Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers

Objective In idiopathic Parkinson disease (IPD) sleep disorders are common and may antedate the onset of parkinsonism. Based on the clinical similarities between IPD and Parkinson disease associated with LRRK2 gene mutations (LRRK2-PD), we aimed to characterize sleep in parkinsonian and nonmanifesti...

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Autores: Pont-Sunyer, Claustre, Iranzo, Alex, Gaig, Carles, Fernandez-Arcos, Ana, Vilas, Dolores, Valldeoriola, Francesc, Compta, Yaroslau, Fernandez-Santiago, Ruben, Fernandez, Manuel, Bayes, Angels, Calopa, Matilde, Casquero Subías, Pilar, de Fabregues-Boixar, Oriol, Jauma, Serge, Puente, Victor, Salamero, Manel, Marti, Maria Jose, Santamaria Semis, Joan, Tolosa, Eduard
Tipo de recurso: artículo
Fecha de publicación:2015
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:docusalut.com:20.500.13003/15663
Acceso en línea:https://hdl.handle.net/20.500.13003/15663
Access Level:acceso abierto
Palabra clave:Electromyography
Humans
Demography
Heterozygote
Middle Aged
Parkinson Disease
Male
Restless Legs Syndrome
Mutation
Sleep Wake Disorders
Polysomnography
REM Sleep Behavior Disorder
Protein-Serine-Threonine Kinases
Adult
Female
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Protein Serine-Threonine Kinases
Polisomnografía
Proteínas Serina-Treonina Quinasas
Trastornos del Sueño-Vigilia
Trastorno de la Conducta del Sueño REM
Femenino
Mutación
Masculino
Electromiografía
Demografía
Humanos
Persona de Mediana Edad
Heterocigoto
Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina
Enfermedad de Parkinson
Síndrome de las Piernas Inquietas
Adulto
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spelling Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation CarriersPont-Sunyer, ClaustreIranzo, AlexGaig, CarlesFernandez-Arcos, AnaVilas, DoloresValldeoriola, FrancescCompta, YaroslauFernandez-Santiago, RubenFernandez, ManuelBayes, AngelsCalopa, MatildeCasquero Subías, Pilarde Fabregues-Boixar, OriolJauma, SergePuente, VictorSalamero, ManelMarti, Maria JoseSantamaria Semis, JoanTolosa, EduardElectromyographyHumansDemographyHeterozygoteMiddle AgedParkinson DiseaseMaleRestless Legs SyndromeMutationSleep Wake DisordersPolysomnographyREM Sleep Behavior DisorderProtein-Serine-Threonine KinasesAdultFemaleLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Protein Serine-Threonine KinasesPolisomnografíaProteínas Serina-Treonina QuinasasTrastornos del Sueño-VigiliaTrastorno de la Conducta del Sueño REMFemeninoMutaciónMasculinoElectromiografíaDemografíaHumanosPersona de Mediana EdadHeterocigotoProteína 2 Quinasa Serina-Treonina Rica en Repeticiones de LeucinaEnfermedad de ParkinsonSíndrome de las Piernas InquietasAdultoObjective In idiopathic Parkinson disease (IPD) sleep disorders are common and may antedate the onset of parkinsonism. Based on the clinical similarities between IPD and Parkinson disease associated with LRRK2 gene mutations (LRRK2-PD), we aimed to characterize sleep in parkinsonian and nonmanifesting LRRK2 mutation carriers (NMC). Methods A comprehensive interview conducted by sleep specialists, validated sleep scales and questionnaires, and video-polysomnography followed by multiple sleep latency test (MSLT) assessed sleep in 18 LRRK2-PD (17 carrying G2019S and one R1441G mutations), 17 NMC (11 G2019S, three R1441G, three R1441C), 14 non-manifesting non-carriers (NMNC) and 19 unrelated IPD. Results Sleep complaints were frequent in LRRK2-PD patients; 78% reported poor sleep quality, 33% sleep onset insomnia, 56% sleep fragmentation and 39% early awakening. Sleep onset insomnia correlated with depressive symptoms and poor sleep quality. In LRRK2-PD, excessive daytime sleepiness (EDS) was a complaint in 33% patients and short sleep latencies on the MSLT, which are indicative of objective EDS, were found in 71%. Sleep attacks occurred in three LRRK2-PD patients and a narcoleptic phenotype was not observed. REM sleep behavior disorder (RBD) was diagnosed in three LRRK2-PD. EDS and RBD were always reported to start after the onset of parkinsonism in LRRK2-PD. In NMC, EDS was rarely reported and RBD was absent. When compared to IPD, sleep onset insomnia was more significantly frequent, EDS was similar, and RBD was less significantly frequent and less severe in LRRK2-PD. In NMC, RBD was not detected and sleep complaints were much less frequent than in LRRK2-PD. No differences were observed in sleep between NMC and NMNC. Conclusions Sleep complaints are frequent in LRRK2-PDand show a pattern that when compared to IPD is characterized by more frequent sleep onset insomnia, similar EDS and less prominent RBD. Unlike in IPD, RBD and EDS seem to be not markers of the prodromal stage of LRRK2-PD.Public Library Science20152015-07-1520152015-07-15research articlehttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.13003/15663reponame:Docusalutinstname:Conselleria de Salut i Consum del Govern de les Illes BalearsInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:docusalut.com:20.500.13003/156632026-06-22T12:44:07Z
dc.title.none.fl_str_mv Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
title Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
spellingShingle Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
Pont-Sunyer, Claustre
Electromyography
Humans
Demography
Heterozygote
Middle Aged
Parkinson Disease
Male
Restless Legs Syndrome
Mutation
Sleep Wake Disorders
Polysomnography
REM Sleep Behavior Disorder
Protein-Serine-Threonine Kinases
Adult
Female
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Protein Serine-Threonine Kinases
Polisomnografía
Proteínas Serina-Treonina Quinasas
Trastornos del Sueño-Vigilia
Trastorno de la Conducta del Sueño REM
Femenino
Mutación
Masculino
Electromiografía
Demografía
Humanos
Persona de Mediana Edad
Heterocigoto
Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina
Enfermedad de Parkinson
Síndrome de las Piernas Inquietas
Adulto
title_short Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
title_full Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
title_fullStr Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
title_full_unstemmed Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
title_sort Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers
dc.creator.none.fl_str_mv Pont-Sunyer, Claustre
Iranzo, Alex
Gaig, Carles
Fernandez-Arcos, Ana
Vilas, Dolores
Valldeoriola, Francesc
Compta, Yaroslau
Fernandez-Santiago, Ruben
Fernandez, Manuel
Bayes, Angels
Calopa, Matilde
Casquero Subías, Pilar
de Fabregues-Boixar, Oriol
Jauma, Serge
Puente, Victor
Salamero, Manel
Marti, Maria Jose
Santamaria Semis, Joan
Tolosa, Eduard
author Pont-Sunyer, Claustre
author_facet Pont-Sunyer, Claustre
Iranzo, Alex
Gaig, Carles
Fernandez-Arcos, Ana
Vilas, Dolores
Valldeoriola, Francesc
Compta, Yaroslau
Fernandez-Santiago, Ruben
Fernandez, Manuel
Bayes, Angels
Calopa, Matilde
Casquero Subías, Pilar
de Fabregues-Boixar, Oriol
Jauma, Serge
Puente, Victor
Salamero, Manel
Marti, Maria Jose
Santamaria Semis, Joan
Tolosa, Eduard
author_role author
author2 Iranzo, Alex
Gaig, Carles
Fernandez-Arcos, Ana
Vilas, Dolores
Valldeoriola, Francesc
Compta, Yaroslau
Fernandez-Santiago, Ruben
Fernandez, Manuel
Bayes, Angels
Calopa, Matilde
Casquero Subías, Pilar
de Fabregues-Boixar, Oriol
Jauma, Serge
Puente, Victor
Salamero, Manel
Marti, Maria Jose
Santamaria Semis, Joan
Tolosa, Eduard
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv Electromyography
Humans
Demography
Heterozygote
Middle Aged
Parkinson Disease
Male
Restless Legs Syndrome
Mutation
Sleep Wake Disorders
Polysomnography
REM Sleep Behavior Disorder
Protein-Serine-Threonine Kinases
Adult
Female
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Protein Serine-Threonine Kinases
Polisomnografía
Proteínas Serina-Treonina Quinasas
Trastornos del Sueño-Vigilia
Trastorno de la Conducta del Sueño REM
Femenino
Mutación
Masculino
Electromiografía
Demografía
Humanos
Persona de Mediana Edad
Heterocigoto
Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina
Enfermedad de Parkinson
Síndrome de las Piernas Inquietas
Adulto
topic Electromyography
Humans
Demography
Heterozygote
Middle Aged
Parkinson Disease
Male
Restless Legs Syndrome
Mutation
Sleep Wake Disorders
Polysomnography
REM Sleep Behavior Disorder
Protein-Serine-Threonine Kinases
Adult
Female
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Protein Serine-Threonine Kinases
Polisomnografía
Proteínas Serina-Treonina Quinasas
Trastornos del Sueño-Vigilia
Trastorno de la Conducta del Sueño REM
Femenino
Mutación
Masculino
Electromiografía
Demografía
Humanos
Persona de Mediana Edad
Heterocigoto
Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina
Enfermedad de Parkinson
Síndrome de las Piernas Inquietas
Adulto
description Objective In idiopathic Parkinson disease (IPD) sleep disorders are common and may antedate the onset of parkinsonism. Based on the clinical similarities between IPD and Parkinson disease associated with LRRK2 gene mutations (LRRK2-PD), we aimed to characterize sleep in parkinsonian and nonmanifesting LRRK2 mutation carriers (NMC). Methods A comprehensive interview conducted by sleep specialists, validated sleep scales and questionnaires, and video-polysomnography followed by multiple sleep latency test (MSLT) assessed sleep in 18 LRRK2-PD (17 carrying G2019S and one R1441G mutations), 17 NMC (11 G2019S, three R1441G, three R1441C), 14 non-manifesting non-carriers (NMNC) and 19 unrelated IPD. Results Sleep complaints were frequent in LRRK2-PD patients; 78% reported poor sleep quality, 33% sleep onset insomnia, 56% sleep fragmentation and 39% early awakening. Sleep onset insomnia correlated with depressive symptoms and poor sleep quality. In LRRK2-PD, excessive daytime sleepiness (EDS) was a complaint in 33% patients and short sleep latencies on the MSLT, which are indicative of objective EDS, were found in 71%. Sleep attacks occurred in three LRRK2-PD patients and a narcoleptic phenotype was not observed. REM sleep behavior disorder (RBD) was diagnosed in three LRRK2-PD. EDS and RBD were always reported to start after the onset of parkinsonism in LRRK2-PD. In NMC, EDS was rarely reported and RBD was absent. When compared to IPD, sleep onset insomnia was more significantly frequent, EDS was similar, and RBD was less significantly frequent and less severe in LRRK2-PD. In NMC, RBD was not detected and sleep complaints were much less frequent than in LRRK2-PD. No differences were observed in sleep between NMC and NMNC. Conclusions Sleep complaints are frequent in LRRK2-PDand show a pattern that when compared to IPD is characterized by more frequent sleep onset insomnia, similar EDS and less prominent RBD. Unlike in IPD, RBD and EDS seem to be not markers of the prodromal stage of LRRK2-PD.
publishDate 2015
dc.date.none.fl_str_mv 2015
2015-07-15
2015
2015-07-15
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/20.500.13003/15663
url https://hdl.handle.net/20.500.13003/15663
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Public Library Science
publisher.none.fl_str_mv Public Library Science
dc.source.none.fl_str_mv reponame:Docusalut
instname:Conselleria de Salut i Consum del Govern de les Illes Balears
instname_str Conselleria de Salut i Consum del Govern de les Illes Balears
reponame_str Docusalut
collection Docusalut
repository.name.fl_str_mv
repository.mail.fl_str_mv
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