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

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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Macular and optic disc edema and retinal vascular leakage in familial amyloid polyneuropathy with a transthyretin Val30Met mutation: a case report.
 

Author(s): Arnaldo Dias-Santos, Joana Ferreira, João Paulo Cunha

Journal:

 

Familial amyloid polyneuropathy is a group of autosomal dominant disorders characterized by extracellular amyloid deposition in several target organs. This paper aims to report an unusual manifestation of retinal vascular leakage including optic disc and macular edema in a patient ...

Last Updated: 10 Oct 2014

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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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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

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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: 12 Mar 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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Transthyretin-Associated Amyloidoses Outcome Survey (THAOS)
 

Status: Recruiting

Condition Summary: Transthyretin Mutations; Transthyretin Amyloidosis

 

Last Updated: 21 Jul 2015

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