ArticleNeurology. Clinical practice2023
Multisystemic
Open access · greenAbstract read
In one paragraph
Article in Neurology. Clinical practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.8field-weighted citation impact, top 9% 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
19 citing papers in PubMed, 19 citations in OpenAlex.
- Uncovering Neuropathic Pain in CANVAS: Lessons from a Case-Based Literature Review.Pain and therapy · 2026Review
- Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner).Cerebellum (London, England) · 2026Article
- Cramps as the initial presentation of CANVAS/RFC1-related disorder.Journal of neuromuscular diseases · 2026Article
- Distinct small-fiber dysfunction profiles in CMT1A and RFC1 disease: a multimodal study.Journal of neurology · 2026Article
- RFC1 Repeat Expansions in Chronic Idiopathic Axonal Polyneuropathy: Prevalence, Phenotype, and Diagnostic Implications.Journal of the peripheral nervous system : JPNS · 2026Observational
- Corticospinal conduction in RFC1-related disease: a transcranial magnetic stimulation study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Motor, Extrapyramidal, and Cognitive Involvement in RFC1 Disease: A Systematic Review and Meta-Analysis.Neurology. Genetics · 2026Review
- Targeted neurological screening for RFC1-related disease in unexplained chronic cough.Journal of neurology · 2026Article
- Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort.European journal of neurology · 2026Article
- Comprehensive phenotyping of RFC1-related disorder: integrating electrophysiological, brain imaging, and otoneurological data in deep phenotyping.Arquivos de neuro-psiquiatria · 2025Article
- Neuroimaging in Cerebellar Ataxias: A Diagnostic Approach.Cerebellum (London, England) · 2025Review
- Prevalence and Clinical Correlates of Sleep Disorders in RFC1-Spectrum Disorders: A Cross-Sectional Study.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- RFC1 regulates the expansion of neural progenitors in the developing zebrafish cerebellum.Nature communications · 2025Article
- Polysomnography phenotype of CANVAS with parkinsonism.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2025Article
- Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.Cerebellum (London, England) · 2025Article
- Pseudodominance in RFC1-Spectrum Disorder.Cerebellum (London, England) · 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
- Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.Cerebellum (London, England) · 2024Article
- Health-Related Quality of Life in Patients with Inherited Ataxia in Ireland.Cerebellum (London, England) · 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
24 authors at 1 institution in 2 countries.
Maria João MalaquiasDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-5704-9273
Luis BrazDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-3312-4283
Cláudia Santos SilvaDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0003-4495-6314
Joana DamásioDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-6539-6398
André JorgeDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-6209-2356
João M LemosDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-9128-7064
Catarina F CamposDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0001-6194-9787
Daniela GarcezDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-0684-7347
Miguel Oliveira SantosDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-8290-0410
Ana G VelonDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0001-9273-6688
André CaetanoDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-9040-5516
Margarida CalejoDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0001-8790-1263
Preza FernandesDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.
Ângela RegoDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-1905-3271
Sandra CastroDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-1873-0947
Ana P SousaDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-8876-2063
Marcio Neves CardosoDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0009-0001-2990-1641
Marco FernandesDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-4919-1974
Miguel M PintoDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0001-5545-1288
Ricardo TaipaDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0002-9260-0227
Ana M LopesDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0001-5094-258X
Jorge OliveiraDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0000-0003-3924-6385
Marina MagalhãesDepartment of Neurology (MJM, LB), Centro Hospitalar Universitário de São João, Porto; Department of Neurology (CSS, CFC, MOS), Centro Hospitalar Universitário Lisboa Norte; Centro de Estudos Egas Moniz (CSS), Faculdade de Medicina da Universidade de Lisboa; Department of Neurology (JD, MCM), Centro Hospitalar Universitário do Porto; Department of Neurology (AJ, JML), Centro Hospitalar Universitário de Coimbra; Department of Neurology (DG), Instituto Português de Oncologia de Lisboa Francisco Gentil; Department of Neurology (AGV), Centro Hospitalar De Trás-Os-Montes e Alto Douro, Vila Real; Department of Neurology (AC, MF), Centro Hospitalar de Lisboa Ocidental; Department of Neurology (MC), Unidade Local de Saúde de Matosinhos, Porto; Department of Cardiology (PF), Centro Hospitalar Universitário Lisboa Central; Department of Otolaryngology, Head and Neck Surgery (ÂR, SC); Department of Neurophysiology (APS, MNC); Neuropathology Unit (MMP, RT), Centro Hospitalar Universitário do Porto; Center for Predictive and Preventive Genetics (CGPP) (AML, JO), Institute for Molecular and Cell Biology (IBMC), Instituto de Investigacão e Inovação em Saúde (i3S), Universidade do Porto; and Department of Neurology (MCM), Centro Hospitalar do Tâmega e Sousa, Penafiel, Portugal.ORCID https://orcid.org/0009-0003-5480-2084
for RFC1 Repeat Expansion National Study Group
Centro Hospitalar Lisboa Norte · PT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: The Methods: We retrospectively enrolled 67 RFC1-positive patients from multiple neurologic centers in Portugal. All patients underwent full neurologic and vestibular evaluation, as well as neuroimaging and neurophysiologic studies. For SNF and autonomic testing (n = 15), we performed skin biopsies, quantitative sensory testing, sudoscan, sympathetic skin response, heart rate deep breathing, and tilt test. Results: Multisystemic features beyond CANVAS were present in 82% of the patients, mainly chronic cough (66%) and dysautonomia (43%). Other features included motor neuron (MN) affection and motor neuropathy (18%), hyperkinetic movement disorders (16%), sleep apnea (6%), REM and non-REM sleep disorders (5%), and cranial neuropathy (5%). Ten patients reported an inverse association between cough and ataxia severity. A very severe epidermal denervation was found in skin biopsies of all patients. Autonomic dysfunction comprised cardiovascular (67%), cardiovagal (54%), and/or sudomotor (50%) systems. Discussion: The presence of MN involvement, motor neuropathy, small fiber neuropathy, or extrapyramidal signs should not preclude
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