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Article

Progressive ataxia due to a missense mutation in a calcium-channel gene.

American journal of human genetics - 1 Nov 1997

Yue Q, Jen J C, Nelson S F, Baloh R W

Abstract excerpt

We describe a family with severe progressive cerebellar ataxia involving the trunk, the extremities, and speech. The proband, who has prominent atrophy of the cerebellum, shown by magnetic resonance imaging, was confined to a wheelchair at the age of 44 years. Two sons have episodes of vertigo and ataxia that are not responsive to acetazolamide. Quantitative eye-movement testing showed a consistent pattern of...

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Identifiers

PMID: 9345107
DOI: 10.1086/301613
PMCID: PMC1716037

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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