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Article

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

JAMA neurology - 1 Oct 2014

Fogel Brent L, Lee Hane, Deignan Joshua L, Strom Samuel P, Kantarci Sibel, Wang Xizhe, Quintero-Rivera Fabiola, Vilain Eric, Grody Wayne W, Perlman Susan, Geschwind Daniel H, Nelson Stanley F

Abstract excerpt

IMPORTANCE: Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions. Numerous genetic disorders have been associated with chronic progressive ataxia and this consequently presents a diagnostic challenge for the clinician regarding how to approach and prioritize genetic testing in patients with such clinically heterogeneous...

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Identifiers

PMID: 25133958
DOI: 10.1001/jamaneurol.2014.1944
PMCID: PMC4324730

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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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