Document Detail


Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
MedLine Citation:
PMID:  12207934     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Recently point mutations in the SPTLC1 subunit of serine palmitoyltransferase have been shown to cause the common form of dominant hereditary sensory neuropathy (HSN1). Serine palmitoyltransferase (SPT) is a heterodimeric molecule made up of two subunits, SPTLC1 and SPTLC2. Twelve index patients from families with presumed genetic sensory neuropathies were screened for SPTLC2 mutations. These families comprised six multigenerational families, including two previously reported families not linked to the SPTLC1 locus on chromosome 9 and one multigenerational family with a complicated hereditary sensory neuropathy syndrome with associated palmar plantar keratosis, ataxia and spastic paraplegia. The remaining families included one consanguineous family with presumed recessive HSN with two affected siblings, one case of congenital sensory neuropathy and four sporadic cases with adult onset sensory neuropathy. No mutations in the SPTLC2 gene were found in any family. These results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies.
Authors:
Jennifer L Dawkins; Sonal Brahmbhatt; Michaela Auer-Grumbach; Klaus Wagner; Hans-Peter Hartung; Kristien Verhoeven; Vincent Timmerman; Peter De Jonghe; Marina Kennerson; Eric LeGuern; Garth A Nicholson
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  12     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-09-04     Completed Date:  2002-12-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  656-8     Citation Subset:  IM    
Affiliation:
Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Concord Hospital, NSW 2139, Australia
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MeSH Terms
Descriptor/Qualifier:
Acyltransferases / genetics*
Chromosomes, Human, Pair 14
Exons
Hereditary Sensory and Autonomic Neuropathies / genetics*,  physiopathology
Humans
Mutation*
Polymerase Chain Reaction
Serine C-Palmitoyltransferase
Chemical
Reg. No./Substance:
EC 2.3.-/Acyltransferases; EC 2.3.1.50/SPTLC2 protein, human; EC 2.3.1.50/Serine C-Palmitoyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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