Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Dawkins, JL; Brahmbhatt, S; Auer-Grumbach, M; Wagner, K; Hartung, HP; Verhoeven, K; Timmerman, V; De Jonghe, P; Kennerson, M; LeGuern, E; Nicholson, GA.
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Neuromuscul Disord. 2002; 12(7-8):656-658
Doi: 10.1016%2FS0960-8966%2802%2900015-9
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- Co-Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
- Wagner Klaus
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Acyltransferases - genetics
- Chromosomes, Human, Pair 14 - genetics
- Exons - genetics
- Hereditary Sensory and Autonomic Neuropathies - genetics
- Humans - genetics
- Mutation - genetics
- Polymerase Chain Reaction - genetics
- Serine C-Palmitoyltransferase - genetics
- Find related publications in this database (Keywords)
- serine palmitoyltransferase subunit 2
- hereditary sensory neuropathy
- hereditary sensory and autonomic neuropathy