脊髓延髓肌萎缩症一家系患者的临床、电生理及分子遗传学特点  

The clinical features of spinal and bulbar muscular atrophy(two case reports and literature review)

作　　者：许辉[1,2] 蒋云[1] 朱小泉[3] 庄立[1] 龚涛[1] 陈海波[1] 

机构地区：[1]卫生部北京医院神经内科,100730 [2]安徽省阜阳市人民医院神经内科,236000 [3]卫生部北京医院老年医学研究所遗传室,100730

出　　处：《中国神经免疫学和神经病学杂志》2011年第2期98-101,共4页Chinese Journal of Neuroimmunology and Neurology

摘　　要：目的通过分析2例脊髓延髓肌萎缩症(SBMA)患者的临床表现并进行相关文献复习,比较全面地认识SBMA的临床特点、发病机制、病理特点及诊断与鉴别诊断要点,提高SBMA诊断率。方法对临床疑似SBMA的兄弟两人的临床和肌电图特点进行分析,并检测其雄激素受体(AR)基因第一外显子三核苷酸(CAG)串联重复情况。结合文献,总结SBMA的临床特点、病理基础和发生机制。结果 2例患者均具有典型SBMA临床表现,AR基因CAG重复数均为49,可诊断为SBMA。结论熟悉SBMA的临床特征,早期进行基因检测,可提高该病的诊断率。Objective By analyzing the clinical manifestations of two patients with spinal and bulbar muscular atrophy（SBMA） and reviewing references,fully recognize SBMA in aspects of clinical features,pathogenesis,pathological features,diagnosis and differentiation,improving diagnostic rate.Methods In the two brothers with suspected SBMA,the clinical and eletrophysiological manifestations were analyzed and the repetition of CAG in the first exon of androgenic receptor（AR） was tested.Combined with reference review,the clinical features,pathology and pathogenesis were summarized.Results The two patients had typical SBMA manifestations.The number of CAG repetition in the first exon of AR was 49 in both of them.SBMA was then diagnosed.Conclusions To improve the diagnostic rate of SBMA,we must be familiar with its clinical features and take gene test on the early stage of the disease.

关 键 词：脊髓延髓肌萎缩症 临床特点 雄激素受体 CAG重复 

分 类 号：R734.1[医药卫生—肿瘤]