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December 28, 2004; 63 (12) Brief Communications

Dissociation in circadian rhythms in a pseudohypersomnia form of fatal familial insomnia

Y. Dauvilliers, K. Cervena, B. Carlander, F. Espa, C. Bassetti, B. Claustrat, J. L. Laplanche, M. Billiard, J. Touchon
First published December 28, 2004, DOI: https://doi.org/10.1212/01.WNL.0000147337.07987.EC
Y. Dauvilliers
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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K. Cervena
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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B. Carlander
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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F. Espa
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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C. Bassetti
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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B. Claustrat
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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J. L. Laplanche
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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M. Billiard
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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J. Touchon
From the Service de Neurologie B (Drs. Dauvilliers, Cervena, Carlander, Billiard, and Touchon, F. Espa), Gui-de-Chauliac Hospital, Montpellier, France; INSERM E0361 Hospital la Colombière (Drs. Dauvilliers and Touchon), Montpellier, France; Neurology Department (Dr. Bassetti), University Hospital Zurich, Switzerland; Radioanalysis Unit (Dr. Claustrat), Neuro-Cardiological Hospital, Lyon, France; and Service of Biochemistry and Molecular Biology (Dr. Laplanche), Lariboisière Hospital, Paris, France.
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Full PDF
Citation
Dissociation in circadian rhythms in a pseudohypersomnia form of fatal familial insomnia
Y. Dauvilliers, K. Cervena, B. Carlander, F. Espa, C. Bassetti, B. Claustrat, J. L. Laplanche, M. Billiard, J. Touchon
Neurology Dec 2004, 63 (12) 2416-2418; DOI: 10.1212/01.WNL.0000147337.07987.EC

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Abstract

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.

  • Received February 5, 2004.
  • Accepted in final form July 26, 2004.
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