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Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects.

作者信息

Jöbsis G J, Louwerse E S, de Visser M, Wolterman R A, Bolhuis P A, Busch H F, Brüggenwirth H T, Baas F, Wiersinga W M, Koelman J H

机构信息

Department of Neurology, Graduate School of Neurosciences Amsterdam, Netherlands.

出版信息

J Neurol Sci. 1995 May;129 Suppl:56-7. doi: 10.1016/0022-510x(95)00064-9.

DOI:10.1016/0022-510x(95)00064-9
PMID:7595622
Abstract

Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide repeat.

摘要

相似文献

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Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects.
J Neurol Sci. 1995 May;129 Suppl:56-7. doi: 10.1016/0022-510x(95)00064-9.
2
Kennedy disease: insights and questions.
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3
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.雄激素受体基因（CAG）n重复序列分析在肯尼迪病与其他运动神经元疾病鉴别诊断中的应用
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Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene.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。
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Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion.脊髓延髓肌肉萎缩症：由三核苷酸重复扩增导致的雄激素受体功能障碍。
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