C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.

Autor:	Daoud H; 1Montreal Neurological Institute,Montreal,Quebec,Canada., Postuma RB; 2Department of Neurology,Montreal General Hospital,McGill University,Montreal,Quebec,Canada., Bourassa CV; 1Montreal Neurological Institute,Montreal,Quebec,Canada., Rochefort D; 1Montreal Neurological Institute,Montreal,Quebec,Canada., Gauthier MT; 1Montreal Neurological Institute,Montreal,Quebec,Canada., Montplaisir J; 3Centre d'Études Avancées en Médecine du Sommeil,Hôpital du Sacré-Cœur de Montréal,Université de Montréal,Montreal,Quebec,Canada., Gagnon JF; 2Department of Neurology,Montreal General Hospital,McGill University,Montreal,Quebec,Canada., Arnulf I; 6Service des pathologies du sommeil,Hôpital Pitié-Salpêtrière,APHP and INSERM U975-CRICM-Pierre and Marie Curie University,Paris,France., Dauvilliers Y; 7Department of Neurology,Hôpital Gui de Chauliac,INSERM U1061,Montpellier,France., Charley CM; 8PRES Nord de France,IFR 114,IMPRT,Neurophysiologie Clinique,Centre Hospitalier Régional Universitaire de Lille,France., Inoue Y; 9Japan Somnology Center,Neuropsychiatric Research Institute,Tokyo Medical University,Tokyo,Japan., Sasai T; 9Japan Somnology Center,Neuropsychiatric Research Institute,Tokyo Medical University,Tokyo,Japan., Högl B; 10Department of Neurology,Innsbruck Medical University,Innsbruck,Austria., Desautels A; 2Department of Neurology,Montreal General Hospital,McGill University,Montreal,Quebec,Canada., Frauscher B; 10Department of Neurology,Innsbruck Medical University,Innsbruck,Austria., Cochen De Cock V; 3Centre d'Études Avancées en Médecine du Sommeil,Hôpital du Sacré-Cœur de Montréal,Université de Montréal,Montreal,Quebec,Canada., Rouleau GA; 1Montreal Neurological Institute,Montreal,Quebec,Canada., Dion PA; 1Montreal Neurological Institute,Montreal,Quebec,Canada.
Jazyk:	angličtina
Zdroj:	The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2014 Nov; Vol. 41 (6), pp. 759-62. Date of Electronic Publication: 2014 Nov 04.
DOI:	10.1017/cjn.2014.39
Abstrakt:	Background: A large hexanucleotide repeat expansion in C9orf72 has been identified as the most common genetic cause in familial amyotrophic lateral sclerosis and frontotemporal dementia. Rapid Eye Movement Sleep Behavior Disorder (RBD) is a sleep disorder that has been strongly linked to synuclein-mediated neurodegeneration. The aim of this study was to evaluate the role of the C9orf72 expansions in the pathogenesis of RBD. Methods: We amplified the C9orf72 repeat expansion in 344 patients with RBD by a repeat-primed polymerase chain reaction assay. Results: We identified two RBD patients carrying the C9orf72 repeat expansion. Most interestingly, these patients have the same C9orf72 associated-risk haplotype identified in 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia families. Conclusions: Our study enlarges the phenotypic spectrum associated with the C9orf72 hexanucleotide repeat expansions and suggests that, although rare, this expansion may play a role in the pathogenesis of RBD.
Databáze:	MEDLINE
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