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Article

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Journal of neurology - 1 Nov 2014

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 25182700
DOI: 10.1007/s00415-014-7476-7
PMCID: PMC4221650

Genes

ANO10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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