Family history of idiopathic REM behavior disorder

Abstract

Objective: To compare the frequency of proxy-reported REM sleep behavior disorder (RBD) among relatives of patients with polysomnogram-diagnosed idiopathic RBD (iRBD) in comparison to controls using a large multicenter clinic-based cohort.Methods: A total of 316 patients with polysomnography-confirmed iRBD were recruited from 12 RBD study group centers, along with 316 controls matched on sex and age group. All subjects completed a self-administered questionnaire that collected proxy-reported information on family history of tremor, gait trouble, balance trouble, Parkinson disease, memory loss, and Alzheimer disease. The questionnaire also included a single question that asked about possible symptoms of RBD among first-degree relatives (siblings, parents, and children).Results: A positive family history of dream enactment was reported in 13.8% of iRBD cases compared to 4.8% of controls (odds ratio [OR] 5 3.9, 95% confidence interval [CI] 2.0-7.7). ORs were increased for both siblings (OR 5 6.1, 95% CI 2.1-18.1) and parents (OR 5 3.2, 95% CI 1.4-7.8). We found no significant difference in sex, current age (65.3 6 10.2 vs 66.9 6 10.2 years), or age at self-reported RBD onset (55.2 6 11.7 vs 56.6 6 15.1 years) in possible familial vs sporadic iRBD. No differences were found in family history of tremor, walking and balance troubles, Parkinson disease, memory loss, or Alzheimer disease. Conclusion:We found increased odds of proxy-reported family history of presumed RBD among individuals with confirmed iRBD. This suggests the possibility of a genetic contribution to RBD. Neurology REM sleep behavior disorder (RBD) is characterized by abnormal behaviors associated with dream mentation and loss of REM sleep atonia.1 Most patients with idiopathic RBD (iRBD) eventually develop a neurodegenerative disorder such as Parkinson disease (PD), Lewy body dementia, and multiple system atrophy. 2 Although RBD has been reported in familial neurodegenerative conditions such as parkinsonism related to parkin and DJ-1 mutations, spinocerebellar ataxia type III, and amyotrophic lateral sclerosis due to SOD1 mutations, 3 iRBD is generally considered to be a sporadic condition. One isolated genetic study performed on 25 patients with RBD reported an association with human leukocyte antigen DQw1. 4 However, no studies have systematically assessed possible heritability. Therefore, we compared the frequency of proxy-reported RBD among relatives of patients with iRBD and controls, using a large multicenter clinic-based cohort.

Sleep-related movement disorders and disturbances of motor control

“…In these cases video-polysomnography/telemetry is necessary. [84,95,96], and for RBD [97,98] including the susceptibility of individuals with RBD to develop synucleinopathies [99,100] (although negative for APOE e4 allele [101]). More recent studies reported an association of PLMS [102] and of sleep paralysis [103] with specific singlenucleotide polymorphisms.…”

Rapid Eye Movement Sleep Behavior Disorder: Overview and Current Perspective

“…The estimated prevalence of RBD in general population is 0.5 % [2,8] but significantly higher in elderly and specific neurodegenerative conditions. An elderly general population study cites PSG-proven RBD at frequency of 2 % while RWSA in absence of clinical dream enactment of 5 % [9].…”

“…RBD is reported in 60 % of narcolepsy cases with a different phenotype, characterized by lack of the male preponderance that is seen in idiopathic RBD [8]. Of note, idiopathic RBD can also occur in young adulthood predating the clinical symptoms of neurodegeneration by decades [18].…”

“…Like Parkinson's disease, many cases of RBD are familial [8]. In addition, RBD is associated with various environmental, social, and behavioral factors.…”

Genetische Aspekte der REM-Schlaf-Verhaltensstörung

“…Odds Ratio) eine iRBD zu entwickeln erhöht ist, wenn in der Elterngeneration eine iRBD besteht. Ebenso besteht ein erhöhtes Risiko für Eltern eine iRBD zu entwickeln, wenn in der Kindergeneration eine iRBD auftritt [14]. Die klinische Ausprägung von einer familiären RBD ist jedoch bezüglich der Altersmanifestation und des Geschlechts nicht zu unterscheiden von nicht-familiären Formen der iRBD.…”