Familial amyloid polyneuropathy
- Familial amyloid polyneuropathy
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 [http://en.wikipedia.org/wiki/Corino_Andrade] , in the 50s. It is a fatal and incurable disease.
Cause
Being an autosomal dominant genetically transmitted disease, FAP is transmitted from parents to children, 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
* [http://www.jneurosci.org/cgi/content/abstract/21/19/7576 Related article at "The Journal of Neuroscience"]
* [http://www.paramiloidose.com Portuguese Paramyloidosis Association (in Portuguese)]
* [http://www.paramiloidose.org/ Center for study and support for Paramyloidosis (in Portuguese)]
Wikimedia Foundation.
2010.
Look at other dictionaries:
familial amyloid polyneuropathy — autosomal dominant amyloid polyneuropathy, associated with hereditary amyloidosis (q.v.) and involving deposition of amyloid in some combination of the peripheral and autonomic nerves, heart, kidney, and other organs; it was subclassified on the… … Medical dictionary
Familial amyloid neuropathy — Classification and external resources ICD 10 E85.1 ICD 9 277.3 … Wikipedia
amyloid polyneuropathy — polyneuropathy associated with amyloidosis, of either the primary (AL) or familial type; symptoms may include dysfunction of the autonomic nervous system, carpal tunnel syndrome, and sensory disturbances in the extremities such as numbness,… … Medical dictionary
FAP — • familial adenomatous polyposis; • familial amyloid polyneuropathy; • fatty acid polyunsaturated; • fatty acid poor; • femoral artery pressure; • fibrillating action potential; • Fibrinolytics vs Primary Angioplasty [trial]; • fixed action… … Dictionary of medical acronyms & abbreviations
Transthyretin-related hereditary amyloidosis — Classification and external resources OMIM 105210 eMedicine article/335301 Familial amyloid polyneuropathy (FAP), also c … Wikipedia
Transthyretin — (TTR) is a serum and cerebrospinal fluid carrier of the thyroid hormone thyroxine (T4). TTR was originally called prealbumin [MeshName|Prealbumin] because it ran faster than albumins on electrophoresis gels.Binding affinitiesIt functions in… … Wikipedia
List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… … Wikipedia
Hereditary amyloidosis — A familial (inherited) disorder in which protein deposits (amyloid) accumulate in one or more organ systems in the body. Hereditary amyloidosis is a relatively uncommon cause of amyloidosis. The more common forms of amyloidosis are primary an… … Medical dictionary
amyloidosis — /am euh loy doh sis/, n., pl. amyloidoses / seez/. Pathol. 1. a deposit of amyloid in tissues or organs. 2. the diseased state resulting from this deposit. [1895 1900; AMYLOID + OSIS] * * * ▪ pathology disease characterized by the… … Universalium
List of diseases (F) — A list of diseases in the English wikipedia.DiseasesTOC FaFab* Fabry s diseaseFacFace Faci* Faces syndrome * Facial asymmetry temporal seizures * Facial clefting corpus callosum agenesis * Facial dysmorphism macrocephaly myopia Dandy Walker type… … Wikipedia
