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題名 | Machado-Joseph Disease: Report of a Chinese Family=Machado-Joseph病--病例報告 |
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作 者 | 徐昌鴻; 林健群; 李俊泰; 鄧鐘泉; 宋秉文; | 書刊名 | 醫學研究 |
卷期 | 19:1 1998.07[民87.07] |
頁次 | 頁65-70 |
分類號 | 415.93 |
關鍵詞 | Machado-joseph病; 脊髓小腦失調症; Machado-joseph disease; Spinocerebellar atrophy; |
語文 | 英文(English) |
中文摘要 | Machado-Joseph disease(MJD)病是一種體染色體顯性遺傳的脊髓小腦失調症。此病以前主要是依臨床症狀來診斷,但每個案其臨床表徵差異頗大。即使是同一家族之病人,彼此之臨床表徵亦常有很大之不同,常造成臨床診斷困難。且不易與其他遺傳性脊髓小腦失調症作鑑別診斷。近來因分子生物學技術進步,發現MJD患者其第十四對體染色體上之MJD基因,有CAG核氨酸重複數量增加的現象,提供了專一診斷此症的利器。在此我們報告此一遺傳性脊髓小腦失調症家族中兩例病例,其臨床上出現小腦失調,眼震,面部肌束震顫,突眼,遠端肌肉萎縮等症狀。分析其MJD基因亦顯示有典型CAG核氨酸重複數量增加。依臨床及基因分析確定此家族之診斷為Machado-Joseph disease。 |
英文摘要 | Machado-Joseph disease is an autosomal dominant multisystem motor degeneration, has been described mainly in people of Portuguese descent. It is characterized by cerebellar ataxia, pyramidal signs, and progressive external ophthalmoplegia. The pathogenic gene responsible for the disease, which was recently identified, contains an abnormal CAG expansion in the coding region (14q24. 3-32.1). We report the characteristically clinical and genetic findings in two persons from a family of Chinese descents had a spinocerebellar ataxia of adult onset that extended over two generations. They developed with predominantly cerebellar ataxia with pyradmidal signs, limitation of upward gaze, nystagmus, and distal muscle atrophy. The genetic consultation revealed over expansion of CAG repeat in chromosome 14q. The length of CAG repeat was expanded to 73 and 76 in these two patients, respectively. Clinical and genetic data diagnosed they to have Machado- Joseph disease. |
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