Abstract：
:Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherited ataxia. In two patients with adult-onset cerebellar ataxia and coenzyme Q10 (CoQ10) deficiency in muscle, whole exome sequencing revealed mutations in ANO10, which encodes anoctamin 10, a member of a family of putative calcium-activated chloride channels, and the causative gene for autosomal recessive spinocerebellar ataxia-10 (SCAR10). Both patients presented with slowly progressive ataxia and dysarthria leading to severe disability in the sixth decade. Epilepsy and learning difficulties were also present in one patient, while retinal degeneration and cataract were present in the other. The detection of mutations in ANO10 in our patients indicate that ANO10 defects cause secondary low CoQ10 and SCAR10 patients may benefit from CoQ10 supplementation.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Balreira A,Boczonadi V,Barca E,Pyle A,Bansagi B,Appleton M,Graham C,Hargreaves IP,Rasic VM,Lochmüller H,Griffin H,Taylor RW,Naini A,Chinnery PF,Hirano M,Quinzii CM,Horvath Rdoi
10.1007/s00415-014-7476-7subject
Has Abstractpub_date
2014-11-01 00:00:00pages
2192-8issue
11eissn
0340-5354issn
1432-1459journal_volume
261pub_type
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