SPTLC1 突变所致迟发性遗传性感觉神经病 I 型：尸检结果

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

作者信息

Lindahl Andrea J, Lhatoo Sam D, Campbell Malcolm J, Nicholson Garth, Love Seth

机构信息

Department of Neurology, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol BS16 1LE, UK.

出版信息

Clin Neurol Neurosurg. 2006 Dec;108(8):780-3. doi: 10.1016/j.clineuro.2005.09.009. Epub 2005 Nov 4.

DOI:10.1016/j.clineuro.2005.09.009

PMID:16271825

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.

摘要

关于遗传性感觉神经病I型（HSN I）尸检结果的公开信息很少，而在基因确诊的病例中则没有相关信息。我们报告了一名93岁女性的神经病理学发现，该患者发病异常晚，是一个大型HSN I家族的成员，基因分析证实其存在SPTLC1 T399G突变。