Hereditary sensory neuropathy type 1
Other Names for this Disease
- Hereditary sensory and autonomic neuropathy type 1
- HSAN 1
- Neuropathy hereditary sensory and autonomic type 1
- Neuropathy hereditary sensory radicular, autosomal dominant
Tests & Diagnosis
HSN1A (the most common form) is associated with mutations in the SPTLC1 gene
HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified
HSN1C is caused by mutations in the SPTLC2 gene
HSN1D is caused by mutations in the ATL1 gene (the same gene is implicated as the cause of early-onset hereditary spastic paraplegia 3A)
The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1.If the genetic mutation in an affected person has been identified, testing for at-risk, asymptomatic adult family members may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in asymptomatic people.
- Robert P Cruse. Hereditary sensory and autonomic neuropathies. UpToDate. Waltham, MA: UpToDate; September, 2014; Accessed 9/3/2014.
- Garth A Nicholson. Hereditary Sensory Neuropathy Type 1A. GeneReviews. March 7, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1390/. Accessed 9/3/2014.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.