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

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

doi:10.1016/j.clineuro.2005.09.009

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

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

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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 contribution	Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings
Original language	English
Pages (from-to)	780 - 783
Number of pages	4
Journal	Clinical Neurology and Neurosurgery
Volume	108 (8)
DOIs	https://doi.org/10.1016/j.clineuro.2005.09.009
Publication status	Published - Dec 2006

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Publisher: Elsevier

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10.1016/j.clineuro.2005.09.009

http://dx.doi.org/10.1016/j.clineuro.2005.09.009

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@article{5cb88e80d0f34edb879449e3dd52acd3,

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.",

author = "AJ Lindahl and SD Lhatoo and MJ Campbell and G Nicholson and S Love",

note = "Publisher: Elsevier",

year = "2006",

month = dec,

doi = "10.1016/j.clineuro.2005.09.009",

language = "English",

volume = "108 (8)",

pages = "780 -- 783",

journal = "Clinical Neurology and Neurosurgery",

issn = "0303-8467",

publisher = "Amsterdam:Elsevier",

}

TY - JOUR

T1 - Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings

AU - Lindahl, AJ

AU - Lhatoo, SD

AU - Campbell, MJ

AU - Nicholson, G

AU - Love, S

N1 - Publisher: Elsevier

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.

U2 - 10.1016/j.clineuro.2005.09.009

DO - 10.1016/j.clineuro.2005.09.009

M3 - Article (Academic Journal)

VL - 108 (8)

SP - 780

EP - 783

JO - Clinical Neurology and Neurosurgery

JF - Clinical Neurology and Neurosurgery

SN - 0303-8467

ER -

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

Abstract

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