Familial amyloid polyneuropathy

Jump to: navigation, search

WikiDoc Resources for

Familial amyloid polyneuropathy

Articles

Most recent articles on Familial amyloid polyneuropathy

Most cited articles on Familial amyloid polyneuropathy

Review articles on Familial amyloid polyneuropathy

Articles on Familial amyloid polyneuropathy in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Familial amyloid polyneuropathy

Images of Familial amyloid polyneuropathy

Photos of Familial amyloid polyneuropathy

Podcasts & MP3s on Familial amyloid polyneuropathy

Videos on Familial amyloid polyneuropathy

Evidence Based Medicine

Cochrane Collaboration on Familial amyloid polyneuropathy

Bandolier on Familial amyloid polyneuropathy

TRIP on Familial amyloid polyneuropathy

Clinical Trials

Ongoing Trials on Familial amyloid polyneuropathy at Clinical Trials.gov

Trial results on Familial amyloid polyneuropathy

Clinical Trials on Familial amyloid polyneuropathy at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Familial amyloid polyneuropathy

NICE Guidance on Familial amyloid polyneuropathy

NHS PRODIGY Guidance

FDA on Familial amyloid polyneuropathy

CDC on Familial amyloid polyneuropathy

Books

Books on Familial amyloid polyneuropathy

News

Familial amyloid polyneuropathy in the news

Be alerted to news on Familial amyloid polyneuropathy

News trends on Familial amyloid polyneuropathy

Commentary

Blogs on Familial amyloid polyneuropathy

Definitions

Definitions of Familial amyloid polyneuropathy

Patient Resources / Community

Patient resources on Familial amyloid polyneuropathy

Discussion groups on Familial amyloid polyneuropathy

Patient Handouts on Familial amyloid polyneuropathy

Directions to Hospitals Treating Familial amyloid polyneuropathy

Risk calculators and risk factors for Familial amyloid polyneuropathy

Healthcare Provider Resources

Symptoms of Familial amyloid polyneuropathy

Causes & Risk Factors for Familial amyloid polyneuropathy

Diagnostic studies for Familial amyloid polyneuropathy

Treatment of Familial amyloid polyneuropathy

Continuing Medical Education (CME)

CME Programs on Familial amyloid polyneuropathy

International

Familial amyloid polyneuropathy en Espanol

Familial amyloid polyneuropathy en Francais

Business

Familial amyloid polyneuropathy in the Marketplace

Patents on Familial amyloid polyneuropathy

Experimental / Informatics

List of terms related to Familial amyloid polyneuropathy


Overview

Familial amyloid polyneuropathy (FAP) or Corino de Andrade's disease, a form of Paramyloidosis, is a neurodegenerative autosomal dominant genetically transmitted disease, first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in the 50s. It is a fatal and incurable disease.

Cause

Familial amyloid polyneuropathy is inherited in an autosomal dominant pattern.

Being an autosomal dominant genetically transmitted disease, FAP is transmitted from parents to sons, one mutated gene being enough (in only one of the alleles), in any of the progenitors, for the disease to be passed on.

Pathology

FAP is characterized by the systemic deposition of amyloidogenic variants of the transthyretin protein, especially in the peripheral nervous system, causing a progressive sensory and motorial polyneuropathy.

Symptoms

Usually manifesting itself between 20 and 40 years of age, it is characterized by pain, paresthesia, muscular weakness and autonomic dysfunction. In its terminal state, the kidneys and the heart are affected. In the absence of a liver transplant, FAP is invariably fatal.

Epidemiology

This disease is endemic in Portuguese locations Póvoa de Varzim and Vila do Conde (Caxinas), with more than 1000 affected people, coming from about 500 families, where 70% of the people develop the illness. It was brought by Vikings from Scandinavia during the Middle Age. In northern Sweden, more specifically Piteå, Skellefteå and Umeå, 1.5% of the population has the mutated gene. There are many other populations in the world who exhibit the illness after having developed it independently.

Bibliography

Andrade C., A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves, Brain 1952; 75:408-27.

External links


Linked-in.jpg