Sporadic fatal insomnia: A case study

被引：0
|
作者：
Scaravilli, F
Cordery, RJ
Kretzschmar, H
Gambetti, P
Brink, B
Fritz, V
Temlett, J
Kaplan, C
Fish, D
An, SF
Schulz-Schaeffer, WJ
Rossor, MN
机构：
[1] UCL, Inst Neurol, Dept Neuropathol, London WC1N 3BG, England
[2] UCL, Inst Neurol, Dept Neurol, London WC1N 3BG, England
[3] Univ Guttingen, Inst Neuropathol, Gottingen, Germany
[4] Case Western Reserve Univ, Inst Pathol, Div Neuropathol, Cleveland, OH 44106 USA
[5] Univ Witwatersrand, Sch Med, Dept Med, Neurol Unit, Johannesburg, South Africa
来源：
ANNALS OF NEUROLOGY | 2000年 / 48卷 / 04期
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中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A 58-year-old man died after a 27-month illness characterized by insomnia, confirmed by polysomnography. He was homozygous for methionine at codon 129 of the prion gene but had no mutation in the prion gene. Neuropathology showed thalamic and olivary atrophy and no spongiform changes. Paraffin-embedded tissue blotting demonstrated abnormal prion protein in the brain. This is the first case of the sporadic form of fatal familial insomnia with demonstration of the disorder by polysomnography.
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页码：665 / 668
页数：4
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