Hereditary sensory neuropathy type 2

Common Name(s)

Hereditary sensory neuropathy type 2

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary sensory neuropathy type 2" 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 "Hereditary sensory neuropathy type 2" returned 6 free, full-text research articles on human participants. First 3 results:

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.
 

Author(s): Anna Potulska-Chromik, Dagmara Kabzińska, Marta Lipowska, Anna Kostera-Pruszczyk, Andrzej Kochański

Journal: Acta Biochim. Pol.. 2012 ;59(3):413-5.

 

Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous ...

Last Updated: 3 Oct 2012

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Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation.
 

Author(s): Ryoichi Takahashi, Tokuhei Ikeda, Ayumi Hamaguchi, Kazuo Iwasa, Masahito Yamada

Journal: Intern. Med.. 2012 ;51(7):791-3.

 

Hereditary motor sensory neuropathy type VI (HMSN VI) is hereditary neuropathy accompanied by optic neuropathy. The feasibility of Coenzyme Q10 (CoQ10) as a treatment for subacute visual impairment of HMSN VI was examined. A 37-year-old patient with HMSN VI with a novel mitofusin ...

Last Updated: 2 Apr 2012

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KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
 

Author(s): Jean-Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, Masoud Shekarabi, Sébastien Holbert, Julie Lafontaine, Myriam Srour, Nancy Merner, Daniel Rochefort, Pascale Hince, Rébecca Gaudet, Anne-Marie Mes-Masson, Jonathan Baets, Henry Houlden, Bernard Brais, Garth A Nicholson, Hilde Van Esch, Shahriar Nafissi, Peter De Jonghe, Mary M Reilly, Vincent Timmerman, Patrick A Dion, Guy A Rouleau

Journal: Am. J. Hum. Genet.. 2011 Aug;89(2):219-30.

 

Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-recessive disorder characterized by peripheral nerve degeneration resulting in a severe distal sensory loss. Although mutations in FAM134B and the HSN2 exon of WNK1 were associated with HSANII, the etiology ...

Last Updated: 12 Aug 2011

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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 "Hereditary sensory neuropathy type 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
 

Status: Recruiting

Condition Summary: Charcot Marie Tooth Disease

 

Last Updated: 25 Mar 2014

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Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Disease, Type Ia (Disorder); HMSN

 

Last Updated: 25 Mar 2014

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