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Fatal familial insomnia

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Fatal familial insomnia : Clinical features and early identification. / Krasnianski, Anna; Bartl, Mario; Sanchez Juan, Pascual J; Heinemann, Uta; Meissner, Bettina; Varges, Daniela; Schulze-Sturm, Ulf; Kretzschmar, Haus A; Schulz-Schaeffer, Walter J; Zerr, Inga.

In: ANN NEUROL, Vol. 63, No. 5, 05.2008, p. 658-61.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Krasnianski, A, Bartl, M, Sanchez Juan, PJ, Heinemann, U, Meissner, B, Varges, D, Schulze-Sturm, U, Kretzschmar, HA, Schulz-Schaeffer, WJ & Zerr, I 2008, 'Fatal familial insomnia: Clinical features and early identification', ANN NEUROL, vol. 63, no. 5, pp. 658-61. https://doi.org/10.1002/ana.21358

APA

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. ANN NEUROL, 63(5), 658-61. https://doi.org/10.1002/ana.21358

Vancouver

Krasnianski A, Bartl M, Sanchez Juan PJ, Heinemann U, Meissner B, Varges D et al. Fatal familial insomnia: Clinical features and early identification. ANN NEUROL. 2008 May;63(5):658-61. https://doi.org/10.1002/ana.21358

Bibtex

@article{228eb3aecb4d4909b21ecc427a92f40c,
title = "Fatal familial insomnia: Clinical features and early identification",
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.",
keywords = "14-3-3 Proteins/cerebrospinal fluid, Adult, Aged, Female, Genetic Predisposition to Disease/genetics, Humans, Insomnia, Fatal Familial/diagnosis, Male, Middle Aged, Prions/genetics, Prognosis",
author = "Anna Krasnianski and Mario Bartl and {Sanchez Juan}, {Pascual J} and Uta Heinemann and Bettina Meissner and Daniela Varges and Ulf Schulze-Sturm and Kretzschmar, {Haus A} and Schulz-Schaeffer, {Walter J} and Inga Zerr",
year = "2008",
month = may,
doi = "10.1002/ana.21358",
language = "English",
volume = "63",
pages = "658--61",
journal = "ANN NEUROL",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Fatal familial insomnia

T2 - Clinical features and early identification

AU - Krasnianski, Anna

AU - Bartl, Mario

AU - Sanchez Juan, Pascual J

AU - Heinemann, Uta

AU - Meissner, Bettina

AU - Varges, Daniela

AU - Schulze-Sturm, Ulf

AU - Kretzschmar, Haus A

AU - Schulz-Schaeffer, Walter J

AU - Zerr, Inga

PY - 2008/5

Y1 - 2008/5

N2 - 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.

AB - 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.

KW - 14-3-3 Proteins/cerebrospinal fluid

KW - Adult

KW - Aged

KW - Female

KW - Genetic Predisposition to Disease/genetics

KW - Humans

KW - Insomnia, Fatal Familial/diagnosis

KW - Male

KW - Middle Aged

KW - Prions/genetics

KW - Prognosis

U2 - 10.1002/ana.21358

DO - 10.1002/ana.21358

M3 - SCORING: Journal article

C2 - 18360821

VL - 63

SP - 658

EP - 661

JO - ANN NEUROL

JF - ANN NEUROL

SN - 0364-5134

IS - 5

ER -