摘要
目的研究Kennedy病的临床表现和基因突变的特点。方法对5例Kennedy病患者(来自2个家系和1例散发患者)的临床资料进行回顾性分析。结果 5例患者均为男性,平均发病年龄48.2岁。均缓慢起病,表现全身肌无力、肌萎缩、肌肉跳动,进行性加重;出现性功能障碍4例,轻度乳腺发育1例。血清肌酶轻度升高2例,雄激素轻度升高1例。5例患者肌电图均示神经源性损害。3例患者的雄激素受体(AR)基因均有突变,其AR基因第1外显子CAG重复数分别为48次、43次和44次。结论 Kennedy病的临床特点为中年男性出现进行性延髓和脊髓性肌无力、肌萎缩,伴有不完全性雄激素不敏感综合征。其AR基因第1外显子CAG序列重复数显著增多为基因突变的特点。
Objective To investigate the features of clinical manifestation and gene mutation in Kennedy disease. Methods The clinical data of 5 patients with Kennedy disease （ came from 2 families and 1 sporadic case） were analyzed retrospectively. Results Five patients were all male. The average onset of the disease was 48.2 years old. All the patients showed slowly onset, presenting progressively weakness, wasting and fasciculations of the whole body; and sexual dysfunction was in 4 cases, mild gynecomastia in 1 case. Serum muscle enzymes levels were elevated mildly in 2 patients and serum testosterone levels were also elevated mildly in 1 patient. Electromyogram was showed neurogenic abnormalities in 5 patients. The mutation in androgen receptor （AR） gene was detected in all the 3 patients, and the CAG repeat numbers in exon 1 of AR gene were 48, 43 and 44 respectively. Conclusions The ehnical featrues of Kennedy disease are progressive weakness and atrophy in bulbar and spinal muscles in middle-aged men, occasionally demonstrating incomplete androgen insensitivity syndrome. Kennedy disease is due to expansion of CAG repeat numbers in exon 1 of AR gene.
出处
《临床神经病学杂志》
CAS
北大核心
2014年第1期1-4,共4页
Journal of Clinical Neurology
基金
山东省自然科学基金(ZR2013HQ016
Y2008C161)
山东省科技攻关资助项目(2010GSF10244)
