期刊
JOURNAL OF NEUROLOGY
卷 261, 期 11, 页码 2192-2198出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-014-7476-7
关键词
Autosomal recessive ataxia; Mitochondrial; Coenzyme Q(10) (CoQ(10)) deficiency; ANO10
资金
- Medical Research Council (UK) [G1000848]
- European Research Council [309548]
- UK Parkinson's Disease Society
- UK NIHR Biomedical Research Centre for Ageing and Age-related disease award
- Wellcome Trust Centre for Mitochondrial Research [096919Z/11/Z]
- UK NHS Highly Specialized Rare Mitochondrial Disorders of Adults and Children Service
- NIHR CSO Healthcare Scientist research fellowship
- Ministry of Science and Technology, Republic of Serbia [17 3016, 17 508]
- European Union [305444, 305121]
- Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) [K23HD065871]
- Muscular Dystrophy Association (MDA) grant
- NIH [R01HD057543, R01HD056103, U54 NS078059]
- MDA grant
- Marriott Mitochondrial Disorder Clinical Research Fund (MMDCRF)
- MRC [MR/K000608/1, G1000848] Funding Source: UKRI
- Medical Research Council [G1000848, MR/K000608/1] Funding Source: researchfish
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 Q(10) (CoQ(10)) 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 CoQ(10) and SCAR10 patients may benefit from CoQ(10) supplementation.
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