ArticleNeurology. Genetics2023
Frequency of GAA-
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 3 pooled it
5.1field-weighted citation impact, top 4% 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
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2026Pooled it
- Spinocerebellar ataxia 27B (SCA27B)-a systematic review and a case report of a Polish family.Journal of applied genetics · 2025Pooled it
- Epidemiology of Autosomal Dominant Spinocerebellar Ataxias in Latin America: A Systematic Review and Meta-Analysis.Cerebellum (London, England) · 2025Pooled it
- GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.Clinical genetics · 2026Article
- Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Cerebellum (London, England) · 2026Article
- SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations.Journal of neurology · 2026Article
- Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.Cerebellum (London, England) · 2026Article
- GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.Journal of neurology · 2025Article
- The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA).Cerebellum (London, England) · 2025Review
- Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.European journal of neurology · 2025Article
- FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium.Annals of clinical and translational neurology · 2025Article
- The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.Genome research · 2025Review
- High Prevalence of the Intronic GAA-Neurology. Genetics · 2025Article
- Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.European journal of human genetics : EJHG · 2025Article
- Recent Advances in the Genetics of Ataxias: An Update on Novel Autosomal Dominant Repeat Expansions.Current neurology and neuroscience reports · 2025Review
- TheBrain communications · 2025Article
- Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).Annals of neurology · 2024Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.NAR molecular medicine · 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
20 authors at 1 institution in 1 country.
Luiz Eduardo NovisFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.ORCID https://orcid.org/0000-0003-1479-2953
Rodrigo S FrezattiFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
David PellerinFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Pedro J TomaselliFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.ORCID https://orcid.org/0000-0002-1485-3771
Shahryar AlaviFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Marcus Vinícius Della ColetaFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Mariana SpitzFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Marie-Josée DicaireFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Pablo IruzubietaFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
José Luiz PedrosoFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.ORCID https://orcid.org/0000-0002-1672-8894
Orlando BarsottiniFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.ORCID https://orcid.org/0000-0002-0107-0831
Andrea CorteseFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Matt C DanziFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Marcondes C FrançaFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Bernard BraisFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.ORCID https://orcid.org/0000-0003-1394-3561
Stephan ZuchnerFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Henry HouldenFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.ORCID https://orcid.org/0000-0002-2866-7777
Salmo RaskinFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Wilson MarquesFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.
Helio A TeiveFrom the Pós-graduação Em Medicina Interna e Ciências da Saúde (L.E.N., H.A.T.), Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil; Department of Neuromuscular Diseases (L.E.N., D.P., S.A., P.I., A.C., H.H.), UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurology (R.S.F., P.J.T., W.M.), School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil; Departments of Neurology and Neurosurgery (D.P., M.-J.D., B.B.), Montreal Neurological Hospital and Institute, McGill University, Canada; Departamento de Neurologia (M.V.D.C.), Universidade do Estado do Amazonas, Manaus; Departamento de Especialidades Médicas (M.S.), Serviço de Neurologia, Universidade Estadual do Rio de Janeiro, Brazil; Department of Neurology (P.I.), Donostia University Hospital; Neuroscience Area (P.I.), Biodonostia Health Research Institute, San Sebastian; Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED) (P.I.), Spain; Department of Neurology (J.L.P., O.B.), Ataxia Unit, Universidade Federal de São Paulo, SP, Brazil; Department of Brain and Behavioral Sciences (A.C.), University of Pavia, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine; Department of Neurology (M.C.F.), School of Medical Sciences-University of Campinas (UNICAMP), São Paulo, Brazil; Department of Human Genetics (B.B.), McGill University, Montreal, Canada; and Laboratório Genetika (S.R.), Curitiba, PR, Brazil.ORCID https://orcid.org/0000-0003-2305-1073
National Hospital for Neurology and Neurosurgery · GB
Funding
Medical Research Council MR/S005021/1
Abstract
Objectives: Intronic Methods: We recruited 93 index patients with genetically unsolved adult-onset ataxia despite extensive genetic investigation and genotyped the Results: Of the 93 index patients, 8 (9%) carried an Discussion: Our results suggest that GAA-
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What OpenQuestion holds
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Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.