Abnormal sleep architecture is an early feature in the E46K familial synucleinopathy.
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies. An abnormal restless sleep was the presenting symptom in 2 of them. Polysomnographic (PSG) studies were performed in 4 of the 7 patients and in 2 asymptomatic carriers of the mutation. A severe loss of both rapid eye movement (REM) and non-REM sleep was observed in 2 patients complaining of insomnia and in a third parkinsonian member of the family who did not complain of trouble with sleeping. Another parkinsonian family member had a mild disorganization of the sleep architecture. The 2 asymptomatic carriers also had minor changes in the PSG findings. Episodes of bizarre behavior at night were reported historically in the 2 symptomatic patients, but we did not observed the behaviors during the PSG studies. REM sleep behavior disorder could not be recorded in any case. Our findings expand the spectrum of sleep disorders reported in synucleinopathies whether sporadic or familial.
Zarranz
Juan J
JJ
Neurology Service, Hospital of Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Vizcaya, Spain. jjzarranz@hcru.osakidetza.net
Fernández-Bedoya
Anabel
A
Lambarri
Imanol
I
Gómez-Esteban
Juan C
JC
Lezcano
Elena
E
Zamacona
Javier
J
Madoz
Pedro
P
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004576:Electromyography; D004585:Electrooculography; D005260:Female; D006801:Humans; D020961:Lewy Body Disease / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D017286:Polysomnography; D020187:REM Sleep Behavior Disorder / Q000150:complications* / Q000175:diagnosis*; D012148:Restless Legs Syndrome / Q000150:complications / Q000175:diagnosis; D007319:Sleep Initiation and Maintenance Disorders / Q000150:complications / Q000175:diagnosis; D051844:alpha-Synuclein / Q000235:genetics*
C497604:SNCA protein, human; D051844:alpha-Synuclein