questionsmedicales.fr
Maladies métaboliques et nutritionnelles
Maladies métaboliques
Erreurs innées du métabolisme
Erreurs innées du métabolisme des métaux
Maladie de Menkès
Maladie de Menkès : Questions médicales fréquentes
Termes MeSH sélectionnés :
REM Sleep Behavior Disorder
Diagnostic
5
Syndrome de Menkès
Diagnostic médical
Cheveux
Syndrome de Menkès
Retard de développement
Troubles neurologiques
Âge d'apparition
Syndrome de Menkès
Symptômes
5
Symptômes
Syndrome de Menkès
Troubles neurologiques
Hypotonie
Retard de croissance
Développement physique
Cheveux frisés
Syndrome de Menkès
Anomalies dentaires
Syndrome de Menkès
Prévention
5
Prévention
Dépistage génétique
Dépistage prénatal
Génétique
Tests génétiques
Syndrome de Menkès
Conseils génétiques
Syndrome de Menkès
Vaccinations
Prévention des infections
Traitements
5
Suppléments de cuivre
Traitement médical
Efficacité des traitements
Syndrome de Menkès
Thérapie physique
Développement moteur
Soins palliatifs
Syndrome de Menkès
Transfusions sanguines
Syndrome de Menkès
Complications
5
Complications
Troubles neurologiques
Vie quotidienne
Assistance
Mortalité
Syndrome de Menkès
Troubles du comportement
Syndrome de Menkès
Anomalies cardiaques
Syndrome de Menkès
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Sexe
Transmission génétique
Porteurs
Transmission génétique
Facteurs environnementaux
Syndrome de Menkès
Consanguinité
Transmission génétique
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Maladie de Menkès : Questions médicales les plus fréquentes",
"headline": "Maladie de Menkès : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Maladie de Menkès : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-01-26",
"dateModified": "2025-04-20",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Maladie de Menkès"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Erreurs innées du métabolisme des métaux",
"url": "https://questionsmedicales.fr/mesh/D008664",
"about": {
"@type": "MedicalCondition",
"name": "Erreurs innées du métabolisme des métaux",
"code": {
"@type": "MedicalCode",
"code": "D008664",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "C18.452.648.618"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Maladie de Menkès",
"alternateName": "Menkes Kinky Hair Syndrome",
"code": {
"@type": "MedicalCode",
"code": "D007706",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Hiroko Kodama",
"url": "https://questionsmedicales.fr/author/Hiroko%20Kodama",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan."
}
},
{
"@type": "Person",
"name": "Mi Young Kim",
"url": "https://questionsmedicales.fr/author/Mi%20Young%20Kim",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea."
}
},
{
"@type": "Person",
"name": "Ji Hyun Kim",
"url": "https://questionsmedicales.fr/author/Ji%20Hyun%20Kim",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea."
}
},
{
"@type": "Person",
"name": "Myung Hyun Cho",
"url": "https://questionsmedicales.fr/author/Myung%20Hyun%20Cho",
"affiliation": {
"@type": "Organization",
"name": "Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea."
}
},
{
"@type": "Person",
"name": "Young Hun Choi",
"url": "https://questionsmedicales.fr/author/Young%20Hun%20Choi",
"affiliation": {
"@type": "Organization",
"name": "Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Characterization of memory profile in idiopathic REM sleep behavior disorder.",
"datePublished": "2022-08-19",
"url": "https://questionsmedicales.fr/article/35986521",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1080/13803395.2022.2107182"
}
},
{
"@type": "ScholarlyArticle",
"name": "[Hitting and yelling during sleep: diagnosis and implications of REM sleep behavior disorder].",
"datePublished": "2024-02-08",
"url": "https://questionsmedicales.fr/article/38375860",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": null
}
},
{
"@type": "ScholarlyArticle",
"name": "Increased Free Water in the Putamen in Idiopathic REM Sleep Behavior Disorder.",
"datePublished": "2023-06-21",
"url": "https://questionsmedicales.fr/article/37342973",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1002/mds.29499"
}
},
{
"@type": "ScholarlyArticle",
"name": "Prior exposure to concussions in patients with isolated REM sleep behavior disorder.",
"datePublished": "2023-09-01",
"url": "https://questionsmedicales.fr/article/37660513",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.sleep.2023.08.006"
}
},
{
"@type": "ScholarlyArticle",
"name": "HLA in isolated REM sleep behavior disorder and Lewy body dementia.",
"datePublished": "2023-07-04",
"url": "https://questionsmedicales.fr/article/37401389",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1002/acn3.51841"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Maladies métaboliques et nutritionnelles",
"item": "https://questionsmedicales.fr/mesh/D009750"
},
{
"@type": "ListItem",
"position": 3,
"name": "Maladies métaboliques",
"item": "https://questionsmedicales.fr/mesh/D008659"
},
{
"@type": "ListItem",
"position": 4,
"name": "Erreurs innées du métabolisme",
"item": "https://questionsmedicales.fr/mesh/D008661"
},
{
"@type": "ListItem",
"position": 5,
"name": "Erreurs innées du métabolisme des métaux",
"item": "https://questionsmedicales.fr/mesh/D008664"
},
{
"@type": "ListItem",
"position": 6,
"name": "Maladie de Menkès",
"item": "https://questionsmedicales.fr/mesh/D007706"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Maladie de Menkès - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Maladie de Menkès",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-09",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Maladie de Menkès",
"description": "Comment diagnostique-t-on la maladie de Menkès ?\nQuels tests génétiques sont utilisés ?\nLes analyses de cheveux sont-elles utiles ?\nQuels signes cliniques indiquent cette maladie ?\nÀ quel âge se manifeste la maladie ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=REM+Sleep+Behavior+Disorder#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Maladie de Menkès",
"description": "Quels sont les symptômes principaux ?\nLes problèmes neurologiques sont-ils fréquents ?\nY a-t-il des problèmes de croissance ?\nLes cheveux sont-ils affectés ?\nDes problèmes dentaires sont-ils associés ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=REM+Sleep+Behavior+Disorder#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Maladie de Menkès",
"description": "Peut-on prévenir la maladie de Menkès ?\nLe dépistage prénatal est-il possible ?\nLes parents porteurs peuvent-ils être testés ?\nDes conseils génétiques sont-ils disponibles ?\nLes vaccinations sont-elles recommandées ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=REM+Sleep+Behavior+Disorder#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Maladie de Menkès",
"description": "Quel est le traitement principal ?\nLes traitements sont-ils efficaces ?\nY a-t-il des thérapies complémentaires ?\nLes soins palliatifs sont-ils nécessaires ?\nLes transfusions sanguines sont-elles utiles ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=REM+Sleep+Behavior+Disorder#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Maladie de Menkès",
"description": "Quelles sont les complications possibles ?\nLa maladie affecte-t-elle la vie quotidienne ?\nY a-t-il un risque accru de mortalité ?\nLes troubles comportementaux sont-ils fréquents ?\nDes problèmes cardiaques peuvent-ils se développer ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=REM+Sleep+Behavior+Disorder#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Maladie de Menkès",
"description": "Quels sont les facteurs de risque connus ?\nLa maladie est-elle plus fréquente chez certains sexes ?\nLes parents porteurs sont-ils à risque ?\nY a-t-il des facteurs environnementaux ?\nLes consanguinités augmentent-elles le risque ?",
"url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=REM+Sleep+Behavior+Disorder#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostique-t-on la maladie de Menkès ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur l'examen clinique, l'analyse des cheveux et des tests génétiques."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests de séquençage de l'ADN peuvent identifier des mutations dans le gène ATP7A."
}
},
{
"@type": "Question",
"name": "Les analyses de cheveux sont-elles utiles ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles montrent des anomalies typiques, comme des cheveux frisés et cassants."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent cette maladie ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des retards de développement, des troubles neurologiques et des cheveux anormaux sont des indicateurs."
}
},
{
"@type": "Question",
"name": "À quel âge se manifeste la maladie ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes apparaissent généralement dans les premiers mois de la vie."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des cheveux frisés, des retards de développement et des convulsions."
}
},
{
"@type": "Question",
"name": "Les problèmes neurologiques sont-ils fréquents ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles neurologiques comme l'hypotonie et des crises convulsives sont courants."
}
},
{
"@type": "Question",
"name": "Y a-t-il des problèmes de croissance ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les enfants peuvent présenter un retard de croissance et un développement physique anormal."
}
},
{
"@type": "Question",
"name": "Les cheveux sont-ils affectés ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils sont souvent frisés, cassants et de couleur pâle, d'où le nom de la maladie."
}
},
{
"@type": "Question",
"name": "Des problèmes dentaires sont-ils associés ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies dentaires peuvent également survenir chez les patients atteints."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir la maladie de Menkès ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La maladie étant génétique, il n'existe pas de prévention, mais un dépistage peut aider."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier des mutations génétiques chez le fœtus."
}
},
{
"@type": "Question",
"name": "Les parents porteurs peuvent-ils être testés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent déterminer si les parents sont porteurs de la mutation."
}
},
{
"@type": "Question",
"name": "Des conseils génétiques sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques."
}
},
{
"@type": "Question",
"name": "Les vaccinations sont-elles recommandées ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les vaccinations sont recommandées pour prévenir d'autres infections."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement consiste en des suppléments de cuivre pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils efficaces ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements peuvent améliorer certains symptômes, mais ne guérissent pas la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des thérapies complémentaires ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies physiques et occupationnelles peuvent aider au développement moteur."
}
},
{
"@type": "Question",
"name": "Les soins palliatifs sont-ils nécessaires ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des soins palliatifs peuvent être requis pour gérer les symptômes avancés."
}
},
{
"@type": "Question",
"name": "Les transfusions sanguines sont-elles utiles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les transfusions ne sont pas un traitement pour la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de croissance."
}
},
{
"@type": "Question",
"name": "La maladie affecte-t-elle la vie quotidienne ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent avoir besoin d'assistance pour les activités quotidiennes."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de mortalité ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès peut réduire l'espérance de vie en raison de complications."
}
},
{
"@type": "Question",
"name": "Les troubles comportementaux sont-ils fréquents ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent survenir en raison de l'atteinte neurologique."
}
},
{
"@type": "Question",
"name": "Des problèmes cardiaques peuvent-ils se développer ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies cardiaques peuvent être associées à la maladie de Menkès."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque connus ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs de risque incluent des antécédents familiaux de la maladie et des mutations génétiques."
}
},
{
"@type": "Question",
"name": "La maladie est-elle plus fréquente chez certains sexes ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la maladie de Menkès affecte principalement les garçons en raison de son mode de transmission."
}
},
{
"@type": "Question",
"name": "Les parents porteurs sont-ils à risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les parents porteurs de mutations dans le gène ATP7A peuvent transmettre la maladie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, aucun facteur environnemental n'est clairement associé à la maladie."
}
},
{
"@type": "Question",
"name": "Les consanguinités augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les unions consanguines peuvent augmenter le risque de transmission de la maladie."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 20/04/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Graduate School of Health Sciences, Teikyo Heisei University, Toshima-ku, Tokyo 170-8445, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Radiology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric Urology, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Plastic and Reconstructive Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Malatya Educational Research Hospital, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Orthopedic and Trauma Surgery, Inonu University Medicine Faculty, Malatya, Turkey. Electronic address: okaslanturk@hotmail.com.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Department of Research Unit, Faculty of Medicine, Toho University, Ota-ku, Tokyo 143-8540, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Publications dans "Maladie de Menkès" :
The present study aims to examine whether declarative memory dysfunction relates to impaired core memory mechanisms or attentional and executive dysfunction in idiopathic REM Sleep Behavior Disorder (...
In this observational, cross-sectional study, were enrolled 82 individuals with the diagnosis of iRBD according to the International Classification of Sleep Disorders and 49-matched healthy controls f...
We used Bayesian multivariate generalized linear model analysis to evaluate the effect of iRBD on memory performance controlled for effects of age and sex. Individuals with iRBD displayed worse memory...
In iRBD, we replicated findings of reduced free recall based on inefficient retrieval (retrieval deficit), which was small in terms of effect size. Importantly, the memory profile across measures does...
Rapid eye movement (REM) sleep behavior disorder is characterized by dream enactment during REM sleep. Due to different treatment requirements, it is important to distinguish REM sleep behavior disord...
It has been suggested that the loss of nigrostriatal dopaminergic axon terminals occurs before the loss of dopaminergic neurons in the substantia nigra (SN) in Parkinson's disease (PD). This study aim...
Free water values in the DPP, dorsoanterior putamen (DAP), and posterior SN were compared between the healthy controls (n = 48), iRBD (n = 43) and PD (n = 47) patients. In iRBD patients, the relations...
Free water values were significantly higher in the DPP and posterior substantia nigra (pSN), but not in the DAP, in the iRBD and PD groups than in controls. In iRBD patients, free water values in the ...
This study demonstrates that free water values in the DPP are increased cross-sectionally and longitudinally and associated with clinical manifestations and the function of the dopaminergic system in ...
Traumatic brain injury is associated with the late development of neurodegenerative diseases such as the synucleinopathies. Isolated REM sleep behavior disorder (IRBD) constitutes an early manifestati...
Prior exposure to concussions was evaluated by interviewing polysomnographically-confirmed IRBD patients and controls without IRBD, and by the BRAIN-Q questionnaire....
We recruited 199 IRBD patients aged 73.2 ± 7.7 years and 168 age and sex matched controls. Previous history of concussion was more common in patients than in controls (21.1% versus 10.1%, p = 0.004). ...
Previous history of concussion is common in IRBD. Our observations may suggest that in individuals with increased susceptibility, early-life concussions may trigger a slow neurodegenerative process le...
Synucleinopathies-related disorders such as Lewy body dementia (LBD) and isolated/idiopathic REM sleep behavior disorder (iRBD) have been associated with neuroinflammation. In this study, we examined ...
REM sleep behavior disorder (RBD) is a parasomnia with dream enactment and presence of REM sleep without atonia (RSWA). RBD diagnosed manually via polysomnography (PSG) scoring, which is time intensiv...
Idiopathic/isolated REM sleep behavior disorder (iRBD) has been strongly linked to neurodegenerative synucleinopathies such as Parkinson disease, dementia with Lewy bodies, and multiple system atrophy...
Participants were enrolled in the North American Prodromal Synucleinopathy cohort with polysomnography-confirmed iRBD, free of parkinsonism and dementia. Plasma samples were systematically screened fo...
Of 339 samples analyzed, 3 participants (0.9%) had confirmed positive IGLON5 autoantibodies in the cell-based assay, which were confirmed by the tissue-based assay. An additional participant was posit...
Our finding that nearly 1% of a large iRBD cohort may have a serious but potentially treatable autoantibody syndrome has important clinical implications. In particular, it raises the question of wheth...
NCT03623672....
To investigate the risk factors for REM sleep behavior disorder (RBD) in a case-control study....
Participants with probable RBD (pRBD) were defined using the RBD Questionnaire-Hong Kong (RBDQ-HK). Controls were collected by matching age and sex. Demographic information, lifestyle, comorbidity, pr...
A total of 278 pRBD participants (age = 58.31 ± 15.82 years) and 556 controls (age = 58.16 ± 15.84 years) were enrolled in this study. Patients with pRBD were more likely to be current alcohol drinker...
We determined several risk factors for pRBD in this case-control study. Future studies are needed to understand the mechanism underlying the association between these factors and pRBD....
Periodic limb movement disorder (PLMD) is a condition in which patients experience frequent periodic limb movements of sleep (PLMS). Synchronized arousal responses cause sleep fragmentation, resulting...
Isolated Rapid Eye Movement Sleep (REM) behaviour disorder (iRBD) is a prodromal sign of neurodegenerative disorders. Empirical findings point to a role of non-REM (NREM) sleep alterations in neurodeg...