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Article

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.

Brain : a journal of neurology - 1 Oct 2005

Pulst Stefan-M, Santos Nieves, Wang Dai, Yang Huiying, Huynh Duong, Velazquez Luis, Figueroa K Pattie

Abstract excerpt

Nine neurodegenerative diseases, collectively referred to as polyglutamine (polyQ) diseases, are caused by expansion of a coding CAG DNA trinucleotide repeat. PolyQ diseases show a strong inverse correlation between CAG repeat length and age of disease onset (AO). Despite this, individuals with identical repeat expansion alleles can have highly variable disease onset indicating that other factors also influence...

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PMID: 16000334
DOI: 10.1093/brain/awh586

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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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