関: familial amyloid polyneuropathy

WordNet

relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
(pathology) a waxy translucent complex protein resembling starch that results from degeneration of tissue
a non-nitrogenous food substance consisting chiefly of starch; any substance resembling starch
any pathology of the peripheral nerves

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家族の,家族特有の / 違伝的な,血統にあらわれる

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/08 11:55:58」(JST)

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The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation.^[1]^[2]^[3]

Classification

The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin.^[4]

Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first.^[5]

"FAP-I" and "FAP-II" are associated with transthyretin.^[1]^[6] (Senile systemic amyloidosis is also associated with transthyretin aggregation.)

"FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1.^[7]

"FAP-IV" is also known as "Finnish-type", and involves gelsolin.^[8]

Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis.

Treatment

Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.^[9]

Alternatively, a European Medicines Agency approved drug Tafamidis or Vyndaqel now exists which stabilizes transthyretin tetramers comprising wild type and different mutant subunits against amyloidogenesis halting the progression of peripheral neuropathy and autonomic nervous system dysfunction.^[10]

Currently there are two ongoing clinical trials undergoing recruitment in the United States and worldwide to evaluate investigational medicines that could possibly treat TTR. ^[11]^[12]

References

^ ^a ^b Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves". Brain 75 (3): 408–27. doi:10.1093/brain/75.3.408. PMID 12978172.
^ Kelly JW (February 1996). "Alternative conformations of amyloidogenic proteins govern their behavior". Curr. Opin. Struct. Biol. 6 (1): 11–7. doi:10.1016/S0959-440X(96)80089-3. PMID 8696966.
^ Dobson CM (December 2003). "Protein folding and misfolding". Nature 426 (6968): 884–90. doi:10.1038/nature02261. PMID 14685248.
^ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton (Hoboken) 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256.
^ Delahaye N, Rouzet F, Sarda L; et al. (July 2006). "Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy". Medicine (Baltimore) 85 (4): 229–38. doi:10.1097/01.md.0000232559.22098.c3. PMID 16862048.
^ "Amyloid".
^ "Amyloid".
^ Akiya S, Nishio Y, Ibi K, et al. (July 1996). "Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV". Ophthalmology 103 (7): 1106–10. doi:10.1016/s0161-6420(96)30560-5. PMID 8684801.
^ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program.
^ Hammarström P, Wiseman RL, Powers ET, Kelly JW (January 2003). "Prevention of transthyretin amyloid disease by changing protein misfolding energetics". Science 299 (5607): 713–6. doi:10.1126/science.1079589. PMID 12560553.
^ https://clinicaltrials.gov/ct2/show/NCT01960348
^ http://apollotrial.com/

External links

Reference centre for familial amyloid polyneuropathy
World wide clinical trial for the evaluation of an investigational medicine for the possible treatment of Familial Amyloidotic Polyneuropathy (FAP

UpToDate Contents

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1. アミロイドーシスの概要 an overview of amyloidosis
2. アミロイド心筋症の臨床症状および診断 clinical manifestations and diagnosis of amyloid cardiomyopathy
3. アミロイド疾患の遺伝的要因 genetic factors in the amyloid diseases
4. 多発性神経障害の概要 overview of polyneuropathy
5. アミロイドーシスの筋骨格系の症状 musculoskeletal manifestations of amyloidosis

English Journal

"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.

Conceição I1, González-Duarte A2, Obici L3, Schmidt HH4, Simoneau D5, Ong ML6, Amass L6.
Journal of the peripheral nervous system : JPNS.J Peripher Nerv Syst.2015 Dec 13. doi: 10.1111/jns.12153. [Epub ahead of print]
BACKGROUND: Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, h
PMID 26663427

Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis.

Gertz MA1, Benson MD2, Dyck PJ3, Grogan M4, Coelho T5, Cruz M6, Berk JL7, Plante-Bordeneuve V8, Schmidt HH9, Merlini G10.
Journal of the American College of Cardiology.J Am Coll Cardiol.2015 Dec 1;66(21):2451-66. doi: 10.1016/j.jacc.2015.09.075.
Transthyretin amyloidosis is a fatal disorder that is characterized primarily by progressive neuropathy and cardiomyopathy. It occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predominant cardiac involvement). This article guides clinicians as to when the
PMID 26610878

A Review of Tafamidis for the Treatment of Transthyretin-Related Amyloidosis.

Waddington Cruz M1, Benson MD2.
Neurology and therapy.Neurol Ther.2015 Dec;4(2):61-79. doi: 10.1007/s40120-015-0031-3. Epub 2015 Aug 15.
Transthyretin (TTR)-related amyloidosis (ATTR) is a devastating disease which affects a combination of organs including the heart and the peripheral nerves, and which has a fatal outcome if not treated within a average of 10 years. Tafamidis, or 2-(3,5-dichloro-phenyl)-benzoxazole-6-carboxylic acid
PMID 26662359