Hereditary type 1 neuropathy

Common Name(s)

Hereditary type 1 neuropathy

Description for this condition is not yet available.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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: 4 Jun 2013

Go To URL
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: 11 Jan 2012

Go To URL
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
 

Author(s): Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M Strom, Jonathan Baets, Jan Willems, Peter De Jonghe, Mary M Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R Pieber, Andreas R Janecke, Craig Blackstone, Michaela Auer-Grumbach

Journal: Am. J. Hum. Genet.. 2011 Jan;88(1):99-105.

 

Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. Unrecognized, these can result in delayed wound healing and osteomyelitis, necessitating ...

Last Updated: 7 Jan 2011

Go To URL

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 type 1 neuropathy" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Magnetic Resonance Diagnostics of Diabetic Peripheral Neuropathy
 

Status: Not yet recruiting

Condition Summary: Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Diabetic Polyneuropathy; Hereditary Axonal Neuropathy; Hereditary Demyelinated Neuropathy; Polyneuropathy, Inflammatory Demyelinating, Chronic

 

Last Updated: 3 May 2013

Go to URL

Last Updated: 13 Dec 2012

Go to URL
Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot−Marie−Tooth Neuropathy Type 1A (CMT1A)
 

Status: Not yet recruiting

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

 

Last Updated: 3 Feb 2011

Go to URL