X连锁隐性遗传脊髓延髓肌萎缩症的临床、病理和基因研究  

The clinical,pathological and molecular genetic studies of X-linked recessive bulbospinal muscular atrophy

作　　者：陈涓涓[1] 胡俊[1] 林凯华[1] 张海鸥[1] 吴军[1] 

机构地区：[1]北京大学深圳医院神经内科,广东深圳518036

出　　处：《中风与神经疾病杂志》2014年第1期14-17,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的研究x连锁隐性遗传脊髓延髓肌萎缩症的临床、病理及基因特点，提高对该病的认识。方法总结6例患者的临床资料，肌肉活检病理结果；雄激素受体基因第1外显子的基因检测结果。结果6例患者均男性，平均发病年龄为42岁。所有患者均以双下肢无力起病，逐渐累及上肢及延髓肌肉；其中2例患者出现感觉障碍，5例患者有内分泌系统损害表现；患者血清肌酸激酶水平2—10倍增高；肌电图呈广泛的神经源性损害，3例患者出现双侧下肢感觉神经传导异常，以感觉神经动作电位波幅下降为主。雄激素受体（androgenreceptorgene．AR）基因的CAG重复序列数分别为39～49次。结论肢体近端及球部肌无力萎缩、感觉障碍及内分泌系统受累是该病的主要临床表现，雄激素受体基因1号外显子的基因检测是重要的诊断依据。Objective In order to improve the clinician＇ s awarenes,we study the clinical manifestation,pathological features and molecular genetic characteristics of X-linked bulbospinal muscular atrophy. Methods The clinical data of six cases were collected and analyzed. The muscle biopsy and the CAG repeats in the first exon of androgenic receptor（AR） gene were conducted. Results All the six patients were male. The average age of onset was 42 years old. All of them be- gan with weakness of lower extremities, followed by the upper limbs and the bulbar muscles. Two cases had sensory abnor- malities ,and 5 cases had endocrinopathy. Patients had 2-10 times higher levels of serum creatine kinase. EMG detected a widespread neuronal damage in all of the cases. Sensory nerve action potential amplitudes were reduced in 3 cases. The CAG repeat number in AR gene was 39-49. Conclusions Weakness and wasting of the bulbar and limb muscles, sensory disturbances ,and endocrinological abnormalities are the major symptoms of Kennedy disease. The early genetic testing of 1 exon in AR gene is important for diagnosis.

关 键 词：X连锁隐性遗传脊髓延髓肌萎缩症 临床 病理 雄激素受体基因 

分 类 号：R744[医药卫生—神经病学与精神病学]