Video-Clinical CornersFamilial idiopathic rapid eye movement sleep behavior disorder
Introduction
Idiopathic rapid eye movement sleep behavior disorder (iRBD) often heralds Parkinson’s disease, dementia with Lewy bodies, and multiple system atrophy [1]. Environmental and lifestyle factors (smoking, head injury, pesticide exposure, and farming) are potential risk factors for iRBD [2], whereas genetic contribution is suggested by increased history of dream enactment in first-degree relatives [3], and by higher GBA (the gene encoding for the enzyme glucocerebrosidase) mutations frequency in patients with iRBD [4]. However, no multiplex family with several cases of polysomnography-proven iRBD has been yet published.
Section snippets
Cases
A 76-year-old woman was referred from the French West Indies for abnormal behaviors during sleep for five years. She had a hypertension and type 2 diabetes mellitus. Her husband reported that she was talking, singing, and occasionally kicking or punching him during the night, without any recollection of these behaviors or associated dreams. She had no complaints of motor or cognitive problems but reported hyposmia. Neurological examination and brain magnetic resonance imaging (MRI) were normal.
Discussion
This is, to the best of our knowledge, the first multiplex family with polysomnography-proven iRBD. The two patients were second-degree kindred (aunt and nephew), and not first-degree kindred, as found in a recent multicenter questionnaire-based study [3]. In 12 different centers from Europe, North America, and Japan, 312 patients with polysomnography-proven iRBD reported that 13.8% of their family-members (vs 4.8% in 315 controls) had a history of dream enactment. The odds ratios were
Conflict of interest
None.
The ICMJE Uniform Disclosure Form for Potential Conflicts of Interest associated with this article can be viewed by clicking on the following link: http://dx.doi.org/10.1016/j.sleep.2016.04.015.
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Cited by (5)
Clinical and genetical study of a familial form of REM sleep behavior disorder
2018, Clinical Neurology and NeurosurgeryCitation Excerpt :Although most parasomnias have a familial predisposition, RBD is considered a sporadic condition. Even though there are some reports of the association of RBD to some candidate genes [4,5], familial cases have not been reported so far, with the exception of a relative pair with RBD recently reported [6]. Genetic contribution to RBD is likely since epidemiological studies have reported an increase family history of RBD in a cohort of RBD cases [7].
Idiopathic REM sleep behavior disorder and neurodegenerative risk: To tell or not to tell to the patient? How to minimize the risk?
2017, Sleep Medicine ReviewsCitation Excerpt :Patients with iRBD were more likely to report a family history of dream-enactment behavior, even without reported family history of PD or dementia (unlike PD) [67]. A multiplex iRBD family was recently identified [69]. The 4-times higher association of possible RBD in the same family (even if determined by proxy in iRBD patients [67]) prompted the IRBDSG to collect DNA and perform genome-wide analysis in iRBD patients and patients with PD plus RBD.
A case–control–family study of idiopathic rapid eye movement sleep behavior disorder
2019, Annals of NeurologyIdiopathic REM sleep behaviour disorder and neurodegeneration - An update
2018, Nature Reviews Neurology