Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation

Autopsy findings

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

*Corresponding author for this work

Research output: Contribution to journalArticle

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)780-783
Number of pages4
JournalClinical Neurology and Neurosurgery
Volume108
Issue number8
DOIs
Publication statusPublished - Dec 2006
Externally publishedYes

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Keywords

  • Genetics
  • Hereditary neuropathy of late-onset
  • Hereditary sensory neuropathy
  • Pathology
  • SPTLC1

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