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Spinocerebellar Ataxia Type 17
Latest Member of Polyglutamine Disease Group Highlights Unanswered Questions
Arch Neurol. 2004;61:183-184.
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Expansion of CAG repeat units coding for polyglutamine stretches has been identified in at least 9 hereditary neurodegenerative diseases, including spinal and bulbar muscular atrophy; Huntington disease; spinocerebellar ataxia (SCA) types 1, 2, 6, 7, and 17; Machado-Joseph disease (also called SCA3); and dentatorubral-pallidoluysian atrophy. Among these, SCA17, which is caused by expansion of a CAG/CAA repeat coding for a polyglutamine stretch of the TATA-binding protein (TBP) gene, is the latest polyglutamine disease.
HETEROGENEITY OF CLINICAL PRESENTATIONS OF SCA17
Expansion of the CAG repeat of the TBP gene was first described by Koide et al1 in a 14-year-old Japanese patient with a de novo partial duplication of the CAG/CAA repeat in the TBP gene. The patient had an expanded CAG/CAA repeat gene coding for 63 glutamines, exceeding the range of CAG/CAA repeats in healthy individuals (25-42 repeat units). The initial symptoms at age 6 years were ataxic gait and intellectual deterioration. The patient showed . . . [Full Text of this Article]
UNANSWERED QUESTIONS ON POLYGLUTAMINE DISEASES
Shoji Tsuji, MD, PhD
Department of Neurology
University of Tokyo Graduate School of Medicine
Hongo 7-3-1, Bunkyo-ku
Tokyo 113-8655
Japan
(e-mail: tsuji@m.u-tokyo.ac.jp)
RELATED ARTICLE
Possible Reduced Penetrance of Expansion of 44 to 47 CAG/CAA Repeats in the TATA-Binding Protein Gene in Spinocerebellar Ataxia Type 17
Masaya Oda, Hirofumi Maruyama, Osamu Komure, Hiroyuki Morino, Hideo Terasawa, Yuishin Izumi, Tohru Imamura, Minoru Yasuda, Keiji Ichikawa, Masafumi Ogawa, Masayasu Matsumoto, and Hideshi Kawakami
Arch Neurol. 2004;61(2):209-212.
ABSTRACT
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