摘要
目的探讨肯尼迪病(Kennedy disease)一家系的临床、病理和分子遗传学特点。方法分析一个经基因确诊的Kennedy病家系患者的临床症状体征、肌电图、神经肌肉活检和雄激素受体基因第1外显子的分子生物学检测结果。结果该家系有4例男性患者,均中年起病,缓慢进展。表现为肢体近端和延髓受累为主的下运动神经元损害,血清肌酸激酶轻度升高。肌电图呈广泛神经源性损害,神经活检神经源性肌萎缩。雄激素受体(androgen receptor gene,AR)基因的CAG重复序列数分别为50、49、50、54次。结论肯尼迪病的临床、电生理及病理特征有其独特特点,确诊有赖于雄激素受体基因编码区CAG重复数的检测。
Objective To characterize the clinical, pathological and molecular genetic manifestations of Kennedy' S disease (KD) in a KD family. Methods The data from a genetic-test confirmed KD family was analyzed, including clinical features, the results of electromyography, nerve-muscle biopsy and the CAG repeats in the first exon of androgenic receptor (AR) gene. Results Four patients were middle-age onset and had slow clinical course. Patients were mainly presented with the lower motor neuron damage in the proximal limb and bulbar. All patients had significantly high levels of serum creatine kinase, widespread neuronal damage in EMG and loss of large myelinated fiber in nerve-muscle biopsy. The CAG repeat number in AR gene was 50, 49, 50 and 54 for these patients. Conclusions KD has unique clinical, neurophysiological and neuropathological characteristics and its definite diagnosis should be made by genetic test.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2014年第5期284-287,共4页
Chinese Journal of Nervous and Mental Diseases
基金
广州市中医药
中西医结合科研课题(编号:2009A25)
广东省中医药局科研立项(编号:A2010020)
广州市卫生局一般引导项目(编号:20131A011047)
广东省医学科研基金立项(编号:A2013506)
关键词
肌萎缩
雄激素受体
基因检测
Muscular atrophy Androgen receptor Gene analys