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Anoctamin 10‐Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship
Author(s) -
BogdanovaMihaylova Petya,
Austin Neil,
Alexander Michael D.,
Cassidy Lorraine,
Early Anne,
Murphy Raymond P.,
Murphy Sinéad M.,
Walsh Richard A.
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12396
Subject(s) - cerebellar ataxia , sanger sequencing , spinocerebellar ataxia , ataxia , genetics , genetic heterogeneity , medicine , phenotype , biology , mutation , gene , neuroscience
View Supplementary Video 1 View Supplementary Video 2 The autosomal recessive cerebellar ataxias are a heterogeneous group of neurodegenerative disorders. Mutations in the anoctamin 10 gene ( ANO 10 ) recently have been identified as a cause of autosomal recessive spinocerebellar ataxia type 10. Comprehensive phenotypic data are provided on 3 siblings with homozygous ANO 10 mutations, including detailed ocular and cognitive assessments and bladder involvement not previously described in the literature. Data also are provided on unblinded therapy with coenzyme Q10, previously reported as a possible therapy in ANO 10 ‐related ataxia. A genetic diagnosis in this family was obtained through next‐generation sequencing techniques after over 10 years of expensive sequencing of individual genes using the traditional Sanger approach. Greater commercial availability of gene panels will improve the ability to obtain a genetic diagnosis in the uncommon “non‐Friedreich's” recessive ataxias. Clinical recognition of these recessive ataxic syndromes will also inevitably improve as the full phenotypic spectrum is identified.