Sleep in Gerstmann-Straüssler-Scheinker disease.


Journal

Sleep medicine
ISSN: 1878-5506
Titre abrégé: Sleep Med
Pays: Netherlands
ID NLM: 100898759

Informations de publication

Date de publication:
08 2023
Historique:
received: 26 02 2023
revised: 05 05 2023
accepted: 12 05 2023
medline: 4 7 2023
pubmed: 11 6 2023
entrez: 11 6 2023
Statut: ppublish

Résumé

Gerstmann-Sträussler-Scheinker (GSS) is a rare prion disease with heterogeneous clinical presentation. Although sleep-related abnormalities are prominent and well-known in other prion diseases such as fatal familial insomnia and Creutzfeldt-Jakob disease, information on sleep is limited in GSS. We evaluated sleep in three genetically confirmed GSS cases using clinical history, sleep scales and video-polysomnography. In addition, patients underwent neurological assessment, neurological scales, neuropsychological testing, lumbar puncture, brain MRI and brain Two patients reported sleep maintenance insomnia attributed to leg stiffness and back pain while the remaining patient did not report sleep problems. Video-polysomnography showed normal sleep staging in all of them. Findings such as reduced sleep efficiency in two patients, a confusional arousal in one patient, obstructive apneas in one patient, and periodic legs movements in sleep in two patients were observed. In contrast to fatal familial insomnia, the normal sleep staging in GSS may suggest dissimilar involvement of the neuronal structures that regulate sleep. We found non-specific sleep alterations in GSS such as obstructive apneas and periodic leg movements in sleep which are of unknown origin and of uncertain clinical relevance. Studies including a larger number of patients, serial sleep evaluations and incorporating neuropathological assessment will further help to understand sleep in GSS.

Sections du résumé

BACKGROUND
Gerstmann-Sträussler-Scheinker (GSS) is a rare prion disease with heterogeneous clinical presentation. Although sleep-related abnormalities are prominent and well-known in other prion diseases such as fatal familial insomnia and Creutzfeldt-Jakob disease, information on sleep is limited in GSS.
METHODS
We evaluated sleep in three genetically confirmed GSS cases using clinical history, sleep scales and video-polysomnography. In addition, patients underwent neurological assessment, neurological scales, neuropsychological testing, lumbar puncture, brain MRI and brain
RESULTS
Two patients reported sleep maintenance insomnia attributed to leg stiffness and back pain while the remaining patient did not report sleep problems. Video-polysomnography showed normal sleep staging in all of them. Findings such as reduced sleep efficiency in two patients, a confusional arousal in one patient, obstructive apneas in one patient, and periodic legs movements in sleep in two patients were observed.
CONCLUSIONS
In contrast to fatal familial insomnia, the normal sleep staging in GSS may suggest dissimilar involvement of the neuronal structures that regulate sleep. We found non-specific sleep alterations in GSS such as obstructive apneas and periodic leg movements in sleep which are of unknown origin and of uncertain clinical relevance. Studies including a larger number of patients, serial sleep evaluations and incorporating neuropathological assessment will further help to understand sleep in GSS.

Identifiants

pubmed: 37302168
pii: S1389-9457(23)00179-X
doi: 10.1016/j.sleep.2023.05.010
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

11-15

Informations de copyright

Copyright © 2023 Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest None.

Auteurs

Laura Pérez-Carbonell (L)

Sleep Disorders Center, Neurology Service, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, CIBERNED: CB06/05/0018-ISCIII, Barcelona, Spain.

Jordi Sarto (J)

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, Barcelona, Spain.

Carles Gaig (C)

Sleep Disorders Center, Neurology Service, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, CIBERNED: CB06/05/0018-ISCIII, Barcelona, Spain.

Amaia Muñoz-Lopetegi (A)

Sleep Disorders Center, Neurology Service, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, CIBERNED: CB06/05/0018-ISCIII, Barcelona, Spain.

Raquel Ruiz-García (R)

Immunology Department, Centre de Diagnòstic Biomèdic, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, Barcelona, Spain.

Laura Naranjo (L)

Immunology Department, Centre de Diagnòstic Biomèdic, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, Barcelona, Spain.

Josep María Augé (JM)

Immunology Department, Centre de Diagnòstic Biomèdic, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, Barcelona, Spain.

Andrés Perissinotti (A)

Nuclear Medicine Service, Hospital Clínic Barcelona, Biomedical Research Networking Centre of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), ISCIII, Barcelona, Spain.

Joan Santamaria (J)

Sleep Disorders Center, Neurology Service, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, CIBERNED: CB06/05/0018-ISCIII, Barcelona, Spain.

Alex Iranzo (A)

Sleep Disorders Center, Neurology Service, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, CIBERNED: CB06/05/0018-ISCIII, Barcelona, Spain. Electronic address: airanzo@clinic.cat.

Raquel Sánchez-Valle (R)

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic Barcelona, Universitat de Barcelona, IDIBAPS, Barcelona, Spain. Electronic address: rsanchez@clinic.cat.

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Classifications MeSH