Research

Clinical characterization and genetic study of sleepwalking

Sleepwalking can give rise to a wide range of complex nocturnal behaviours and represents one of the leading causes of sleep-related injury. The condition is frequent in children, reaching a peak at 12 years of age, and then rapidly decreases to affect 2-3 % of the adult population. Sleepwalking runs in families. For instance, immediate relatives of sleepwalkers have at least a 10-fold increased likelihood of being affected over that of the general population. However, despite the relatively high frequency of the disease and the fact that sleepwalking clusters in families, the spectrum of clinical manifestations and the mode of inheritance have not been fully investigated and no susceptibility gene has been so far identified.

Hence, the first phase of the proposed project aims at recruiting sleepwalkers and their relatives in order to: 1) study the wide range of clinical manifestations, using namely electrophysiological approaches (such as electric brain activity and sleep markers in the laboratory); and 2) determine how the condition is transmitted within families. These results will be used in a subsequent phase aiming at identifying a predisposing gene involved in the development of the disease. The research program will not only further increase our knowledge on the clinical manifestations of sleepwalking but will also allow us to extensively characterize our patient population, which represents undeniable advantages for the identification of genes. We expect to identify a gene conferring susceptibility to sleepwalking. This would provide additional insight into our comprehension of this intriguing disease and may open a different perspective on the mechanisms involved in sleep processes in addition to lead to the development of new diagnostic tests and treatment strategies.

Team

Lab Members:
	Nicolas Carpentier, M.D. Stagiaire postdoctoral
	Marc-André Gareau, B.Sc. M.Sc. in Neurological Sciences, Université de Montréal Co-direction with Dre Nadia Gosselin Periodic limb movements of sleep: impact on the cerebral microvasculature

Publications

Desautels A, Zadra A, Labelle MA, Dauvilliers Y, Petit D, Montplaisir J. Daytime somnolence in adult sleepwalkers. Sleep Med 2013, 14(11), 1187-1191.

Pilon M, Desautels A, Montplaisir J, Zadra A. Auditory Arousal Responses and Thresholds during REM and NREM Sleep of Sleepwalkers and Controls. Sleep Med, 13(5), 490-495.

Desautels A, Michaud M, Lanfranchi P, Lavigne GJ, Montplaisir J. Periodic limb movements in sleep. Dans: Chokroverty S, Montagna P, Allen RP, Walters AS. Sleep and Movement Disorders, 2e Edition; Chapitre 51.

Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, Winkelmann J, Plazzi G, Nevsimalova S, Hong SC, Honda Y, Honda M, Högl B, Ton TG, Montplaisir J, Bourgin P, Kemlink D, Huang YS, Warby S, Einen M, Eshragh JL, Miyagawa T, Desautels A, Ruppert E, Hesla PE, Poli F, Pizza F, Frauscher B, Jeong JH, Lee SP, Strohl KP, Longstreth WT Jr, Kvale M, Dobrovolna M, Ohayon MM, Nepom GT, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Peppard P, Young T, Jennum P, Steinman L, Tokunaga K, Kwok PY, Risch N, Hallmayer J, Mignot E. Common variants in P2RY11 are associated with narcolepsy. Nat Genet 2011, 43, 66-71.

Dauvilliers Y, Montplaisir J, Cochen V, Desautels A, Einen M, Lin L, Kawashima M, Bayard S, Monaca C, Tiberge M, Filipini D, Tripathy A, Nguyen BH, Kotagal S, Mignot E. Post-H1N1 narcolepsy-cataplexy. Sleep 2010, 33(11), 1428-1430.

Xiong L, Montplaisir J, Desautels A, Barhdadi A, Turecki G, Levchenko A, Thibodeau P, Dubé MP, Gaspar C, Rouleau GA. Family study of restless legs syndrome in Quebec, Canada: clinical characterization of 671 familial cases. Arch Neurol 2010, 67(5), 617-622.

Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Honda Y, Honda M, Högl B, Longstreth WT Jr, Montplaisir J, Kemlink D, Einen M, Chen J, Musone SL, Akana M, Miyagawa T, Duan J, Desautels A, Erhardt C, Hesla PE, Poli F, Frauscher B, Jeong JH, Lee SP, Ton TG, Kvale M, Kolesar L, Dobrovolnà M, Nepom GT, Salomon D, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Young T, Peppard P, Tokunaga K, Kwok PY, Risch N, Mignot E. Narcolepsy is strongly associated with the TCR alpha locus. Nat Genet 2009, 41(6), 708-711.

Levchenko A, Montplaisir JY, Asselin G, Provost S, Girard S, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé MP, Rouleau GA. Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1. Mov Disord 2009, 24(1), 40-50.

Desautels A, Turecki G, Montplaisir J, Xiong L, Walters, AS, Ehrenberg, BL, Brisebois K, Desautels AK, Gingras Y, Johnson WG, Lugaresi E, Coccagna G, Picchietti DL, Lazzarini A, Rouleau GA. Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. Arch Neurol 2005, 62(4), 591-596.

Desautels A, Turecki G, Montplaisir J, Rochefort D, Rouleau GA. Mutational Analysis of Neurotensin in Familial Restless Legs Syndrome. Mov Disord 2004, 19, 90-94.