Familial amyloid polyneuropathy--clinical report of a family.
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.
Li
Y
Y
Department of Neurology, PUMC Hospital, Beijing.
Guo
Y
Y
Ikeda
S
S
Fang
D
D
D000328:Adult; D017772:Amyloid Neuropathies / Q000175:diagnosis / Q000235:genetics*; D001342:Autonomic Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology