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 contribution||Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings|
|Pages (from-to)||780 - 783|
|Number of pages||4|
|Journal||Clinical Neurology and Neurosurgery|
|Publication status||Published - Dec 2006|