ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

作者：Balreira Andrea; Boczonadi Veronika; Barca Emanuele; Pyle Angela; Bansagi Boglarka; Appleton Marie; Graham Claire; Hargreaves Iain P; Rasic Vedrana Milic; Lochmueller Hanns; Griffin Helen; Taylor Robert W; Naini Ali; Chinnery Patrick F; Hirano Michio; Quinzii Catarina M^*; Horvath Rita

来源：Journal of Neurology, 2014, 261(11): 2192-2198.

DOI：10.1007/s00415-014-7476-7

• Autosomal recessive ataxia
• Mitochondrial
• Coenzyme Q(10) (CoQ(10)) deficiency
• ANO10

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.

• 出版日期2014-11
• 单位河北医科大学