title: Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings.
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.
authors.affiliation: Department of Neurology, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol BS16 1LE, UK.
authors.forename: Andrea J
authors.initials: AJ
authors.lastname: Lindahl
authors.forename: Sam D
authors.initials: SD
authors.lastname: Lhatoo
authors.forename: Malcolm J
authors.initials: MJ
authors.lastname: Campbell
authors.forename: Garth
authors.initials: G
authors.lastname: Nicholson
authors.forename: Seth
authors.initials: S
authors.lastname: Love
mesh_terms: D000217:Acyltransferases / Q000235:genetics*; D000369:Aged, 80 and over; D005091:Exons; D005260:Female; D005727:Ganglia, Spinal / Q000473:pathology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009410:Nerve Degeneration / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D009460:Neurologic Examination; D009474:Neurons / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology; D051102:Serine C-Palmitoyltransferase; D013116:Spinal Cord / Q000473:pathology
chemical_list: D000217:Acyltransferases; C487784:SPTLC1 protein, human; D051102:Serine C-Palmitoyltransferase