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

doi:10.1016/j.clineuro.2005.09.009

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 journal › Article › peer-review

11 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 language	English
Pages (from-to)	780-783
Number of pages	4
Journal	Clinical Neurology and Neurosurgery
Volume	108
Issue number	8
DOIs	https://doi.org/10.1016/j.clineuro.2005.09.009
Publication status	Published - Dec 2006
Externally published	Yes

Keywords

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

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10.1016/j.clineuro.2005.09.009

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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.",

keywords = "Genetics, Hereditary neuropathy of late-onset, Hereditary sensory neuropathy, Pathology, SPTLC1",

author = "Lindahl, {Andrea J.} and Lhatoo, {Sam D.} and Campbell, {Malcolm J.} and Garth Nicholson and Seth Love",

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T2 - Autopsy findings

AU - Lindahl, Andrea J.

AU - Lhatoo, Sam D.

AU - Campbell, Malcolm J.

AU - Nicholson, Garth

AU - Love, Seth

PY - 2006/12

Y1 - 2006/12

N2 - 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.

AB - 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.

KW - Genetics

KW - Hereditary neuropathy of late-onset

KW - Hereditary sensory neuropathy

KW - Pathology

KW - SPTLC1

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DO - 10.1016/j.clineuro.2005.09.009

M3 - Article

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AN - SCOPUS:33750719619

SN - 0303-8467

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SP - 780

EP - 783

JO - Clinical Neurology and Neurosurgery

JF - Clinical Neurology and Neurosurgery

IS - 8

ER -

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

Abstract

Keywords

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