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Genetic aspects of parasomnias

Genetik der Parasomnien

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Zusammenfassung

Parasomnien umfassen eine große Gruppe unterschiedlicher motorischer Phänomene während des Schlafes. Eine genetische Grundlage wird bereits seit vielen Jahren auf Grund von Zwillings- und Kohortenuntersuchungen postuliert. In einigen molekulargenetischen Ansätzen wurde bislang die Assoziation zum HLA-System untersucht. Für Schlafwandeln und die REM-Verhaltensstörung konnte eine Assoziation zum HLA-System gezeigt werden. HLA DQB1*0501 und DQB1*0402 konnten mit Schlafwandeln assoziiert werden. Die REM-Verhaltensstörung zeigte ebenfalls eine Assoziation zum HLA DQB1*0501. Für andere Schlafstörungen, die gemäß ICSD-1 als Parasomnien klassifiziert waren, und mittlerweile keine Parasomnien gemäß ICSD-2 sind, wie Sprechen im Schlaf und Bruxismus konnte in Zwillingen und Familienstudien eine Erblichkeit gezeigt werden, ohne jedoch bislang einzelne Kandidatengene gefunden zu haben. Für die Enuresis nocturnae konnte eindeutig Erblichkeit gezeigt werden. Weder die bislang beschriebenen Loci noch eine Assoziation zum Aquaporin-Gen wurde bislang bestätigt.

Weitere Erkenntnisse zur genetischen Grundlage von Parasomnien, unabhängig ob es sich um komplex genetische Suszeptibilitätseffekte oder monogenetische Ursachen handelt, werden helfen, neue Möglichkeiten der Behandlung zu entwickeln, die auf biologischen Erkenntnissen basieren.

Summary

Parasomnias comprise a great variety of motor phenomena during sleep. A genetic background was postulated many years ago based on twin studies and cohort studies. A few molecular genetic approaches were performed analysing the association to the HLA system. For sleep walking and REM behaviour disorder an association with the HLA system was shown. HLA DQB1*0501 and DQB1*0402 were the loci associated with sleep walking. REM behaviour disorder was also shown to have an association with the HLA DQB1* 0501 locus. Other sleep disorders, which were formerly classified as parasomnias according to ICSD-1 and are not classified any longer as parasomnias according to ICSD-2, include sleep talking and bruxism as shown by twins and family heredity studies. For these sleep disorders further evidence for genetic loci or even single genes are lacking. Nocturnal enuresis showed clear heredity but chromosomal loci or even an association to the aquaporin gene were not verified.

Since there is not enough evidence that parasomnias are either complex genetic or monogenetic work is needed to gather more epidemiological data. Further linkage studies will elucidate the impact of single genes on the clinical expression of parasomnias. The identification of genetic susceptibility genes or single disease-causing genes will help in the development of novel biologically based treatment options.

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  1. Dept. of Neurology, University of Muenster, Albert-Schweitzer-Straße 33, 48129, Münster, Germany

    Peter Young

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Young, P. Genetic aspects of parasomnias. Somnologie 12, 7–13 (2008). https://doi.org/10.1007/s11818-008-0334-z

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