Portuguese-type amyloid neuropathy in an English family.
A 31-year-old woman thought to be suffering from a psychiatric illness was found to have peripheral and autonomic neuropathy, keratoconjunctivitis sicca and vitreous opacities. Her mother had died 10 years previously, aged 42 years from an undiagnosed illness with similar features. Histological proof of amyloidosis was obtained in both cases. This is the second report of familial amyloid neuropathy in an English family.
D000328:Adult; D000686:Amyloidosis / Q000235:genetics*; D005260:Female; D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*