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ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Lookup NU author(s): Dr Veronika Boczonadi, Dr Angela Pyle, Dr Boglarka Bansagi, Marie Appleton, Professor Hanns Lochmuller, Dr Helen Griffin, Professor Robert Taylor, Professor Patrick Chinnery, Professor Rita Horvath

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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 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.


Publication metadata

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

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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