Sleep and temperature rhythms in two sisters with P102L Gerstmann-Straussler-Scheinker (GSS) disease

Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo, 7, 40123 Bologna, Italy. <>
Sleep Medicine (Impact Factor: 3.15). 07/2008; 10(3):374-7. DOI: 10.1016/j.sleep.2008.03.004
Source: PubMed


Sleep disorders are increasingly recognized in the symptomatology of many neurodegenerative diseases. Gerstmann-Sträussler-Scheinker (GSS) disease is a hereditary prion disease featuring cerebellar ataxia, akinetic parkinsonism, pyramidal signs and cognitive decline.
We performed a polysomnographic study (PSG) of sleep and body core temperature (BcT degrees ) in two sisters with GSS.
Our study showed protracted nocturnal awakenings, reduced sleep efficiency and brief daytime naps but also qualitatively preserved slow-wave and REM sleep and substantially normal arousal and periodic limb movements in sleep indices and BcT degrees rhythm.
These findings conflict with those in multiple system atrophy and other prion diseases such as fatal familial insomnia, which enter the differential diagnosis of GSS and are characterized by prominently disrupted sleep-wake and BcT degrees cycles.

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    • "However, legs hyperreflexia from an early disease course has recently been seen in a Japanese GSS patient carrying the P102L mutation [54]. In GSS, altered sleep and temperature rhythms may also be noticed [55]. The PRNP polymorphism M129V has been shown to influence the disease phenotype. "
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