Machado—Joseph病临床、神经电生理和分子生物学的研究

目的：对Machado-Joseph病（MJD）的临床、神经电生理和分子生物学等方面进行研究，方法：对一MJD家系44名成员家访、体检、采静脉血作分子生物学分析，住院病例进行脑脊液及神经电生理检查。结果：本家系中10个发病，符合常染色体显性遗传模式，发病年龄8－38岁。临床特点为进行性加重的脊髓小脑性共济失调，可见舌与面肌束颤搐，眼球突出。神经电生理检查示慢性失神经改变。CT、MRI示小脑、脑小脑性共济失调。可见舌与面肌束,发球突出，神经电生理检查示慢性失神经改变。CT、MRI示小脑、脑干、脊髓轻度萎缩。致病基因位于第14对染色体长臂14S280与D14S81之间，图距约3．0cm,(CAG)n重复序列为72－84。结论JMJD是一种常染色体显性遗传的神经系统变性疾病，表现为进行性加重的脊髓小脑共流失调，脑脊液，神经电生理影像学无特异改变，MJD基因位于14号染色体长臂上，其CAG重复扩展突变次数与MDJ发病年龄相关。

Study on the clinic,neuro electrophysiology and molecular biology of Machado Joseph disease

Objective To study the clinic, neuro electrophysiology and molecular biology of Machado Joseph disease (MJD).Methods Family visiting, physical examination and the blood samples were analysed on molecular biology in 44 members of a family with MJD.The cases of inpatients were examined on cerebrospinal fluid and neuro electrophysiology.Results 10 patients of the family attacked,which were consisted with autosomal dominant inheritance type. Age of the onset was 8~38 years old. The clinical characteristic was progressive severe spinocerebellar of ataxia,faciolingual myokymia,bulging eyes.Change of denervated muscle was revealed by neuro etectrophysiological examination. Light atrophy was observed in cerebellar,brain stem, spinal cord.The genetic defect of MJD was located the long arm of chromosome 14 between D 14 S 280 and D 14 S 81 , their distance was 3.0 cm.All tested patients had their CAG repeated expansion from 72 to 84 in the MJD gene.Conclusion MJD is a neuro degenerative disorder of autosomal dominant inheritance. The disease was clinically characterized by progressive severe spinocerebellar ataxia, no obvious changes of cerebrospinal fluid,neuro electrophysiology, CT and MRI.The genetic defect of MJD was located the long arm of chromosome 14.The number of CAG repeated expansion mutation was associated with the age of the onset.