Movement Disorders Clinical Practice最新文献_第9页

Мiryachit: A Culture-Specific Startle Syndrome in the Saami People. Мiryachit：萨米人的文化特异性惊吓综合征。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-24 DOI: 10.1002/mdc3.14353

Marianna Selikhova, Yaroslav Bogdanovich Skiba, Dane Rayment, Andrew John Lees

{"title":"Мiryachit: A Culture-Specific Startle Syndrome in the Saami People.","authors":"Marianna Selikhova, Yaroslav Bogdanovich Skiba, Dane Rayment, Andrew John Lees","doi":"10.1002/mdc3.14353","DOIUrl":"https://doi.org/10.1002/mdc3.14353","url":null,"abstract":"Background: Miryachit is perhaps the most complex and least understood of the culture-specific startle syndromes that include latah and the jumping Frenchmen of Maine.Objectives: We carried out a field study to evaluate startle-induced paroxysms in the Saami to determine if it is still endemic and, if so, to contrast it with the available descriptions most of which are in Russian.Methods: Saami families in the Kola Peninsula, who reported a history of miryachit, were interviewed and examined.Results: Miryachit was still present in the Saami population. It most commonly began in middle age, in women with a family history of miryachit. In response to being startled the subjects exhibit coprophenomena and peculiar automatisms, lose self-control, and can attack bystanders and sometimes endanger themselves as a result of reckless behavior. Echophenomena were not seen or reported. Behaviors resembled those of miryachit described in Siberia and have similarities to jumping disease and latah. It was of interest that the individuals with miryachit were considered to have clairvoyant powers in the community and to be highly suggestible. Miryachit (miryachenie) was distinct from piblokto, another type of \"Arctic hysteria,\" associated with fatigue and withdrawal prior to a dissociative, \"frenzied\" state.Conclusions: The study confirms that miryachit phenomenon was observed in the Saami on the Kola Peninsula, and its manifestations are similar to the historical descriptions from Siberia over 80 years ago. Automatic obedience is waning; however, peculiar startle responses persist in predisposed individuals, particularly in descendants of those who were known to have miryachit.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Tic Disorders Care Gaps in Spanish-Speaking Latin America. 拉丁美洲西班牙语地区抽搐症护理缺口。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-22 DOI: 10.1002/mdc3.70020

Alex Medina Escobar, Daniela Munoz, Sylvia Gautreau, Malco Rossi, Tamara Pringsheim

{"title":"Tic Disorders Care Gaps in Spanish-Speaking Latin America.","authors":"Alex Medina Escobar, Daniela Munoz, Sylvia Gautreau, Malco Rossi, Tamara Pringsheim","doi":"10.1002/mdc3.70020","DOIUrl":"https://doi.org/10.1002/mdc3.70020","url":null,"abstract":"Background: Primary tic disorders (TD) are common movement disorders in childhood. However, it is unclear if international guidelines are applied in Latin America.Objectives: To investigate the applicability of TD guidelines in Latin America.Methods: An online survey was developed and distributed to healthcare professionals treating TD across Latin America.Results: Healthcare providers from 15 countries participated. TD are mainly diagnosed by general neurologists (85%). There is limited access to public clinics for movement disorders or TD, and 80% do not utilize a protocol. Rating scales are rarely used. More than half reported being unaware of resources for psychoeducation. Non-pharmacological interventions for TD and alpha agonists are unavailable in several countries. Consequently, antipsychotics are the first line treatment.Conclusions: The ubiquity of TD diagnosis throughout Latin America is a positive aspect, however barriers like limited referral pathways, lack of awareness about tics and treatment options do exist. This highlights the need for more effective pathways for TD in Latin America.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A De Novo SCN2A Variant in a Patient with Adult-Onset Dystonia Parkinsonism and Nigrostriatal Denervation. 一名患有成人肌张力障碍性帕金森症和黑质神经支配的患者体内的新SCN2A变异体

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-22 DOI: 10.1002/mdc3.70014

Marco Bisquoli, Francesco Cavallieri, Giulia Di Rauso, Edoardo Monfrini, Valentina Fioravanti, Gaetano Salomone, Marco Russo, Romana Rizzi, Alessio Di Fonzo, Franco Valzania

引用次数: 0

Being Prodromal: Current Criteria in the Context of Isolated REM Sleep Behavior Disorder. 前驱：孤立的快速眼动睡眠行为障碍的现行标准。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-22 DOI: 10.1002/mdc3.70006

Anja Ophey, Sinah Röttgen, Julia Reichrath, Elke Kalbe, Gereon R Fink, Michael Sommerauer

{"title":"Being Prodromal: Current Criteria in the Context of Isolated REM Sleep Behavior Disorder.","authors":"Anja Ophey, Sinah Röttgen, Julia Reichrath, Elke Kalbe, Gereon R Fink, Michael Sommerauer","doi":"10.1002/mdc3.70006","DOIUrl":"https://doi.org/10.1002/mdc3.70006","url":null,"abstract":"Background: Isolated REM sleep behavior disorder (iRBD) indicates an early α-synucleinopathy with approximately 90% of individuals pheno-converting to Parkinson's disease (PD), dementia with Lewy bodies (DLB), or multiple system atrophy (MSA). Recently, prodromal disease definitions (pPD, pDLB, pMSA) have been introduced.Objective: To investigate the overlap of prodromal definitions in an established iRBD cohort.Methods: We applied the current diagnostic criteria for pPD, pDLB, and pMSA to N = 55 individuals from the local iRBD cohort.Results: All except two individuals fulfilled at least one of the prodromal disease definitions; most individuals were classified as pPD (94.5%). 56% of the individuals fulfilled more than one definition: 32.7% pMSA&pPD, 10.9% pDLB&pPD, and 12.7% all three (pPD&pDLB&pMSA). The cognitive screening [(pPD = pMSA) > pDLB], motor symptoms [pPD < (pDLB = pMSA)], and olfactory testing [(pPD = pDLB) < pMSA] significantly differed between groups.Conclusions: The observed overlap leads to challenges in patient counseling and risk disclosure. Better discrimination will facilitate research in early α-synucleinopathy phases.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Neuroimaging Techniques in Huntington's Disease: A Critical Review. 亨廷顿舞蹈病的神经影像学技术综述

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-20 DOI: 10.1002/mdc3.70010

Mena Farag, Harry Knights, Rachael I Scahill, Peter McColgan, Carlos Estevez-Fraga

{"title":"Neuroimaging Techniques in Huntington's Disease: A Critical Review.","authors":"Mena Farag, Harry Knights, Rachael I Scahill, Peter McColgan, Carlos Estevez-Fraga","doi":"10.1002/mdc3.70010","DOIUrl":"https://doi.org/10.1002/mdc3.70010","url":null,"abstract":"Background: Huntington's disease (HD) is a hereditary neurodegenerative disorder characterized by cognitive, neuropsychiatric and motor symptoms caused by a CAG trinucleotide repeat expansion in the huntingtin gene. Imaging techniques are crucial for understanding HD pathophysiology and monitoring disease progression.Objectives: This review is targeted at general neurologists and movement disorders specialists with an interest in HD and aims to bring complex imaging, including new experimental techniques, closer to the practicing clinician.Methods: We provide a summary of findings from conventional structural, diffusion and functional imaging in HD studies, together with an update on emerging novel techniques, including multiparametric mapping, multi-shell diffusion techniques, ultra-high field 7-Tesla MRI, positron emission tomography and magnetoencephalography.Results: Conventional imaging techniques have deepened our understanding of neuropathological progression in HD, from striatal atrophy to widespread cortical and white matter changes. The integration of novel imaging techniques reviewed has further improved our ability to interrogate, quantify and visualize disease-specific alterations with high precision.Conclusions: Novel imaging techniques have promising roles to further our understanding of HD pathology and as imaging markers for clinical trials, disease staging and therapeutic monitoring. Additionally, the synergistic potential of combining imaging modalities with molecular and genetic data, along with wet biomarkers and clinical data, will help provide a complete and comprehensive view of HD pathology and progression.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Long-Term Benefit of Thalamic Deep Brain Stimulation in POLR3A Mutation-Associated Action Tremor. 丘脑深部脑刺激对 POLR3A 基因突变相关动作性震颤的长期疗效。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-20 DOI: 10.1002/mdc3.70002

Martina Minnerop, Alisha Reinhardt, Petyo Nikolov, Bahne H Bahners, Julian Caspers, Julia Gelenar Marae, Christian J Hartmann, Stefan J Groiss, Katrin Amunts, Jan Vesper, Alfons Schnitzler

引用次数: 0

Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A Variant. 复杂的多灶性肌张力障碍、智力残疾和刻板印象是由一种新的DYRK1A变异引起的。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-19 DOI: 10.1002/mdc3.70013

Laura Santos Sánchez de Las Matas, Carlos Ordás, Berta Almoguera, Fermina López Grondona, Agustín Querejeta Coma

引用次数: 0

Magnetic Resonance-Guided Focused Ultrasound Treatment for Essential Tremor: A Single-Center Experience. 磁共振引导聚焦超声治疗特发性震颤：单中心经验。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-19 DOI: 10.1002/mdc3.70012

Victor S Hvingelby, Pernille Kjeldsen, Bo Bergholt, Gaston Andres Schechtmann, Erik Hvid Danielsen, Mette Møller, Erik Lisbjerg Johnsen, Skirmante Mardosiene, Torben Ellegaard Lund, Dora Grauballe, Michael Geneser, Tina Vincens Sørensen, Lisa Østergaard Bak, Martin Andreasen, Anne Sofie Møller Andersen, Lone Andersen, Kaare Meier, Niels Juhl, Alp Tankisi, Bo Jespersen, Christian Fenger Eriksen, Mads Rasmussen, Winnie Bechmann Eriksen, Birgitte Barrutia, Mette Kromann, Ida Baandrup, Jette Bjørn, Rie Stjernholm, Charlotte Bræmer-Madsen, Signe Mygdal Jørgensen, Jens Christian Hedemann Sørensen, Andreas Nørgaard Glud

{"title":"Magnetic Resonance-Guided Focused Ultrasound Treatment for Essential Tremor: A Single-Center Experience.","authors":"Victor S Hvingelby, Pernille Kjeldsen, Bo Bergholt, Gaston Andres Schechtmann, Erik Hvid Danielsen, Mette Møller, Erik Lisbjerg Johnsen, Skirmante Mardosiene, Torben Ellegaard Lund, Dora Grauballe, Michael Geneser, Tina Vincens Sørensen, Lisa Østergaard Bak, Martin Andreasen, Anne Sofie Møller Andersen, Lone Andersen, Kaare Meier, Niels Juhl, Alp Tankisi, Bo Jespersen, Christian Fenger Eriksen, Mads Rasmussen, Winnie Bechmann Eriksen, Birgitte Barrutia, Mette Kromann, Ida Baandrup, Jette Bjørn, Rie Stjernholm, Charlotte Bræmer-Madsen, Signe Mygdal Jørgensen, Jens Christian Hedemann Sørensen, Andreas Nørgaard Glud","doi":"10.1002/mdc3.70012","DOIUrl":"https://doi.org/10.1002/mdc3.70012","url":null,"abstract":"Background: Essential tremor is the most common hyperkinetic movement disorder. Magnetic resonance imaging-guided focused ultrasound (MRgFUS) has emerged as second-line therapy.Objective: The aim was to obtain the results of the first 108 patients treated with MRgFUS in Denmark.Methods: Data were entered in a quality assurance database at baseline and 3, 6, and 12 months. Clinician- and patient-rated treatment efficacy was evaluated using the Fahn-Marin-Tolosa (FMT) scale and the Patient Global Impression of Change.Results: A total of 108 persons have currently been treated. Tremor improved by a total mean 6.39 points (95% confidence interval [CI]: 5.01;7.76, P < 0.00001) and 9.63 points (95% CI: 7.60;11.66, P < 0.00001), 10.42 (95% CI: 9.06;11.79, P < 0.00001), and 26.45 (95% CI: 22.46;30.43, P < 0.00001) for FMT parts A, B, and C, respectively, at 3 months. Side effects occurred in 65.7% of patients at 3 months and 33.7% at 12 months.Conclusion: Our findings are in line with existing evidence. Questions regarding persistence of gait- and balance-related side effects remain.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143449603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Opicapone to Treat Early Wearing-off in Parkinson's Disease Patients: The European Experience. Opicapone治疗帕金森病患者早期磨损：欧洲经验。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-19 DOI: 10.1002/mdc3.70016

Joaquim J Ferreira, Werner Poewe, José-Francisco Rocha, Olivier Rascol

引用次数: 0

Misophonia in Tic Disorders and Their Neuropsychiatric Associations. 抽动障碍中的恐音症及其神经精神关联。

IF 2.6 4区医学

Movement Disorders Clinical Practice Pub Date : 2025-02-19 DOI: 10.1002/mdc3.70017

Arjun Balachandar, Talyta Cortez Grippe, Wei Kang Lim, Irene A Malaty, Anthony E Lang, Christos Ganos

引用次数: 0