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Article

Exome sequencing in undiagnosed inherited and sporadic ataxias.

Brain : a journal of neurology - 1 Feb 2015

Pyle Angela, Smertenko Tania, Bargiela David, Griffin Helen, Duff Jennifer, Appleton Marie, Douroudis Konstantinos, Pfeffer Gerald, Santibanez-Koref Mauro, Eglon Gail, Yu-Wai-Man Patrick, Ramesh Venkateswaran, Horvath Rita, Chinnery Patrick F

Abstract excerpt

Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome sequencing approach in 35 affected individuals, from 22 randomly selected families of white European descent. We defined the likely molecular diagnosis in 14 of 22 families (64%). This revealed...

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Identifiers

PMID: 25497598
DOI: 10.1093/brain/awu348
PMCID: PMC4306819

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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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