Machado—Joseph病是少见的常染色体体遗传为主的中枢和周围神经系统变性,多见于亚速尔地区的葡萄牙人和日本人。主要表现为小脑性共济失调。一般分四型,其中Ⅳ型表现为震颤麻痹和周围神经病,较少见。已有报告证实Ⅰ、Ⅱ、Ⅲ型病人在14号常染色体长臂三区二带第一亚带(14q32.1)的MJD1基因有三核苷酸CAG重复次数增加。作者在2个MJDⅣ型病人中也证实有MJD基因的缺陷。 Machado-Joseph disease is a rare autosomal genetic predominance in the central and peripheral nervous system degeneration, more common in the Azores region of Portugal and Japan. Mainly for cerebellar ataxia. Generally divided into four types, of which type Ⅳ showed paralysis and peripheral neuropathy, less common. It has been reported that the number of trinucleotide CAG repeats of MJD1 gene in type I, II and III patients in the first subband (14q32.1) of the third arm of the autosomal dominant long arm of the 14th was increased. The authors also confirmed the presence of a MJD gene defect in two MJD type IV patients.