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- Anna Krasnianski, Mario Bartl, Pascual J Sanchez Juan, Uta Heinemann, Bettina Meissner, Daniela Varges, Ulf Schulze-Sturm, Haus A Kretzschmar, Walter J Schulz-Schaeffer, and Inga Zerr.
- National TSE Surveillance Reference Center, Department of Neurology, Georg-August University, Göttingen, Germany.
- Ann. Neurol. 2008 May 1; 63 (5): 658-61.
AbstractOur 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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