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Article

Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.

JAMA neurology - 1 Jul 2014

Bettencourt Conceição, Ryten Mina, Forabosco Paola, Schorge Stephanie, Hersheson Joshua, Hardy John, Houlden Henry

Abstract excerpt

IMPORTANCE: The core clinical and neuropathological feature of the autosomal dominant spinocerebellar ataxias (SCAs) is cerebellar degeneration. Mutations in the known genes explain only 50% to 60% of SCA cases. To date, no effective treatments exist, and the knowledge of drug-treatable molecular pathways is limited. The examination of overlapping mechanisms and the interpretation of how ataxia genes interact...

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Identifiers

PMID: 24862029
DOI: 10.1001/jamaneurol.2014.756
PMCID: PMC4469030

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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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