%0 Journal Article
%T Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
%A Prashantha D
%A Taly Arun
%A Sinha Sanjib
%A Yasha T
%J Annals of Indian Academy of Neurology
%D 2010
%I Medknow Publications
%X Familial amyloidotic polyneuropathy (FAN type 1) is a rare systemic disease that causes severe and disabling peripheral neuropathy. We describe the phenotypic, radiological, and pathological characteristics of a patient with familial amyloid polyneuropathy type 1 who had evidence of motor-sensory-autonomic neuropathy, ocular vitreous deposits, diffuse leptomeningeal involvement, and hypertrophic cardiomyopathy. Muscle involvement, an infrequently reported feature, was also observed. Early recognition of the disease has significant therapeutic implications.
%K Amyloidosis
%K cardiomyopathy
%K familial amyloidotic polyneuropathy
%K leptomeningitis
%K myopathy
%K neuropathy
%K vitreous deposits
%U http://www.annalsofian.org/article.asp?issn=0972-2327;year=2010;volume=13;issue=2;spage=142;epage=144;aulast=Prashantha