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

AJ Lindahl, SD Lhatoo, MJ Campbell, G Nicholson, S Love

Research output: Contribution to journalArticle (Academic Journal)peer-review

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.
Translated title of the contributionLate-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings
Original languageEnglish
Pages (from-to)780 - 783
Number of pages4
JournalClinical Neurology and Neurosurgery
Volume108 (8)
DOIs
Publication statusPublished - Dec 2006

Bibliographical note

Publisher: Elsevier

Structured keywords

  • Dementia Research Group

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