Title of article
Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings
Author/Authors
Andrea J. Lindahl، نويسنده , , Sam D. Lhatoo، نويسنده , , Malcolm J. Campbell، نويسنده , , Garth Nicholson، نويسنده , , Seth Love، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2005
Pages
4
From page
780
To page
783
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 , pathology , Hereditary sensory neuropathy , Hereditary neuropathy of late-onset , SPTLC1
Journal title
Clinical Neurology and Neurosurgery
Serial Year
2005
Journal title
Clinical Neurology and Neurosurgery
Record number
464360
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