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.
authors: National TSE Surveillance Reference Center, Department of Neurology, Georg-August University, Göttingen, Germany.
authors: Anna
authors: A
authors: Krasnianski
authors: Mario
authors: M
authors: Bartl
authors: Pascual J
authors: PJ
authors: Sanchez Juan
authors: Uta
authors: U
authors: Heinemann
authors: Bettina
authors: B
authors: Meissner
authors: Daniela
authors: D
authors: Varges
authors: Ulf
authors: U
authors: Schulze-Sturm
authors: Haus A
authors: HA
authors: Kretzschmar
authors: Walter J
authors: WJ
authors: Schulz-Schaeffer
authors: Inga
authors: I
authors: Zerr
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid*; D000328:Adult; D000368:Aged; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011328:Prions / Q000235:genetics*; D011379:Prognosis
chemical_list: D048948:14-3-3 Proteins; D011328:Prions