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 65 free, full-text research articles on human participants. First 3 results:

Aqueous humor erythropoietin levels in open-angle glaucoma patients with and without TTR V30M familial amyloid polyneuropathy.
 

Author(s): João M Beirão, Luciana M Moreira, João C Oliveira, Maria J Menéres, Bernardete B Pessoa, Maria E Matos, Paulo P Costa, Paulo A Torres, Idalina B Beirão

Journal:

 

Glaucoma is the leading cause of irreversible blindness in familial amyloidotic polyneuropathy (FAP) patients. Erythropoietin (EPO) is a cytokine that has been shown to play a role in neuroprotection and is endogenously produced in the eye. EPO levels in the aqueous humor are increased ...

Last Updated: 14 Jul 2014

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Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study.
 

Author(s): Juan Buades Reinés, Tomás Ripoll Vera, Mercedes Uson Martín, Hernán Andréu Serra, Ma Margarita Company Campins, José Miguel Diéguez Millán, Cristina Gallego Lezaun, Manuel Raya Cruz

Journal:

 

Transthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by the deposition of abnormal transthyretin that results from a gene mutation. Although rare worldwide, there are descriptions of several endemic foci, such as in Majorca, Balearic ...

Last Updated: 5 Mar 2014

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Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial.
 

Author(s): John L Berk, Ole B Suhr, Laura Obici, Yoshiki Sekijima, Steven R Zeldenrust, Taro Yamashita, Michael A Heneghan, Peter D Gorevic, William J Litchy, Janice F Wiesman, Erik Nordh, Manuel Corato, Alessandro Lozza, Andrea Cortese, Jessica Robinson-Papp, Theodore Colton, Denis V Rybin, Alice B Bisbee, Yukio Ando, Shu-ichi Ikeda, David C Seldin, Giampaolo Merlini, Martha Skinner, Jeffery W Kelly, Peter J Dyck,

Journal: JAMA. 2013 Dec;310(24):2658-67.

 

Familial amyloid polyneuropathy, a lethal genetic disease caused by aggregation of variant transthyretin, induces progressive peripheral nerve deficits and disability. Diflunisal, a nonsteroidal anti-inflammatory agent, stabilizes transthyretin tetramers and prevents amyloid fibril ...

Last Updated: 25 Dec 2013

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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 1 free, full-text review articles on human participants. First 3 results:

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: 10 Nov 2014

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Study of SOM0226 in Familial Amyloid Polyneuropathy
 

Status: Recruiting

Condition Summary: Familial Amyloid Polyneuropathy (FAP)

 

Last Updated: 14 Jul 2014

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Last Updated: 25 Apr 2011

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