REM sleep behavior disorder in Brunner syndrome

• Published in: Journal of clinical sleep medicine Vol. 20; no. 9; p. 1557
• Main Authors: Cesari, Eduard, Muñoz-Lopetegi, Amaia, Santamaria, Joan, Iranzo, Alex, Gaig, Carles
• Format: Journal Article
• Language: English
• Published: United States 01-09-2024
• Subjects: Genetic Diseases, X-Linked - complications; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - physiopathology; Humans; Intellectual Disability - complications; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Male; Middle Aged; Polysomnography; REM Sleep Behavior Disorder - complications; REM Sleep Behavior Disorder - physiopathology; mutation; deficiency; MAOA; genetic disorder; Brunner syndrome; monoamine oxidase A; REM sleep behavior disorder
• ISSN: 1550-9397
• DOI: 10.5664/jcsm.11230

Brunner syndrome is a recessive X-linked disorder characterized by intellectual disability and impulsive aggressiveness associated with monoamine oxidase A (MAOA) deficiency leading to increased monoaminergic activity. We report the presence of rapid eye movement (REM) sleep behavior disorder in a 46-year-old patient with Brunner syndrome due to a c.1438A > G/iVS14-2 A > G mutation of the
gene. He has mild intellectual disability and psychotic disturbances. He presented a 15-year history of nightmares (chase, attacks, and fights), sleep-related vocalizations, and motor behaviors characterized by talking, screaming, crying, gesturing, punching, and kicking. Video polysomnography showed REM sleep behavior disorder characterized by excessive tonic and phasic muscle activity in the mentalis and limb muscles with dream-enacting behaviors during REM sleep. Clonazepam achieved a significant reduction of REM sleep behavior disorder symptomatology. We conclude that REM sleep behavior disorder can be a manifestation of Brunner syndrome, probably due to an increased monoaminergic neurotransmission occurring in this rare genetic disorder.
Cesari E, Muñoz-Lopetegi A, Santamaria J, Iranzo A, Gaig C. REM sleep behavior disorder in Brunner syndrome.
2024;20(9):1557-1560.