DENTATORUBRAL AND PALLIDOLUYSIAN ATROPHY EXPANSION OF AN UNSTABLE CAG TRINUCLEOTIDE ON CHROMOSOME-12P

被引：685

作者：

NAGAFUCHI, S

YANAGISAWA, H

SATO, K

SHIRAYAMA, T

OHSAKI, E

BUNDO, M

TAKEDA, T

TADOKORO, K

KONDO, I

MURAYAMA, N

TANAKA, Y

KIKUSHIMA, H

UMINO, K

KUROSAWA, H

FURUKAWA, T

NIHEI, K

INOUE, T

SANO, A

KOMURE, O

TAKAHASHI, M

YOSHIZAWA, T

KANAZAWA, I

YAMADA, M

机构：

[1] NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

[2] NIHON UNIV,NUCLE ACID SCI LAB,FUHISAWA 252,JAPAN

[3] EHIME UNIV,SCH MED,DEPT HYG,SHIGENOBU,EHIME 79102,JAPAN

[4] EHIME UNIV,SCH MED,DEPT NEUROPSYCHIAT,SHIGENOBU,EHIME 79102,JAPAN

[5] DOKKYO UNIV,SCH MED,DEPT PEDIAT 2,MIBU,TOCHIGI 32102,JAPAN

[6] NATL CHILDRENS HOSP,TOKYO 154,JAPAN

[7] KOBE UNIV,SCH MED,DEPT NEUROL & PSYCHIAT,KOBE 650,JAPAN

[8] KOCHI UNIV,DEPT NEUROPSYCHIAT,NANKOKU,KOCHI 783,JAPAN

[9] UNIV TSUKUBA,INST CLIN MED,DEPT NEUROL,TSUKUBA,IBARAKI 305,JAPAN

[10] UNIV TOKYO,INST BRAIN RES,TOKYO 113,JAPAN

来源：

NATURE GENETICS | 1994年 / 6卷 / 01期

关键词：

D O I：

10.1038/ng0194-14

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder characterized by combined systemic degeneration of the dentatofugal and pallidofugal pathways. We investigated a candidate gene and found that DRPLA patients had an expanded CAG trinucleotide repeat in a gene on the short arm of chromosome 12. The repeat size varied from 7-23 in normal individuals. In patients one allele was expanded to between 49-75 repeats or occasionally even more. Expansion was usually associated with paternal transmission and only occasionally with maternal transmission. Repeat size showed a close correlation with age of onset of symptoms and disease severity. We conclude that DRPLA is the seventh genetic disorder known to be associated with expansion of an unstable trinucleotide repeat.

引用

页码：14 / 18

页数：5

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