C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

Hussein Daoud; Ronald B. Postuma; Cynthia V. Bourassa; Daniel Rochefort; Maude Turcotte Gauthier; Jacques Montplaisir; Jean Francois Gagnon; Isabelle Arnulf; Yves Dauvilliers; Christelle Monaca Charley; Yuichi Inoue; Taeko Sasai; Birgit Högl; Alex Desautels; Birgit Frauscher; Valérie Cochen De Cock; Guy A. Rouleau; Patrick A. Dion

doi:10.1017/cjn.2014.39

C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

Hussein Daoud, Ronald B. Postuma, Cynthia V. Bourassa, Daniel Rochefort, Maude Turcotte Gauthier, Jacques Montplaisir, Jean Francois Gagnon, Isabelle Arnulf, Yves Dauvilliers, Christelle Monaca Charley, Yuichi Inoue, Taeko Sasai, Birgit Högl, Alex Desautels, Birgit Frauscher, Valérie Cochen De Cock, Guy A. Rouleau, Patrick A. Dion

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	759-762
Number of pages	4
Journal	Canadian Journal of Neurological Sciences
Volume	41
Issue number	6
DOIs	https://doi.org/10.1017/cjn.2014.39
State	Published - 4 Nov 2014
Externally published	Yes

Keywords

C9orf72
RBD
repeat expansion
synucleinopathies

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10.1017/cjn.2014.39

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Daoud, H., Postuma, R. B., Bourassa, C. V., Rochefort, D., Gauthier, M. T., Montplaisir, J., Gagnon, J. F., Arnulf, I., Dauvilliers, Y., Charley, C. M., Inoue, Y., Sasai, T., Högl, B., Desautels, A., Frauscher, B., Cochen De Cock, V., Rouleau, G. A., & Dion, P. A. (2014). C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder. Canadian Journal of Neurological Sciences, 41(6), 759-762. https://doi.org/10.1017/cjn.2014.39

@article{3c0dd0d9793740bea228b7f077cfbc4c,

title = "C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder",

abstract = "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.",

keywords = "C9orf72, RBD, repeat expansion, synucleinopathies",

author = "Hussein Daoud and Postuma, {Ronald B.} and Bourassa, {Cynthia V.} and Daniel Rochefort and Gauthier, {Maude Turcotte} and Jacques Montplaisir and Gagnon, {Jean Francois} and Isabelle Arnulf and Yves Dauvilliers and Charley, {Christelle Monaca} and Yuichi Inoue and Taeko Sasai and Birgit H{\"o}gl and Alex Desautels and Birgit Frauscher and {Cochen De Cock}, Val{\'e}rie and Rouleau, {Guy A.} and Dion, {Patrick A.}",

note = "Publisher Copyright: {\textcopyright} 2014 The Canadian Journal of Neurological Sciences Inc.",

year = "2014",

month = nov,

day = "4",

doi = "10.1017/cjn.2014.39",

language = "英語",

volume = "41",

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journal = "Canadian Journal of Neurological Sciences",

issn = "0317-1671",

publisher = "Cambridge University Press",

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Daoud, H, Postuma, RB, Bourassa, CV, Rochefort, D, Gauthier, MT, Montplaisir, J, Gagnon, JF, Arnulf, I, Dauvilliers, Y, Charley, CM, Inoue, Y, Sasai, T, Högl, B, Desautels, A, Frauscher, B, Cochen De Cock, V, Rouleau, GA & Dion, PA 2014, 'C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder', Canadian Journal of Neurological Sciences, vol. 41, no. 6, pp. 759-762. https://doi.org/10.1017/cjn.2014.39

TY - JOUR

T1 - C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

AU - Daoud, Hussein

AU - Postuma, Ronald B.

AU - Bourassa, Cynthia V.

AU - Rochefort, Daniel

AU - Gauthier, Maude Turcotte

AU - Montplaisir, Jacques

AU - Gagnon, Jean Francois

AU - Arnulf, Isabelle

AU - Dauvilliers, Yves

AU - Charley, Christelle Monaca

AU - Inoue, Yuichi

AU - Sasai, Taeko

AU - Högl, Birgit

AU - Desautels, Alex

AU - Frauscher, Birgit

AU - Cochen De Cock, Valérie

AU - Rouleau, Guy A.

AU - Dion, Patrick A.

PY - 2014/11/4

Y1 - 2014/11/4

N2 - 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.

AB - 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.

KW - C9orf72

KW - RBD

KW - repeat expansion

KW - synucleinopathies

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U2 - 10.1017/cjn.2014.39

DO - 10.1017/cjn.2014.39

M3 - 記事

C2 - 25377888

AN - SCOPUS:84944063832

SN - 0317-1671

VL - 41

SP - 759

EP - 762

JO - Canadian Journal of Neurological Sciences

JF - Canadian Journal of Neurological Sciences

IS - 6

ER -

C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder

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