Grunseich Christopher, Fischbeck Kenneth H
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892, USA.
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, 35 Convent Drive, Bethesda, MD 20892, USA.
Neurol Clin. 2015 Nov;33(4):847-54. doi: 10.1016/j.ncl.2015.07.002. Epub 2015 Sep 8.
Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia. Diagnosis is often delayed because of decreased awareness of the disease, although genetic testing allows for direct diagnosis. Therapeutic strategies to block the toxicity of the mutant androgen receptor have been unsuccessful thus far, and evaluation of additional candidate therapies is underway.
脊髓延髓肌肉萎缩症，即肯尼迪病，是一种由雄激素受体基因中的三核苷酸（CAG）重复扩增引起的缓慢进展性X连锁神经肌肉疾病。受影响的男性通常在40多岁时出现肌无力，以及雄激素不敏感的表现，如生育能力下降和乳腺增生。由于对该疾病的认识不足，诊断往往会延迟，不过基因检测可实现直接诊断。迄今为止，阻断突变雄激素受体毒性的治疗策略尚未成功，目前正在评估其他候选疗法。
