Onodera O, Idezuka J, Igarashi S, Takiyama Y, Endo K, Takano H, Oyake M, Tanaka H, Inuzuka T, Hayashi T, Yuasa T, Ito J, Miyatake T, Tsuji S
Department of Neurology, Brain Research Institute, Niigata University, Japan.
Ann Neurol. 1998 Mar;43(3):288-96. doi: 10.1002/ana.410430305.
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia associated to varying degrees with pyramidal signs, extrapyramidal signs, or peripheral amyotrophy. It is caused by unstable expansion of the CAG repeat in the MJD1 gene on chromosome 14q32.1. To determine how the neurodegenerative process in the central nervous system of patients with MJD correlates with the size of expanded CAG repeats in the MJD1 gene and other factors, we performed detailed quantitative analyses of findings of magnetic resonance imaging of the central nervous system of 21 patients with MJD of various ages and with various sizes of expanded CAG repeats. We found that atrophy of the brainstem and cerebellar vermis in MJD patients is closely correlated not only with the size of expanded CAG repeat in the MJD1 gene but also with patient age, which suggests that the neurodegenerative process in MJD is regulated by the size of expanded CAG repeats as well as by the patient age.
马查多-约瑟夫病（MJD）是一种常染色体显性神经退行性疾病，其特征为小脑共济失调，并伴有不同程度的锥体束征、锥体外系征或周围性肌萎缩。它是由14号染色体q32.1区域MJD1基因中CAG重复序列的不稳定扩增引起的。为了确定MJD患者中枢神经系统的神经退行性过程如何与MJD1基因中扩增的CAG重复序列大小及其他因素相关，我们对21例不同年龄、CAG重复序列扩增大小各异的MJD患者的中枢神经系统磁共振成像结果进行了详细的定量分析。我们发现，MJD患者的脑干和小脑蚓部萎缩不仅与MJD1基因中扩增的CAG重复序列大小密切相关，还与患者年龄相关，这表明MJD中的神经退行性过程受扩增的CAG重复序列大小以及患者年龄的调节。
