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Article

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Archives of neurology - 1 Feb 2004

Oda Masaya, Maruyama Hirofumi, Komure Osamu, Morino Hiroyuki, Terasawa Hideo, Izumi Yuishin, Imamura Tohru, Yasuda Minoru, Ichikawa Keiji, Ogawa Masafumi, Matsumoto Masayasu, Kawakami Hideshi

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant cerebellar ataxia caused by expansion of CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. Because the number of triplets in patients with SCA17 in previous studies ranged from 43 to 63, the normal number of trinucleotide units has been considered to be 42 or less. However, some healthy subjects in SCA17 pedigrees...

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Identifiers

PMID: 14967767
DOI: 10.1001/archneur.61.2.209

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TBP

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