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Lookup NU author(s): Dr Veronika Boczonadi, Dr Angela Pyle, Dr Boglarka Bansagi, Marie Appleton, Professor Hanns Lochmuller, Dr Helen GriffinORCiD, Professor Robert Taylor, Professor Patrick Chinnery, Professor Rita HorvathORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
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.
Author(s): Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmuller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2014
Volume: 261
Issue: 11
Pages: 2192-2198
Print publication date: 01/11/2014
Online publication date: 03/09/2014
Acceptance date: 19/08/2014
Date deposited: 03/07/2015
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer
URL: http://dx.doi.org/10.1007/s00415-014-7476-7
DOI: 10.1007/s00415-014-7476-7
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