纯延髓运动神经元受累与雄激素受体基因中异常的CAG重复序列扩增有关。

Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene.

作者信息

Praline Julien, Guennoc Anne-Marie, Malinge Marie-Claire, de Toffol Bertrand, Corcia Philippe

机构信息

ALSCentre, CHRUde Tours, Tours, France.

出版信息

Amyotroph Lateral Scler. 2008 Feb;9(1):40-2. doi: 10.1080/17482960701553915.

DOI:10.1080/17482960701553915

PMID:17852020

Abstract

Spinal and bulbar muscular atrophy (SBMA) is an X-linked adult motor neuron disorder caused by an abnormal CAG-repeat expansion in the first exon of the androgen receptor gene. This disease associates progressive lower motor neuron affection and endocrine disturbances. Bulbar symptoms appear usually late in the clinical course but clinical heterogeneity is demonstrated. We report the case of a 62-year-old male with a 10-year history of progressive bulbar involvement related to an abnormal CAG-repeat expansion in the androgen receptor gene. This atypical phenotype led us to discuss the role of some genetic or environmental factors in SBMA.

摘要

脊髓延髓肌肉萎缩症（SBMA）是一种X连锁的成人运动神经元疾病，由雄激素受体基因第一外显子中异常的CAG重复扩增引起。这种疾病伴有进行性下运动神经元受累和内分泌紊乱。延髓症状通常在临床病程后期出现，但存在临床异质性。我们报告了一例62岁男性患者，有10年进行性延髓受累病史，与雄激素受体基因中异常的CAG重复扩增有关。这种非典型表型促使我们探讨一些遗传或环境因素在脊髓延髓肌肉萎缩症中的作用。