SEVERITY OF X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY CORRELATES WITH SIZE OF THE TANDEM CAG REPEAT IN ANDROGEN RECEPTOR GENE

被引：167

作者：

DOYU, M

SOBUE, G

MUKAI, E

KACHI, T

YASUDA, T

MITSUMA, T

TAKAHASHI, A

机构：

[1] AICHI MED UNIV,DEPT INTERNAL MED 4,DIV NEUROL,NAGAKUTE,AICHI 48011,JAPAN

[2] NAGOYA UNIV,SCH MED,DEPT NEUROL,NAGOYA,AICHI 466,JAPAN

[3] NATL NAGOYA HOSP,DEPT NEUROL,NAGOYA,JAPAN

[4] NAGOYA DAINI RED CROSS HOSP,DEPT NEUROL,NAGOYA,JAPAN

[5] NATL CHUBU HOSP,DEPT NEUROL,OBU,JAPAN

来源：

ANNALS OF NEUROLOGY | 1992年 / 32卷 / 05期

关键词：

D O I：

10.1002/ana.410320517

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The genetic mutation of X-linked recessive bulbospinal neuronopathy is amplification of a polymorphic tandem CAG repeat in the androgen receptor gene. We studied this CAG repeat in 26 Japanese patients from 21 families with X-linked recessive bulbospinal neuronopathy. The number of CAG repeats was significantly correlated with the age at onset of limb muscular weakness (r = -0.596, p < 0.001) and age-adjusted scored disability (r = 0.446, p < 0.03). The length of the CAG repeat therefore seems to be a determinant factor of clinical severity.

引用

页码：707 / 710

页数：4

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