ArticleNeurology2023
Truncating Variants in
Open access · hybridAbstract read
In one paragraph
Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
5.0field-weighted citation impact, top 3% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 50 citations in OpenAlex.
- Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review.Pain and therapy · 2026Review
- Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.Translational neurodegeneration · 2026Article
- Cramps as the initial presentation of CANVAS/RFC1-related disorder.Journal of neuromuscular diseases · 2026Article
- Prevalence of intronic repeat expansions in the RFC1 gene in Polish patients with cerebellar syndrome.Journal of applied genetics · 2026Article
- The Genetic Architecture of Chronic Cough: From Sensory Hypersensitivity to Treatable Trait.Pulmonary therapy · 2026Review
- Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.Neurology. Genetics · 2026Review
- Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping.Arquivos de neuro-psiquiatria · 2025Article
- Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.Annals of neurology · 2025Review
- RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum.Nature communications · 2025Article
- Clinical Reasoning: A 57-Year-Old Man With Chronic Gait Unsteadiness and Diminished Lower Extremity Sensation.Neurology · 2025Article
- Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.Cerebellum (London, England) · 2025Article
- Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study.Journal of neurology · 2025Article
- Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.NPJ Parkinson's disease · 2025Article
- Pseudodominance in RFC1-Spectrum Disorder.Cerebellum (London, England) · 2024Article
- Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome: The First Genetically Confirmed Case in South Korea.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.NAR molecular medicine · 2024Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): a family with five affected sibs from Turkey.BMC neurology · 2024Article
- AAGGG repeat expansions triggerScience advances · 2024Article
- Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.Journal of neurology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 1 institution in 2 countries.
Riccardo RoncoFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Cecilia PeriniFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Riccardo CurròFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Natalia DominikFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Stefano FacchiniFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Alice GennariFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Roberto SimoneFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Skye StuartFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Sara NagyFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Elisa VegezziFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.ORCID 0000-0001-8776-6831
Ilaria QuartesanFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Amar El-SaddigFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Timothy LavinFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Arianna TucciFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Agnieszka SzymuraFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Luiz Eduardo Novis De FariasFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Alexander GaryFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Megan DelfeldFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Priscilla KandikatlaFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Nifang NiuFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Sanjukta TawdeFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Joseph ShawFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
James PolkeFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Mary M ReillyFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Nick W WoodFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Emmanuele CrespanFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.ORCID 0000-0003-0597-6929
Christopher GomezFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.ORCID 0000-0002-7909-207X
Jin Yun Helen ChenFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Jeremy Dan SchmahmannFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
David GosalFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Henry HouldenFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.ORCID 0000-0002-2866-7777
Soma DasFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston.
Andrea CorteseFrom the Department of Neuromuscular Diseases (R.R., R.C., N.D., S.F., Alice Gennari, R.S., S.S., S.N., A.T., A.S., L.E.N.D.F., M.M.R., N.W.W., H.H., A.C.), UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Brain and Behavioral Sciences (R.R., R.C., I.Q., A.C.), University of Pavia, Pavia, Italy; Institute of Molecular Genetics IGM-CNR "Luigi Luca Cavalli-Sforza" (C.P., E.C.), Italy; Department of Neurology (S.N.), University Hospital Basel, University of Basel, Switzerland; IRCCS Mondino Foundation (E.V.), Pavia, Italy; Manchester Centre for Clinical Neurosciences (A.E.-S., T.L., D.G.), Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, United Kingdom; Clinical Pharmacology (A.T.), William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, United Kingdom; Departamento de Distúrbios do Movimento (L.E.N.D.F.), Hospital Das Clínicas Da Universidade Federal Do Paraná, Curitiba, Brazil; University of Chicago Medical Center (Alexander Gary, M.D., P.K., S.D.), The University of Chicago, IL; Department of Human Genetics (N.N., S.T.), The University of Chicago, IL; Neurogenetics (J.S., J.P.), University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, United Kingdom; Department of Neurology (C.G.), The University of Chicago, IL; and Ataxia Center (J.Y.H.C., J.D.S.), Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston. andrea.cortese@ucl.ac.uk.
I.R.C.C.S. Oasi Maria SS · IT
Funding
Medical Research Council MR/S01165X/1Medical Research Council MR/T001712/1Wellcome Trust
Abstract
BACKGROUND AND
objectiveCerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult-onset and slowly progressive sensory neuropathy, cerebellar dysfunction, and vestibular impairment. In most cases, the disease is caused by biallelic (AAGGG)
methodsFifteen individuals diagnosed with CANVAS and carrying only 1 heterozygous (AAGGG)
resultsWe identified 7 patients from 5 unrelated families with clinically defined CANVAS carrying a heterozygous (AAGGG) DISCUSSION: Our report expands the genotype spectrum of RFC1 disease. Full
Indexed as
Bilateral VestibulopathyCerebellar AtaxiaNeurodegenerative DiseasesPeripheral Nervous System DiseasesVestibular DiseasesAdultHumansSyndrome
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