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Genetics Home Reference: your guide to understanding genetic conditions
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Hereditary sensory neuropathy type 1

Reviewed December 2009

What is hereditary sensory neuropathy type 1?

Hereditary sensory neuropathy type 1 is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older, but this varies widely within families.

Affected individuals typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek treatment right away. Without treatment, the ulcers can become infected and may require amputation of the surrounding area.

Rarely, people with hereditary sensory neuropathy type 1 will develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss).

The signs and symptoms of hereditary sensory neuropathy type 1 typically appear during a person's teens or twenties. While the features of this disorder tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.

How common is hereditary sensory neuropathy type 1?

Hereditary sensory neuropathy type 1 is a rare condition, although its exact prevalence is unknown.

What genes are related to hereditary sensory neuropathy type 1?

Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type 1. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions.

SPTLC1 gene mutations reduce the amount of SPTLC1 subunit that is produced and result in an SPT enzyme with decreased function. A lack of functional SPT enzyme leads to a decrease in sphingolipid production and a harmful buildup of certain byproducts. Sphingolipids are found in myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. A decrease in sphingolipids disrupts the formation of myelin, causing nerve cells to become less efficient and eventually die. When sphingolipids are not made, an accumulation of toxic byproducts can also lead to nerve cell death. This gradual destruction of nerve cells results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type 1.

Related Gene(s)

Changes in this gene are associated with hereditary sensory neuropathy type 1.

  • SPTLC1

How do people inherit hereditary sensory neuropathy type 1?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of hereditary sensory neuropathy type 1?

These resources address the diagnosis or management of hereditary sensory neuropathy type 1 and may include treatment providers.

  • Gene Review: Hereditary Sensory Neuropathy Type IA (http://www.ncbi.nlm.nih.gov/books/NBK1390/)
  • Genetic Testing Registry: Neuropathy hereditary sensory and autonomic type 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0020071)

You might also find information on the diagnosis or management of hereditary sensory neuropathy type 1 in Educational resources (http://www.ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-1/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-1/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about hereditary sensory neuropathy type 1?

You may find the following resources about hereditary sensory neuropathy type 1 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for hereditary sensory neuropathy type 1?

  • hereditary sensory and autonomic neuropathy type 1
  • Hereditary sensory and autonomic neuropathy type I
  • hereditary sensory neuropathy type I
  • hereditary sensory neuropathy type IA
  • HSAN
  • HSAN 1
  • HSAN Type I
  • HSN1
  • HSN I
  • HSN Type I
  • neuropathy hereditary sensory and autonomic type 1

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about hereditary sensory neuropathy type 1?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding hereditary sensory neuropathy type 1?

autosomal ; autosomal dominant ; cell ; enzyme ; gene ; hereditary ; inherited ; nerve cell ; neuropathy ; peripheral ; peripheral neuropathy ; prevalence ; sensorineural ; sensorineural hearing loss ; sensory neuropathy ; serine ; soft tissue ; subunit ; tissue ; toxic ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Auer-Grumbach M. Hereditary sensory neuropathy type I. Orphanet J Rare Dis. 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18348718?dopt=Abstract)
  • Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH Jr, Holleran WM, Hanada K. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest. 2002 Nov;110(9):1301-8. (http://www.ncbi.nlm.nih.gov/pubmed/12417569?dopt=Abstract)
  • Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet. 2001 Mar;27(3):261-2. (http://www.ncbi.nlm.nih.gov/pubmed/11242106?dopt=Abstract)
  • Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12. (http://www.ncbi.nlm.nih.gov/pubmed/11242114?dopt=Abstract)
  • Hornemann T, Penno A, Richard S, Nicholson G, van Dijk FS, Rotthier A, Timmerman V, von Eckardstein A. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Neurogenetics. 2009 Apr;10(2):135-43. doi: 10.1007/s10048-008-0168-7. Epub 2009 Jan 9. (http://www.ncbi.nlm.nih.gov/pubmed/19132419?dopt=Abstract)
  • Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25. Epub 2005 Dec 19. (http://www.ncbi.nlm.nih.gov/pubmed/16364956?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2009
Published: August 25, 2014