Sleep in Gerstmann-Straüssler-Scheinker disease

Sleep Med. 2023 Aug:108:11-15. doi: 10.1016/j.sleep.2023.05.010. Epub 2023 May 22.


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 18F-FDG-PET.

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.

Keywords: Gerstmann-sträussler-scheinker; Prion disease; Sleep; Video-polysomnography.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain
  • Gerstmann-Straussler-Scheinker Disease* / pathology
  • Humans
  • Insomnia, Fatal Familial*
  • Sleep
  • Sleep Apnea Syndromes* / pathology
  • Sleep Apnea, Obstructive* / pathology