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Fatal familial insomnia: Clinical features and early identification


Krasnianski, A; Bartl, M; Sanchez Juan, P J; Heinemann, U; Meissner, B; Varges, D; Schulze-Sturm, U; Kretzschmar, H A; Schulz-Schaeffer, W J; Zerr, I (2008). Fatal familial insomnia: Clinical features and early identification. Annals of Neurology, 63(5):658-661.

Abstract

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.

Abstract

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.

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27 citations in Web of Science®
35 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute for Regenerative Medicine (IREM)
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2008
Deposited On:09 Apr 2009 12:34
Last Modified:16 Aug 2016 10:13
Publisher:Wiley-Blackwell
ISSN:0364-5134
Publisher DOI:https://doi.org/10.1002/ana.21358
PubMed ID:18360821

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