UNSTABLE EXPANSION OF CAG REPEAT IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA)

被引：1015

作者：

KOIDE, R

IKEUCHI, T

ONODERA, O

TANAKA, H

IGARASHI, S

ENDO, K

TAKAHASHI, H

KONDO, R

ISHIKAWA, A

HAYASHI, T

SAITO, M

TOMODA, A

MIIKE, T

NAITO, H

IKUTA, F

TSUJI, S

机构：

[1] NIIGATA UNIV,BRAIN RES INST,DEPT NEUROL,1-757 ASAHIMACHI,NIIGATA 951,JAPAN

[2] NIIGATA UNIV,BRAIN RES INST,DEPT PATHOL,NIIGATA 951,JAPAN

[3] SHIRONE KENSEI HOSP,DEPT NEUROL,SHIRONE 95012,JAPAN

[4] NISHI OJIYA HOSP,NATL SANAT,DEPT NEUROL,OJIYA 947,JAPAN

[5] KUMAMOTO UNIV,SCH MED,DEPT CHILD DEV,KUMAMOTO 860,JAPAN

[6] MATSUHAMA HOSP,NIIGATA 95031,JAPAN

来源：

NATURE GENETICS | 1994年 / 6卷 / 01期

关键词：

D O I：

10.1038/ng0194-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：9 / 13

页数：5

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