Familial transthyretin-related amyloid polyneuropathy in a Malaysian patient of ethnic Chinese descent
- Author:
Khean-Jin Goh
;
Jong Hun Kim
;
Byoung Joon Kim
;
Chong-Tin Tan
- Publication Type:Case Reports
- From:Neurology Asia
2008;13(1):121-124
- CountryMalaysia
- Language:English
-
Abstract:
Familial amyloid polyneuropathy is commonly the result of deposition of variant transthyretin in nerves
and other organs. Apart from the Val30Met variant commonly seen in endemic areas of familial amyloid
polyneuropathy, many transthyretin mutations have been described in various populations worldwide.
We report a Malaysian patient of ethnic Chinese descent with familial amyloid polyneuropathy and
a transthyretin mutation, Ala117Ser. This mutation has not been previously reported in Chinese
patients. He presented in middle-age with carpal tunnel syndrome followed progressive sensorimotor
polyneuropathy. There was evidence of autonomic dysfunction clinically and cardiomyopathy on 2Dechocardiography.
Familial amyloid polyneuropathy is uncommon in Asian patients outside Japan, but
the diagnosis should be considered in a progressive late onset sensorimotor axonal polyneuropathy.
- Full text:P020150901425463171659.pdf
