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Article

Two young sisters with spinocerebellar ataxia type 2 showing different clinical progression of disease.

Cerebellum (London, England) - 1 Jun 2009

Yiş Uluç, Dirik Eray, Kurul Semra Hiz, Eken Asli Gündoğdu, Başak A Nazli

Abstract excerpt

Spinocerebellar ataxia type 2 is a neurodegenerative disease caused by a CAG repeat expansion in the ataxin-2 gene. Gain-of-toxic effects caused by expanded polyglutamine tracts are important for the disease pathogenesis and there is an inverse relationship between the number of CAG repeats and the age of onset and clinical severity. Previously, we reported an extended Turkish family with spinocerebellar ataxia...

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PMID: 19023636
DOI: 10.1007/s12311-008-0080-6

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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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