SPTLC1 is mutated in hereditary sensory neuropathy...[Nat Genet. 2001]

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1: Nat Genet. 2001 Mar;27(3):261-2. Links

SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.

C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA.

Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2-4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.

PMID: 11242106 [PubMed - indexed for MEDLINE]

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.

[Nat Genet. 2001]
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Neurology. 2004 Mar 23; 62(6):1001-2.

[Neurology. 2004]
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Neuromuscul Disord. 2002 Oct; 12(7-8):656-8.

[Neuromuscul Disord. 2002]
ReviewHereditary sensory neuropathies.
Curr Opin Neurol. 2004 Oct; 17(5):569-77.

[Curr Opin Neurol. 2004]
ReviewSerine palmitoyltransferase, a key enzyme of sphingolipid metabolism.
Biochim Biophys Acta. 2003 Jun 10; 1632(1-3):16-30.

[Biochim Biophys Acta. 2003]
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Foulkes T, Wood JN. PLoS Genet. 2008 Jul 25; 4(7):e1000086. Epub 2008 Jul 25.

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ReviewHereditary sensory neuropathy type I.
Auer-Grumbach M. Orphanet J Rare Dis. 2008 Mar 18; 3:7. Epub 2008 Mar 18.

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