Literature DB >> 16271825

Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings.

Andrea J Lindahl1, Sam D Lhatoo, Malcolm J Campbell, Garth Nicholson, Seth Love.   

Abstract

There is little published information on the autopsy findings in hereditary sensory neuropathy type I (HSN I), and none in genetically confirmed cases. We report the neuropathological findings in a 93-year-old woman with a disease of unusually late onset, who was part of a large HSN I kindred and in whom genetic analysis confirmed an SPTLC1 T399G mutation.

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Year:  2005        PMID： 16271825     DOI： 10.1016/j.clineuro.2005.09.009

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


  5 in total

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Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

2.  Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

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3.  The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.

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Journal:  Neuromolecular Med       Date:  2015-11-16       Impact factor: 3.843

4.  The role of cerebellar genes in pathology of autism and schizophrenia.

Authors:  S Hossein Fatemi; Teri J Reutiman; Timothy D Folsom; Robert W Sidwell
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

5.  Natural history and biomarkers in hereditary sensory neuropathy type 1.

Authors:  Vera Fridman; Anne Louise Oaklander; William S David; Elise A Johnson; Jessica Pan; Peter Novak; Robert H Brown; Florian S Eichler
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  5 in total

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