Tools
Tools
Balreira, A, Boczonadi, V, Barca, E, Pyle, A, Bansagi, B, Appleton, M, Graham, C, Hargreaves, IP, Rasic, VM, Lochmueller, H, Griffin, H, Taylor, RW, Naini, A, Chinnery, PF, Hirano, M, Quinzii, CM and Horvath, R (2014) ANO10 mutations cause ataxia and coenzyme Q(10) deficiency. Journal of Neurology, 261 (11). pp. 2192-2198. ISSN 0340-5354
|
Text
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.pdf - Published Version Available under License Creative Commons Attribution. Download (673kB) | Preview |
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | 1103 Clinical Sciences, 1109 Neurosciences |
| Subjects: | R Medicine > RM Therapeutics. Pharmacology |
| Divisions: | Pharmacy & Biomolecular Sciences |
| Publisher: | Springer |
| Related URLs: | |
| Date Deposited: | 22 Sep 2020 10:34 |
| Last Modified: | 04 Sep 2021 06:39 |
| DOI or ID number: | 10.1007/s00415-014-7476-7 |
| URI: | https://researchonline.ljmu.ac.uk/id/eprint/13685 |
 |
View Item |