Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings
AJ Lindahl, SD Lhatoo, MJ Campbell… - Clinical neurology and …, 2006 - Elsevier
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.
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.
