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


METHODS
We performed a polysomnographic study (PSG) of sleep and body core temperature (BcT degrees ) in two sisters with GSS.


RESULTS
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.


CONCLUSIONS
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.
Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo, 7, 40123 Bologna, Italy. federica.provini@unibo.it <federica.provini@unibo.it>
Federica
F
Provini
Roberto
R
Vetrugno
Giulia
G
Pierangeli
Pietro
P
Cortelli
Giovanni
G
Rizzo
Alessandro
A
Filla
Caterina
C
Strisciuglio
Roberto
R
Gallassi
Pasquale
P
Montagna
D000328:Adult; D001831:Body Temperature; D002940:Circadian Rhythm; D003937:Diagnosis, Differential; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D017354:Point Mutation; D017286:Polysomnography; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics; D012890:Sleep; D012895:Sleep, REM
C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions