背景和目的：对日本4个多系统萎缩（multiple system atrophy，MSA）家系共8例患者的临床和影像学特征进行分析，以揭示MSA具有遗传易患性以及可能存在常染色体隐性遗传模式。方法：对这4个家系进行临床和基因学研究。结果：这4个家系...背景和目的：对日本4个多系统萎缩（multiple system atrophy，MSA）家系共8例患者的临床和影像学特征进行分析，以揭示MSA具有遗传易患性以及可能存在常染色体隐性遗传模式。方法：对这4个家系进行临床和基因学研究。结果：这4个家系中均有2例患者，发病年龄58—72岁，其中1个家系存在近亲婚配。8例患者中1例确诊为MSA，5例为“很可能的”MSA，其余2例为可能的MSA。帕金森型（MSA—P）5例，小脑萎缩型（MSA-C）1例，展开更多
This paper reports a familial amyloid polyneuropathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset w...This paper reports a familial amyloid polyneuropathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset was about 3 to 5 decades. The initial symptoms were autonomic nerve symptoms, such as impotence, dyspepsia and diarrhoea, associated with the sensory loss of lower extremities. As the disease progressed, the upper extremities and motor ability were also involved. The duration of disease course was about 8-10 years, most patients died of infection and cachexia. Sural biopsy in 3 patients had showed positive Congo red staining. From the clinical view, this FAP family is similar to FAP I found in Japan. The true classification, however, should be confirmed by further genetic analysis.展开更多
文摘背景和目的：对日本4个多系统萎缩（multiple system atrophy，MSA）家系共8例患者的临床和影像学特征进行分析，以揭示MSA具有遗传易患性以及可能存在常染色体隐性遗传模式。方法：对这4个家系进行临床和基因学研究。结果：这4个家系中均有2例患者，发病年龄58—72岁，其中1个家系存在近亲婚配。8例患者中1例确诊为MSA，5例为“很可能的”MSA，其余2例为可能的MSA。帕金森型（MSA—P）5例，小脑萎缩型（MSA-C）1例，
文摘This paper reports a familial amyloid polyneuropathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset was about 3 to 5 decades. The initial symptoms were autonomic nerve symptoms, such as impotence, dyspepsia and diarrhoea, associated with the sensory loss of lower extremities. As the disease progressed, the upper extremities and motor ability were also involved. The duration of disease course was about 8-10 years, most patients died of infection and cachexia. Sural biopsy in 3 patients had showed positive Congo red staining. From the clinical view, this FAP family is similar to FAP I found in Japan. The true classification, however, should be confirmed by further genetic analysis.
