Movement Disorders Clinical Practice最新文献_第7页

Cardiac Sympathetic Neuroimaging in Autonomic Synucleinopathies: ¹²³I-Metaiodobenzylguanidine and ¹⁸F-Dopamine. 自主神经突触核病的心脏交感神经影像学：123I-Metaiodobenzylguanidine和18f -多巴胺。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-07-06 DOI: 10.1002/mdc3.70722

David S Goldstein

{"title":"Cardiac Sympathetic Neuroimaging in Autonomic Synucleinopathies: 123I-Metaiodobenzylguanidine and 18F-Dopamine.","authors":"David S Goldstein","doi":"10.1002/mdc3.70722","DOIUrl":"10.1002/mdc3.70722","url":null,"abstract":"In the diagnostic evaluation of Parkinson's disease (PD), cardiac sympathetic neuroimaging has been viewed as a supportive test. This review argues that the clinical and scientific value of cardiac sympathetic neuroimaging is broader than being merely confirmatory. 123I-metaiodobenzylguanidine (123I-MIBG) single photon emission computed tomography (SPECT) is the practical clinical modality for detecting cardiac sympathetic denervation, whereas 18F-dopamine positron emission tomography (PET) also provides a pathophysiologic probe of sympathetic neuronal uptake, vesicular sequestration, and intra-neuronal catecholamine metabolism. In autonomic synucleinopathies, this distinction is especially relevant for separating PD with orthostatic hypotension (PD + OH) from the parkinsonian form of multiple system atrophy (MSA-P), for predicting phenoconversion in isolated neurogenic OH, for delineating specific intra-neuronal functional abnormalities, and for stratifying patients for mechanism-based treatment trials. Evidence from prospective longitudinal studies and computational modeling supports a body-first pathway in some central Lewy body diseases, with cardiac noradrenergic deficiency preceding overt motor or cognitive manifestations. Cardiac sympathetic neuroimaging therefore may help move the field from clinical confirmation toward biomarker-based diagnosis, prognostication, and preclinical intervention.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2395-2404"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148391342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments. 精准医学治疗伴有脑铁积累（NBIA）的神经退行性疾病：新兴治疗的最新进展。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-07-10 DOI: 10.1002/mdc3.70736

Susanne A Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock

{"title":"Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments.","authors":"Susanne A Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock","doi":"10.1002/mdc3.70736","DOIUrl":"10.1002/mdc3.70736","url":null,"abstract":"Background: Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and expert opinion suggest PKAN, BPAN, PLAN, and MPAN are the most common subtypes. NBIA disorders present with a wide spectrum of clinical symptoms, including movement disorders (dystonia, parkinsonism, chorea), pyramidal involvement (eg, spasticity), speech and cognitive deficits, motor and cognitive slowing, and ocular abnormalities. Treatment remains symptomatic, though several new drugs are in development.Objectives and methods: Following our review published in 2021, this article provides an updated summary of recent developments. We discuss the rationale of new compounds, summarize clinical trials or-in their absence-preclinical studies for NBIA subtypes. The article is divided into two sections: one section on general approaches based on the shared feature of increased iron in the brain; and the second section on tailor-made, mechanistic treatments for the various NBIA subtypes targeting the specific molecular and cellular pathways of the affected enzyme including gene therapy.Results and conclusions: In summary, randomized controlled trials in NBIA have not yet demonstrated substantial benefit, neither for iron removal, in general, which appears to be clinically ineffective in most subtypes, except aceruloplasminemia; nor for subtype-specific approaches. Several ongoing studies are exploring more dedicated compounds in this exciting field.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2405-2418"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13352496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148422723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Living with the Unknown: Intolerance of Uncertainty in Parkinson's Disease. 与未知生活：帕金森病的不确定性的不容忍。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-05-14 DOI: 10.1002/mdc3.70679

Bradley McDaniels, Gregory M Pontone, Kuhan Pushparatnam, Indu Subramanian

{"title":"Living with the Unknown: Intolerance of Uncertainty in Parkinson's Disease.","authors":"Bradley McDaniels, Gregory M Pontone, Kuhan Pushparatnam, Indu Subramanian","doi":"10.1002/mdc3.70679","DOIUrl":"10.1002/mdc3.70679","url":null,"abstract":"Background: Parkinson's disease (PD) is marked by pervasive uncertainty due to fluctuating motor and non-motor symptoms, variable treatment response, and an unpredictable clinical course. Intolerance of uncertainty (IU), a tendency to perceive ambiguity as threatening and respond with worry, avoidance, or decisional paralysis, may be consequential in PD, yet lacks a PD-focused synthesis.Objective: To synthesize conceptual, qualitative, and emerging quantitative literature on IU in idiopathic PD, describe clinical and psychosocial correlates across the illness trajectory, and identify implications for assessment and intervention.Methods: This targeted narrative review searched MEDLINE (PubMed), Embase, PsycINFO, and Web of Science from inception to May 22, 2025, supplemented by reference screening and Parkinson's disease conference or guidance sources. English-language empirical and clinically informative papers addressing intolerance of uncertainty (IU) or closely related uncertainty constructs in adults with idiopathic PD and/or care partners were appraised at title/abstract and full-text levels, then charted for narrative synthesis.Results: Across qualitative, quantitative, intervention, and clinical review/guidance papers, symptom unpredictability, treatment uncertainty, identity disruption, shame, and future-planning concerns were linked with anxiety, demoralization, avoidance, reduced participation, and poorer quality of life.Conclusion: IU may be a modifiable, common underlying pathway through which PD-related unpredictability, potentially influenced by dopaminergic, executive, and stress-system vulnerabilities, contributes to sustained psychological and functional burden. Advancing PD-sensitive measurement and testing IU-targeted interventions within multidisciplinary care models may improve adjustment and quality of life for patients and caregivers.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2353-2364"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147941406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Epileptic-Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum. 与PPP3CA变异相关的癫痫性运动障碍脑病：表型谱的扩展。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-04-09 DOI: 10.1002/mdc3.70635

Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña

引用次数: 0

Hereditary Spastic Paraplegia Type 83 with Homozygous Variant in HPDL, Report of 3 Cases in a Mexican Family. 遗传性痉挛性截瘫83型伴HPDL纯合变异，附墨西哥家庭3例报告。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-05-22 DOI: 10.1002/mdc3.70645

Andrea B Fiscal-Carvajal, Graciela A López-Uriarte, Laura E Martínez-Garza, Giovana Femat-Roldán

引用次数: 0

How Do I: How and When Do I Inject Suboccipital Muscles in Cervical Dystonia. 如何注射：如何及何时注射枕下肌治疗颈肌张力障碍。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-06-11 DOI: 10.1002/mdc3.70684

Shreyashi Jha, Arun Mathai Mani, Mandar S Jog

{"title":"How Do I: How and When Do I Inject Suboccipital Muscles in Cervical Dystonia.","authors":"Shreyashi Jha, Arun Mathai Mani, Mandar S Jog","doi":"10.1002/mdc3.70684","DOIUrl":"10.1002/mdc3.70684","url":null,"abstract":"Cervical dystonia (CD) is characterized by involuntary, sustained or intermittent contractions of neck muscles, leading to abnormal postures, often associated with pain or tremor. Utilizing the COL-CAP framework, the Caput subtype describes the head motion resulting from the action of muscles on the occipito-atlantal (C0-C1) and atlantoaxial (C1-C2) joints; while the Collis subtype describe the neck motion induced by muscle action on the cervical spine (C2-C7). Co-existence of various Caput and Collis subtype combinations in CD is well known. The suboccipital muscles are significant drivers of CD with static and dynamic caput movements. Accurate injections of botulinum toxin into these muscles when required can ensure optimal improvement in CD. This video describes the five suboccipital muscles involved in CD (Obliquus Capitis Inferioris, Semispinalis Capitis, Rectus Capitis Posterior Major, Obliquus Capitis Superioris and Longissimus Capitis), routinely injected at our Centre. With an understanding of the anatomy of the muscles, indications for injection and technique of needle placement for these muscles are also described for movement disorder specialists.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2655-2660"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148226693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Healthcare Utilization Patterns of Persons Living with Parkinson's Disease and Related Disorders with Moderate to High Palliative Care Needs. 帕金森氏病及相关疾病患者中重度姑息治疗需求的医疗保健利用模式

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-04-25 DOI: 10.1002/mdc3.70639

Sana Aslam, Roman Ayele, Michelle Fullard, Stefan Sillau, R Brett McQueen, Janis M Miyasaki, Maya Katz, Benzi Kluger

{"title":"Healthcare Utilization Patterns of Persons Living with Parkinson's Disease and Related Disorders with Moderate to High Palliative Care Needs.","authors":"Sana Aslam, Roman Ayele, Michelle Fullard, Stefan Sillau, R Brett McQueen, Janis M Miyasaki, Maya Katz, Benzi Kluger","doi":"10.1002/mdc3.70639","DOIUrl":"10.1002/mdc3.70639","url":null,"abstract":"Background: Healthcare utilization among individuals with Parkinson's disease and related disorders (PDRD) with significant palliative care (PC) needs is not well characterized.Objectives: To describe healthcare utilization in a well-defined cohort of PDRD patients with moderate-to-high PC needs.Methods: We conducted a secondary analysis of a multi-site randomized trial of outpatient PC. Participants reported healthcare utilization every six weeks over 12 months. Outcomes included emergency department (ED) visits, overnight hospitalizations, in-home medical services, and psychosocial or spiritual support.Results: Among 210 patients (mean age 70.1 years; 64% male), the annualized ED visit rate was 1.16 per person-year (95% CI 0.94-1.42) and the hospitalization rate was 0.48 per person-year (95% CI 0.33-0.69). Among 136 participants with complete follow-up, 43.4% had ≥1 ED visit and 21.3% had ≥1 hospitalization. Home-based services were used by 38.1%.Conclusions: Utilization rates exceeded those reported in broader PD populations but were lower than in dementia. Persistent home-based care needs highlight ongoing supportive care demands.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2552-2558"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339299/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147776956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Ecology of Care in Parkinson's Disease. 帕金森病护理的生态学。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-06-09 DOI: 10.1002/mdc3.70705

Joaquin A Vizcarra

引用次数: 0

Artists and Parkinson's Disease: A Case Series and Narrative Review of Literature. 艺术家与帕金森氏症：个案系列及文献叙述回顾。

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-07-15 DOI: 10.1002/mdc3.70708

Isabelle Buard, Chetan Giduturi, Timothy C Yin, Jessica E Kurtz, Andrew J John, Jason Petusevsky, Lucas Lattanzio, Sara Rockinger, Marilyn O'Reilly, Jonny Acheson, Alexander Tressor, Jennifer G Goldman, Mark A Hirsch

{"title":"Artists and Parkinson's Disease: A Case Series and Narrative Review of Literature.","authors":"Isabelle Buard, Chetan Giduturi, Timothy C Yin, Jessica E Kurtz, Andrew J John, Jason Petusevsky, Lucas Lattanzio, Sara Rockinger, Marilyn O'Reilly, Jonny Acheson, Alexander Tressor, Jennifer G Goldman, Mark A Hirsch","doi":"10.1002/mdc3.70708","DOIUrl":"10.1002/mdc3.70708","url":null,"abstract":"Background: Modulation of artistic creativity has occasionally been reported in individuals with Parkinson's disease (PD) after dopamine replacement therapy. Who better to describe this phenomenon and experiences with artistic endeavors than professional artists living with PD? This study aimed to explore their personal experiences of creating art while living with the condition.Cases: We interviewed 5 professional artists with PD. Each artist responded sequentially to 6 questions focused on PD, dopamine, and creativity in the context of art making. Four themes were identified: (1) impact of PD: most reported negative effects on quality of life and daily function; (2) artistic changes: all noted changes in style or technique but not in creativity; (3) medications and on/off effects: artists adapted their work schedules around motor fluctuations; and (4) artistic representation: 3 created PD-related pieces, some of which were commercialized.Literature review: This small qualitative case series and narrative review of the literature shows multiple instances of art and novelty facilitation among patients with PD, touching on interactions among PD symptoms, dopaminergic medications and other treatments, and their art.Conclusions: Exploring the artistic experiences of individuals with PD may provide insights relevant to managing both motor and nonmotor symptoms associated with the disease.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2575-2585"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13373514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148456319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype. 以运动障碍为表现的非典型mecp2相关Rett综合征-显性表型

IF 3.4 4区医学

Movement Disorders Clinical Practice Pub Date : 2026-10-01 Epub Date: 2026-06-02 DOI: 10.1002/mdc3.70697

Ján Necpál, Paula Stretavská, Elisabetta Indelicato, Evžen Růžička, Matej Škorvánek, Bibiána Jeleňová, Sylvia Boesch, Robert Jech, Michael Zech

{"title":"Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype.","authors":"Ján Necpál, Paula Stretavská, Elisabetta Indelicato, Evžen Růžička, Matej Škorvánek, Bibiána Jeleňová, Sylvia Boesch, Robert Jech, Michael Zech","doi":"10.1002/mdc3.70697","DOIUrl":"10.1002/mdc3.70697","url":null,"abstract":"Background: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a typical natural history, including early stagnation, rapid regression, a pseudostationary phase, and late motor deterioration. Seizures, autistic features, breathing abnormalities, stereotypies, and various movement disorders are often present. Currently, the diagnosis of atypical RTT requires a period of regression and fulfillment of at least two main criteria, and at least five of 11 supportive criteria.Cases: We describe five patients (aged 20-61 years), unexpectedly diagnosed with RTT, exhibiting a movement-disorder-predominant phenotype, most commonly dystonia. These patients lacked the typical natural course of RTT and, in most cases, showed preserved social functioning and an essentially normal life. As none of the patients fulfilled the diagnostic criteria for either typical or atypical RTT, we have labeled them as \"atypical atypical\" RTT.Conclusions: We recommend a revision of the current diagnostic criteria for RTT to include also more atypical presentations.","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"2599-2605"},"PeriodicalIF":3.4,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13339272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148150517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0