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Fatal familial insomnia: Clinical features and early identification
Author(s) -
Krasnianski Anna,
Bartl Mario,
Sanchez Juan Pascual J.,
Heinemann Uta,
Meissner Bettina,
Varges Daniela,
SchulzeSturm Ulf,
Kretzschmar Haus A.,
SchulzSchaeffer Walter J.,
Zerr Inga
Publication year - 2008
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/ana.21358
Subject(s) - fatal familial insomnia , polysomnography , medicine , insomnia , magnetic resonance imaging , positron emission tomography , electroencephalography , disease , pediatrics , cerebrospinal fluid , neurology , radiology , psychiatry , prion protein
Our aim was to develop a detailed clinical description of fatal familial insomnia in a large patient group with respect to the M129V genotype. Data on 41 German fatal familial insomnia patients were analyzed. Clinical features, 14‐3‐3 proteins in the cerebrospinal fluid, magnetic resonance imaging, positron emission tomography, single‐photon emission computed tomography, polysomnography, and electroencephalography were studied. Age at disease onset, disease duration, and clinical syndrome varied depending on the codon 129 genotype. Because the sensitivity of the most diagnostic tests is low in fatal familial insomnia, detailed clinical investigation is extremely important. Polysomnography may help to support the diagnosis. Ann Neurol 2008