Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families
نویسندگان
چکیده
منابع مشابه
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families.
INTRODUCTION Among the hereditary systemic amyloidosis, transthyretin (TTR) neuropathies (OMIM #176300) are devastating disorders with an autosomal dominant transmission, expressed mainly as a progressive fibre length dependent sensorimotor polyneuropathy and life threatening autonomic dysfunction. Initially, the condition was recognised in northern Portugal, in the area of Povoa de Varzim, whe...
متن کاملPsychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy
Background: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a fatal, chronic, progressive disease. It is a rare hereditary amyloidosis, which manifests as a sensorimotor neuropathy and autonomic dysfunction. It begins during adulthood. Aims and Methods: Our aim is to evaluate psychopathological dimensions in a population attending a consultation center for TTR-FAP. Two hundred and ni...
متن کاملSelection of Transthyretin Amyloid Inhibitors
Amyloidosis is a group of clinical disorders caused by the aggregation of specific proteins into abnormal extracellular deposits. Today, 31 different proteins have been linked to amyloid diseases including transthyretin-related amyloidosis (ATTR). ATTR occurs through the aggregation of either wild-type plasma protein transthyretin (TTR) or a mutated form. TTR is a homotetramer that under normal...
متن کاملAmyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).
Amyloid fibril protein in patients with familial amyloidotic polyneuropathy is known to be chemically related to transthyretin (TTR), the plasma protein that is usually referred to as prealbumin. A genetically abnormal TTR may be involved in this disease. Studies were conducted on amyloid fibril protein (AFp) isolated from tissues of two Portuguese patients who died with familial amyloidosis, a...
متن کاملTransthyretin gene mutations in British and French patients with amyloid neuropathy.
Five patients, two British and three French, with late onset amyloid neuropathy were found to have mutations of the transthyretin (TTR) gene associated with the Portuguese and German types of familial amyloid polyneuropathy. Familial amyloid polyneuropathy is rare in the United Kingdom and has not previously been defined at a molecular genetic level. None of the patients had a history of affect...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2003
ISSN: 1468-6244
DOI: 10.1136/jmg.40.11.e120