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References

These sources were used to develop the Genetics Home Reference condition summary on hereditary sensory neuropathy type 1.

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. PubMed citation
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. PubMed citation
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. PubMed citation
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. PubMed citation
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. PubMed citation
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. PubMed citation


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