NR ASTF
AU Dauvilliers,Y.; Cervena,K.; Carlander,B.; Espa,F.; Bassetti,C.L.; Claustrat,B.; Laplanche,J.L.; Billiard,M.; Touchon,J.
TI Dissociation in circadian rhythms in a pseudohypersomnia form of fatal familial insomnia
QU Neurology 2004 Dec 28; 63(12): 2416-8
PT case reports; journal article
AB The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confirmed fatal familial insomnia (D178N mutation with heterozygosity at codon 129 of the prion protein gene). The patient exhibited pseudohypersomnia behavior instead of insomnia. There was profound alteration in the sleep-wake cycle with a clear dissociation in the disappearance of circadian and neuroendocrine rhythms, findings unrelated to abnormalities in the hypocretinergic system.
MH Adult; Amyloid/genetics; *Circadian Rhythm; Codon/genetics; Corticotropin/blood; Heterozygote; Humans; Hydrocortisone/blood; Insomnia, Fatal Familial/genetics/metabolism/*physiopathology; Intracellular Signaling Peptides and Proteins/cerebrospinal fluid; Male; Motor Activity; Neuropeptides/cerebrospinal fluid; Norepinephrine/blood; Polysomnography; Protein Precursors/genetics
AD Drs. Dauvilliers (ydauvilliers@yahoo.fr), Cervena, Carlander, Billiard, Touchon, F. Espa, Service de Neurologie B, Gui-de-Chauliac Hospital, 80 avenue Augustin Fliche, Montpellier Cedex 5, France; Drs. Dauvilliers and Touchon, INSERM E0361 Hospital la Colombière, Montpellier, France; Dr. Bassetti, Neurology Department, University Hospital Zürich, Switzerland; Dr. Claustrat, Radioanalysis Unit, Neuro-Cardiological Hospital, Lyon, France; Dr. Laplanche, Service of Biochemistry and Molecular Biology, Lariboisière Hospital, Paris, France
SP englisch
PO USA