A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy

被引：18

作者：

Echaniz-Laguna, A

Rousso, E

Anheim, M

Cossée, M

Tranchant, C

机构：

[1] Hospices Civils Strasbourg, Dept Neurol, F-67091 Strasbourg, France

[2] CHRU Strasbourg, Fac Med, Serv Diagnost Genet, Strasbourg, France

[3] CHRU Strasbourg, INSERM, U692, Strasbourg, France

来源：

NEUROLOGY | 2005年 / 64卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000158617.41819.F3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, lateonset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset ( mean age at onset 13 years [ 8 to 15 years]), and rapid progression leading to compromised ambulation in the mid-20s.

引用

页码：1458 / 1460

页数：3

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