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Xu, C. Hereditary Sensory Neuropathy Type IA. Encyclopedia. Available online: https://encyclopedia.pub/entry/4075 (accessed on 29 September 2026).
Xu C. Hereditary Sensory Neuropathy Type IA. Encyclopedia. Available at: https://encyclopedia.pub/entry/4075. Accessed September 29, 2026.
Xu, Camila. "Hereditary Sensory Neuropathy Type IA" Encyclopedia, https://encyclopedia.pub/entry/4075 (accessed September 29, 2026).
Xu, C. (2020, December 23). Hereditary Sensory Neuropathy Type IA. In Encyclopedia. https://encyclopedia.pub/entry/4075
Xu, Camila. "Hereditary Sensory Neuropathy Type IA." Encyclopedia. Web. 23 December, 2020.
Hereditary Sensory Neuropathy Type IA
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-sensory-neuropathy-type-ia

Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy).

genetic conditions

References

  1. 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. 2001Mar;27(3):261-2.
  2. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, causehereditary sensory neuropathy type I. Nat Genet. 2001 Mar;27(3):309-12.
  3. 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, pathologicaland genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006 Feb;129(Pt 2):411-25.
  4. Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, StoeckliET, Nicholson G, Eichler F, Brown RH Jr, von Eckardstein A, Hornemann T.Hereditary sensory neuropathy type 1 is caused by the accumulation of twoneurotoxic sphingolipids. J Biol Chem. 2010 Apr 9;285(15):11178-87. doi:10.1074/jbc.M109.092973.
  5. Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, AsselberghB, Van Hoof K, Sticht H, Lévy N, Timmerman V, Hornemann T, Janssens K.Characterization of two mutations in the SPTLC1 subunit of serinepalmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat. 2011 Jun;32(6):E2211-25. doi: 10.1002/humu.21481.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 613
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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