Hereditary type 1 neuropathy

Common Name(s)

Hereditary type 1 neuropathy

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 type 1 neuropathy" 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 type 1 neuropathy" returned 10 free, full-text research articles on human participants. First 3 results:

Natural history and biomarkers in hereditary sensory neuropathy type 1.
 

Author(s): Vera Fridman, Anne Louise Oaklander, William S David, Elise A Johnson, Jessica Pan, Peter Novak, Robert H Brown, Florian S Eichler

Journal: Muscle Nerve. 2015 Apr;51(4):489-95.

 

Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is most commonly caused by missense mutations in SPTLC1. In this study we mapped symptom progression and compared the utility of outcomes.

Last Updated: 31 Dec 1969

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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
 

Author(s): Sinéad M Murphy, Daniela Ernst, Yu Wei, Matilde Laurà, Yo-Tsen Liu, James Polke, Julian Blake, John Winer, Henry Houlden, Thorsten Hornemann, Mary M Reilly

Journal: Neurology. 2013 Jun;80(23):2106-11.

 

To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation.

Last Updated: 31 Dec 1969

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Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
 

Author(s): Kevin Garofalo, Anke Penno, Brian P Schmidt, Ho-Joon Lee, Matthew P Frosch, Arnold von Eckardstein, Robert H Brown, Thorsten Hornemann, Florian S Eichler

Journal: J. Clin. Invest.. 2011 Dec;121(12):4735-45.

 

Hereditary sensory and autonomic neuropathy type 1 (HSAN1) causes sensory loss that predominantly affects the lower limbs, often preceded by hyperpathia and spontaneous shooting or lancinating pain. It is caused by several missense mutations in the genes encoding 2 of the 3 subunits ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Hereditary type 1 neuropathy" 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

Phase I/IIa Trial Evaluating scAAV1.tMCK.NTF3 for Treatment of CMT1A
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Neuropathy Type 1A

 

Last Updated: 27 Apr 2018

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Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A
 

Status: Recruiting

Condition Summary: Charcot-Marie-Tooth Disease, Type IA

 

Last Updated: 4 May 2018

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Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
 

Status: Not yet recruiting

Condition Summary: Charcot-Marie-Tooth Disease Type 1A

 

Last Updated: 3 Nov 2015

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