一个患有马查多-约瑟夫病的家族，此前被诊断为齿状核红核苍白球路易体萎缩症。

A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy.

作者信息

Sakai T, Antoku Y, Kawakami H, Maruyama H, Nakamura S, Tanaka K

机构信息

Department of Neurology, National Chikugo Hospital, Fukuoka, Japan.

出版信息

Neurology. 1996 Apr;46(4):1154-6. doi: 10.1212/wnl.46.4.1154.

DOI:10.1212/wnl.46.4.1154

PMID:8780110

Abstract

We report a family with Machado-Joseph disease (MJD) that was previously diagnosed with dentatorubral-pallidoluysian atrophy (DRPLA), on the basis of the neuropathologic findings. Because the clinical and pathologic reevaluation strongly suggested a diagnosis of MJD, we conducted a genetic study in the family. Two patients, aged 38 and 40, revealed CAG repeat lengths of the MJD1 gene of 80, 28 and 75, 14, confirming a final diagnosis of MJD.

摘要

我们报告了一个患有马查多-约瑟夫病（MJD）的家族，该家族之前根据神经病理学发现被诊断为齿状核红核苍白球路易体萎缩症（DRPLA）。由于临床和病理重新评估强烈提示为MJD诊断，我们对该家族进行了基因研究。两名患者，年龄分别为38岁和40岁，其MJD1基因的CAG重复长度分别为80、28和75、14，最终确诊为MJD。