1994年1月
UNSTABLE EXPANSION OF CAG REPEAT IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA)
NATURE GENETICS
- 巻
- 6
- 号
- 1
- 開始ページ
- 9
- 終了ページ
- 13
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/ng0194-9
- 出版者・発行元
- NATURE PUBLISHING CO
Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified unstable expansion of a CAG in a gene on chromosome 12 in all the 22 DRPLA patients examined. A good correlation between the size of the CAG repeat expansion and the ages of disease onset is found in this group. Patients with earlier onset tended to have a phenotype of progressive myoclonus epilepsy and larger expansions. We propose that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.
- リンク情報
- ID情報
-
- DOI : 10.1038/ng0194-9
- ISSN : 1061-4036
- PubMed ID : 8136840
- Web of Science ID : WOS:A1994MQ17700006