Familial Amyloid Polyneuropathy

Common Name(s)

Familial Amyloid Polyneuropathy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Amyloid Polyneuropathy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial Amyloid Polyneuropathy" returned 77 free, full-text research articles on human participants. First 3 results:

Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
 

Author(s): Jinping Liu, Jie Lan, Peng Zhao, Fang Zheng, Jingjing Song, Peilan Zhang, Xuguo Sun

Journal:

 

Transthyretin (TTR) is a major amyloid fibril protein found in patients with familial amyloidotic polynuropathy (FAP) and senile systemic amyloidosis (SSA). Mainly synthesized in the live, TTR is transferred in the form of tetramer bound with thyroxine, retinol-binding protein (RBP) ...

Last Updated: 31 Dec 2014

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In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography.
 

Author(s): Jennifer Kollmer, Ernst Hund, Benjamin Hornung, Ute Hegenbart, Stefan O Schönland, Christoph Kimmich, Arnt V Kristen, Jan Purrucker, Christoph Röcken, Sabine Heiland, Martin Bendszus, Mirko Pham

Journal: Brain. 2015 Mar;138(Pt 3):549-62.

 

Transthyretin familial amyloid polyneuropathy is a rare, autosomal-dominant inherited multisystem disorder usually manifesting with a rapidly progressive, axonal, distally-symmetric polyneuropathy. The detection of nerve injury by nerve conduction studies is limited, due to preferential ...

Last Updated: 25 Feb 2015

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Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via autophagy in cell model of familial amyloid polyneuropathy.
 

Author(s): Hui Li, Yu Zhang, Li Cao, Ran Xiong, Bei Zhang, Li Wu, Zongbo Zhao, Sheng-Di Chen

Journal:

 

Transthyretin (TTR) familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited neurodegenerative disorder caused by various mutations in the transthyretin gene. We aimed to identify the mechanisms underlying TTR FAP with Tyr114Cys (Y114C) mutation. Our study showed that ...

Last Updated: 10 Nov 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial Amyloid Polyneuropathy" returned 2 free, full-text review articles on human participants. First 3 results:

[Ocular involvement in familial amyloid polyneuropathy].
 

Author(s): A Rousseau, G Kaswin, D Adams, C Cauquil, M Théaudin, Z Mincheva, M M'garrech, M Labetoulle, E Barreau

Journal: J Fr Ophtalmol. 2013 Nov;36(9):779-88.

 

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adult onset, which is transmitted as an autosomal dominant trait. In addition to neurologic symptoms, FAP may be associated with weight loss, ...

Last Updated: 4 Nov 2013

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A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation.
 

Author(s): Syoichiro Kono, Yasuhiro Manabe, Tomotaka Tanaka, Daiki Fujii, Yasuko Sakai, Hisashi Narai, Nobuhiko Omori, Mitsuharu Ueda, Yukio Ando, Koji Abe

Journal: Intern. Med.. 2010 ;49(12):1213-6.

 

We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without ...

Last Updated: 18 Jun 2010

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy and Safety of ISIS-TTR Rx in Familial Amyloid Polyneuropathy
 

Status: Recruiting

Condition Summary: FAP; Familial Amyloid Polyneuropathy; TTR; Transthyretin; Amyloidosis

 

Last Updated: 7 Aug 2015

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Study of SOM0226 in Familial Amyloid Polyneuropathy
 

Status: Recruiting

Condition Summary: Familial Amyloid Polyneuropathy (FAP)

 

Last Updated: 19 May 2015

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The Study of an Investigational Drug, Revusiran (ALN-TTRSC), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Patients Whose Disease Has Continued to Worsen Following Liver Transplant
 

Status: Recruiting

Condition Summary: Transthyretin (TTR)-Mediated Amyloidosis; Familial Amyloidotic Polyneuropathy (FAP); ATTR Amyloidosis; Familial Amyloid Neuropathies

 

Last Updated: 4 Dec 2015

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