Familial amyloid polyneuropathy: a new kinship of German ancestry.
Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disorder that primarily affects the peripheral and autonomic nervous systems and usually becomes symptomatic in the third or fourth decade. Because of the confusion with other genetically transmitted neurologic conditions, the diagnosis is often delayed until advanced stages. We describe a new German kinship with FAP in which the disorder was detected in two asymptomatic family members who were seeking genetic counseling.
D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics*; D001342:Autonomic Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005858:Germany; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*