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Article

Do CTG expansions at the SCA8 locus cause ataxia?

Annals of neurology - 1 Jul 2003

Schöls Ludger, Bauer Ingrid, Zühlke Christine, Schulte Thorsten, Kölmel Christina, Bürk Katrin, Topka Helge, Bauer Peter, Przuntek Horst, Riess Olaf

Abstract excerpt

To evaluate the significance of expanded CTG repeats at the SCA8 locus, we analyzed the allele distribution in 1,262 German ataxia patients. We found intermediate and expanded CTG repeats with similar frequencies in ataxia patients with and without established genetic diseases. One family linked to the SCA8 locus showed incomplete penetrance and an association of smaller CTG repeats with more severe disease. Our...

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PMID: 12838526
DOI: 10.1002/ana.10608

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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