Neurotrophic Keratopathy in Type I Familial Amyloidotic Polyneuropathy - a New Therapeutic Approach -
ثبت نشده
چکیده
منابع مشابه
Peripheral Neuroinflammation and Novel Potential Therapeutic Targets in Familial Amyloidotic Polyneuropathy
.........................................................................................................................17 Resumo ..........................................................................................................................19 General Introduction ......................................................................................................21 Transthyretin ....
متن کاملFamilial amyloidotic polyneuropathy without familial occurrence: carrier detection by the radioimmunoassay of variant transthyretin.
A 47 year old woman with familial amyloidotic polyneuropathy (FAP) is reported, without familial occurrence of the disease. Her 81 year old mother and 53 year old sister were proved to be asymptomatic carriers for variant transthyretin (TTR) by means of the radioimmunoassay. It is suggested that unknown factor(s) may play a role in preventing or delaying the onset of the disease, producing vari...
متن کاملIdentification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I.
A method is described for detecting carriers of a variant plasma prealbumin that is associated with familial amyloidotic polyneuropathy (FAP) type I. It is based on the finding of an extra methionine in the variant prealbumin, at position 30 from the amino terminals. Since normal prealbumin has only one methionine (position 13), treatment with cyanogen bromide (CNBr), which cleaves only at meth...
متن کاملTransthyretin-related familial amyloidotic polyneuropathy.
Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or double mutations, or a dele...
متن کاملAccelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report
INTRODUCTION Hereditary amyloidodis is a rare disease process with a propensity to cause polyneuropathies, autonomic dysfunction, and restrictive cardiomyopathy. It is transmitted in an autosomal dominant manner, with disease onset usually in the 20s-40s. The most common hereditary amyloidogenic protein, transthyretin, is synthesized in the liver and lies on Chromosome 18. Over 80 amyloidogenic...
متن کامل