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Sporadic fatal insomnia: A case study
Author(s) -
Scaravilli Francesco,
Cordery Rebecca J.,
Kretzschmar Hans,
Gambetti Pierluigi,
Brink Brian,
Fritz Vivian,
Temlett James,
Kaplan Charles,
Fish David,
An Shu F.,
SchulzSchaeffer Walter J.,
Rossor Martin N.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200010)48:4<665::aid-ana15>3.0.co;2-d
Subject(s) - fatal familial insomnia , neuropathology , polysomnography , prnp , medicine , atrophy , insomnia , prion protein , pathology , psychiatry , disease , electroencephalography
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. Ann Neurol 2000;48:665–668