ArticleNeurology. Genetics2022
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
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Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8citing papers in PubMed
1.3field-weighted citation impact, top 22% of its field
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Spectrum of Hereditary Ataxia in Omani Children.Journal of clinical medicine · 2026Article
- Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.European journal of neurology · 2026Article
- Practice Recommendations for Genetic Testing of Ataxias.Annals of clinical and translational neurology · 2025Review
- Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.BMC neurology · 2025Article
- Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.Annals of clinical and translational neurology · 2025Article
- Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.Cerebellum (London, England) · 2024Article
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.Movement disorders clinical practice · 2023Article
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Authors and funding
17 authors at 1 institution in 1 country.
Raquel Baviera-MuñozNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.ORCID https://orcid.org/0000-0001-9913-4268
Lidón Carretero-VilarroigNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Juan Francisco Vázquez-CostaNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.ORCID https://orcid.org/0000-0002-3043-7938
Carlos Morata-MartínezNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Marina Campins-RomeuNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Nuria MuelasNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.ORCID https://orcid.org/0000-0002-2349-7481
Isabel Sastre-BatallerNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.ORCID https://orcid.org/0000-0002-1549-2293
Irene Martínez-TorresNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Julia Pérez-GarcíaNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Rafael SiveraNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Teresa SevillaNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.ORCID https://orcid.org/0000-0003-4716-2667
Juan J VilchezNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Teresa JaijoNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Carmen EspinósNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.ORCID https://orcid.org/0000-0003-4435-1809
Jose M MillánNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Luis BatallerNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.ORCID https://orcid.org/0000-0002-2471-4492
Elena AllerNeuromuscular Diseases Unit (R.B.-M., J.F.V.-C., C.M.-M., M.C.-R., N.M., I.S.-B., I.M.-T., J.P.-G., R.S., T.S., L.B.), Neurology Department, Hospital Universitari I Politècnic La Fe and Neuromuscular Reference Centre, ERN-EURO-NMD; Neuromuscular and Ataxias Research Group. Instituto de Investigación Sanitaria La Fe (R.B.-M., L.C.-V., J.F.V.-C., N.M., R.S., T.S., J.J.V., L.B.); Rare Diseases Joint Unit (R.B.-M., L.C.-V., J.F.V.-C., N.M., I.S.-B., I.M.-T., T.S., J.J.V., T.J., C.E., J.M.M., L.B., E.A.), CIPF-IIS La Fe; Cell Biology Department (L.C.-V.), University of Valencia; Department of Medicine (J.F.V.-C., N.M., T.S., L.B.), University of Valencia; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (J.F.V.-C., N.M., R.S., T.S., J.J.V., T.J., J.M.M., L.B., E.A.); Department of Medicine (R.S.), University CEU Cardenal Herrera; Department of Genetics (T.J., E.A.), Hospital Universitari I Politècnic La Fe; Cellular (T.J., J.M.M., E.A.), Molecular and Genomics Biomedicine Group, Instituto de Investigación Sanitaria La Fe; and Laboratory of Rare Neurodegenerative Diseases (C.E.), Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
Universitat de València · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: To determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from Eastern Spain. Methods: A total of 130 unrelated patients with CA, negative for common trinucleotide repeat expansions (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, dentatorubral pallidoluysian atrophy [DRPLA], and Friedreich ataxia), were studied with CES. Bioinformatic and genotype-phenotype analyses were performed to assess the pathogenicity of the variants encountered. Copy number variants were analyzed when appropriate. In undiagnosed dominant and sporadic cases, repeat primed PCR was used to screen for the presence of a repeat expansion in the Results: CES identified pathogenic or likely pathogenic variants in 50 families (39%), including 23 novel variants. Overall, there was a high genetic heterogeneity, and the most frequent genetic diagnosis was Discussion: Our study provides insight into the genetic landscape of CA in Eastern Spain. Although CES was an effective approach to capture genetic heterogeneity, most patients remained undiagnosed. SCA36 was found to be a relatively frequent form and, therefore, should be tested prior to CES in familial AD presentations in particular geographical regions.
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