Movement Disorders Clinical Practice最新文献

{"title":"Clinical Evaluation of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C: A Critical Perspective.","authors":"Gala Lopez, Carla Holgado","doi":"10.1002/mdc3.70041","DOIUrl":"https://doi.org/10.1002/mdc3.70041","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649862","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}

{"title":"Gastrointestinal Manifestations in Parkinson's Disease Using a Validated Arabic Version of Gastrointestinal Dysfunction Scale: A Multicenter Study.","authors":"Ali Soliman Shalash, Marwa Yassien Badr, Yara Salah, Shimaa Elgamal, Shaimaa Ahmed Elaidy, Eman Abdel-Mageed Elhamrawy, Hayam Abdel-Tawab, Eman Hamid, Ehab Ahmed El-Seidy, Noha Lotfy Dawood","doi":"10.1002/mdc3.70005","DOIUrl":"https://doi.org/10.1002/mdc3.70005","url":null,"abstract":"<p><strong>Background: </strong>Gastrointestinal symptoms (GIS) contribute to the morbidity of Parkinson's disease (PD), with limited specific assessment tools.</p><p><strong>Objective: </strong>This multicenter study aimed to translate and validate the Gastrointestinal Dysfunction Scale for PD (GIDS-PD) into an Arabic version and to investigate the characteristics of GIS and its correlates.</p><p><strong>Methods: </strong>A total of 162 patients with PD and 165 age- and sex-matched healthy controls were assessed using the GIDS-PD. Arabic version was assessed for test-retest reliability, construct validity, convert validity, and floor or ceiling effects. Patients were assessed also using the International Parkinson and Movement Disorders Society-Unified Parkinson's Disease Rating Scale, Non-motor Symptoms Scale, and Parkinson's Disease Questionnaire-39.</p><p><strong>Results: </strong>The Arabic version of the GIDS-PD exhibited proper convergent validity, inter- and intrarater consistency, and an acceptable ceiling effect. Compared to controls, patients exhibited significantly higher frequency of all GIDS-PD items: difficulty in passing stools (86.42%), experiencing hard stools (65%), sensation of incomplete evacuation (75.93%), abdominal pain (69.14%), abnormal increase in passing stools (50.62%), abdominal distention (85.19%), involuntary weight loss (48.77%), difficulty in swallowing (64.81%), excessive salivation (68.52%), heartburn (82.10%), and nausea (43.83%). GISs were correlated to disease duration, motor and nonmotor severity, motor complications, and poorer quality of life (QoL). Predictors of the GIDS-PD included disease stage, motor severity, nonmotor burden, age, and dopaminergic daily dosage.</p><p><strong>Conclusion: </strong>This multicenter study provided a validated Arabic version of GIDS-PD and demonstrated the high frequency of different GISs; their high correlation with motor severity, nonmotor burden, dopaminergic dosage, and age; and their negative impact on QoL, implying the importance of their assessment and management.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634355","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}

{"title":"Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.","authors":"María I Vanegas, Anna Marcé-Grau, Ana Cazurro-Gutiérrez, Feline Hamami, Elze R Timmers, Anne Weißbach, Marina A J Tijssen, Victoria González, Lucía Dougherty-de Miguel, Marina Martin, Monika Benson, Carola Reinhard, Belén Pérez-Dueñas","doi":"10.1002/mdc3.70028","DOIUrl":"https://doi.org/10.1002/mdc3.70028","url":null,"abstract":"<p><strong>Background: </strong>Myoclonus-dystonia syndrome (MDS) is a genetic movement disorder with childhood-onset, most frequently caused by SGCE defects.</p><p><strong>Objective: </strong>To evaluate the diagnostic and treatment strategies in MDS used by experts from the European Reference Network for rare neurological diseases (ERN-RND), and to assess the diagnosis and management experience in patients with MDS.</p><p><strong>Methods: </strong>Two different questionnaires were distributed: one among neurologists from ERN-RND, and another among patients and families with SGCE-related MDS.</p><p><strong>Results: </strong>Twenty-nine adult and child neurologists from 14 countries, and 84 patients and caregivers from 12 countries, replied to the surveys. All the patients included in the analysis had SGCE-related MDS. The mean age was 30.8 years (SD 19,9; range 3-75). Sixty-nine percent of patients were diagnosed in childhood and 70% had a positive family history. Most participants suffered from predominant upper body myoclonus and focal/segmental dystonia, hindering daily activities in 80% of patients, such as handwriting, drinking, feeding, walking and speech. Botulinum toxin and DBS were effective options for managing movement disorders compared to pharmacological treatments. However, neither of these therapies were applied optimally. We found deficiencies in recognition and management of academic difficulties, and a high unemployment rate. Despite all but one patient reported psychiatric symptoms such as anxiety, depression or OCD, there was a lack of formal psychiatric evaluations.</p><p><strong>Conclusions: </strong>SGCE-MDS is a well-known neurological disorder among movement disorder specialists in Europe. Offering a multidisciplinary approach that tackles both movement disorders and neuropsychiatric comorbidities could enhance the diagnosis and treatment of patients with SGCE-MDS.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634310","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}

{"title":"Acanthamoeba Encephalitis Presenting as Rapidly Developing Parkinsonism-A Wolf in Sheep's Clothing.","authors":"Jacky Ganguly, A Shobhana, Soumava Mukherjee, Nilam Singh, Aniruddha Kundu, Purba Basu, Hrishikesh Kumar","doi":"10.1002/mdc3.70031","DOIUrl":"https://doi.org/10.1002/mdc3.70031","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634308","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}

{"title":"Clinical Outcomes with Prospective Brain Sensing Data Following Bilateral Globus Pallidus Deep Brain Stimulation in X-Linked Dystonia Parkinsonism.","authors":"Eoghan Donlon, Clodagh O'Keeffe, Jack Horan, Frederica Ruggieri, Jessica Fitzpatrick, Michael O'Neill, Michael Alexander, Conor Fearon, Catherine Moran, Richard A Walsh","doi":"10.1002/mdc3.70044","DOIUrl":"https://doi.org/10.1002/mdc3.70044","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634327","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}

{"title":"Benign Idiopathic Myoclonus: A New Clinical Entity?","authors":"Giorgia Sciacca, A M Madelein van der Stouwe, Sterre van der Veen, Hendriekje Eggink, Martje E van Egmond, Jan Willem J Elting, Marina A J Tijssen","doi":"10.1002/mdc3.70039","DOIUrl":"https://doi.org/10.1002/mdc3.70039","url":null,"abstract":"<p><strong>Background: </strong>Myoclonus is a brief shock-like, involuntary movement, which can be distinguished in physiologic, essential, epileptic, and symptomatic, according to its etiology. Physiologic myoclonus typically occurs in healthy people without disability or progression.</p><p><strong>Objectives: </strong>We suggest a new nosological entity in the physiologic group: \"benign idiopathic myoclonus.\"</p><p><strong>Methods: </strong>We present a cohort of patients with isolated adolescent-onset, distal limb myoclonus at rest and during action, in absence of a known cause and disabling progression, who underwent both clinical and neurophysiological examination in our tertiary Movement Disorders Expertise Center Groningen.</p><p><strong>Results: </strong>Fifteen patients (4 men [26.7%]; age at onset, 18.1 ± 3.6 years; disease-duration, 5.3 ± 3.7 years) were assessed. Neurophysiological examinations, including electromyography (EMG) (n = 14), somatosensory evoked potentials (SEPs, n = 4); electroencephalography (EEG)-EMG with back-averaging (BA, n = 11) and cortico-muscular coherence (CMC, n = 10), confirmed the clinical diagnosis of myoclonus in all patients. Mean EMG burst duration was 62.6 ± 13.7 ms and a cortical origin of myoclonus was demonstrated in six cases (40%). No genetic causes were found. Follow-up at 0.5 to 8 years depicted clinically stable conditions in eight patients (61.5%), complete remission in four (30.8%), whereas one patient (7.7%) reported slight progression.</p><p><strong>Conclusions: </strong>We suggest a new phenotype of physiologic myoclonus, which might be called \"benign idiopathic myoclonus.\" It is characterized by distal myoclonus with onset during adolescence and benign course, without requiring treatment. Clinically and neurophysiologically these jerky movements were compatible with cortical myoclonus in some patients. We were unable to establish any genetic causes in explored cases. This phenotype might represent a particular subgroup of physiologic myoclonus, to be substantiated in multicenter cohorts.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634322","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}

{"title":"Very Late-Onset Neurodegeneration with Brain Iron Accumulation Associated with Mild Chorea: A Clinicopathological Case.","authors":"Jussi O T Sipilä, Aki Hietaharju, Anna Maija Saukkonen, Laura Kytövuori, Liisu Balk, Valtteri Kaasinen, Tuomas Rauramaa","doi":"10.1002/mdc3.70032","DOIUrl":"https://doi.org/10.1002/mdc3.70032","url":null,"abstract":"<p><strong>Background: </strong>Neurodegeneration with Brain Iron Accumulation (NBIA) rarely manifests after the age of 50 years. The phenotype in these cases is most often parkinsonism.</p><p><strong>Objectives: </strong>To present the case with the oldest age of NBIA onset reported so far.</p><p><strong>Methods: </strong>Clinico-pathological case.</p><p><strong>Results: </strong>A female patient presented at 84 years of age with wobbling of the head that had started approximately 2 years ago. Choreiform movements of the head and upper body were observed and these abated when she focused on doing something else or lay down but started again when she was talking or moving. There were no cerebellar signs, abnormal reflexes or sensory disturbance. Cognitive screening tests were abnormal but significant cognitive symptoms absent. Magnetic Resonance Imaging (MRI) showed extensive iron accumulation in the basal ganglia and upper pons. Extensive analyses yielded no genetic diagnosis. She died suddenly 19 months after her first appointment. In neuropathological analysis the basal ganglia, especially the lenticular nuclei, were macroscopically darker than normal with notable iron accumulation in the arterial walls in these areas. Prominent axonal ballooning was observed especially in the internal globus pallidus. Globus pallidus displayed iron accumulation, observed to a slightly lesser extent also in the substantia nigra pars reticulata. The neuropathological phenotype resembled classical pantothenate kinase-associated neurodegeneration (PKAN). Concomitant beta-amyloid, hyperphosphorylated tau protein (consistent with primary age-related tauopathy, or PART) and TDP-43 (consistent with LATE-NC) pathologies were also evident.</p><p><strong>Conclusions: </strong>NBIA may manifest at a very advanced age with a mild phenotype, likely influenced by coexisting neuropathology.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625431","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}

{"title":"The Gut-Brain Axis in Parkinson disease: Emerging Concepts and Therapeutic Implications.","authors":"Elisa Menozzi, Anthony H V Schapira, Per Borghammer","doi":"10.1002/mdc3.70029","DOIUrl":"https://doi.org/10.1002/mdc3.70029","url":null,"abstract":"<p><strong>Background: </strong>The gut-brain axis, i.e. the bidirectional communication system between the gut and the brain, has become of central importance in Parkinson disease (PD) research over the past 20 years.</p><p><strong>Aims: </strong>We aimed to describe the milestones of the gut-brain axis research in PD and the development of theories proposing the involvement of the gastrointestinal tract in PD pathogenesis.</p><p><strong>Methods: </strong>We searched PubMed using the terms 'gut-brain axis' AND 'Parkinson disease', and selected relevant articles to provide the foundation for reconstructing an historical overview of the gut-brain axis research in PD.</p><p><strong>Results: </strong>Mounting evidence from preclinical, clinical and post-mortem studies suggests that a subgroup of PD patients present with a range of prodromal symptoms (e.g., autonomic dysfunction, rapid eye movement sleep behaviour disorder) which reflect initial accumulation and later spread of pathological α-synuclein rostrally from the gastrointestinal tract (\"body-first\" PD). Through neural connections along the gut-brain axis, pathological α-synuclein may spread to the brain, producing clinically manifest disease. Recently, two mechanisms involving the gut-brain axis have attracted increasing attention for their role in PD pathogenesis and progression, namely the perturbation of the composition of the microorganisms living in the gut (the gut microbiome), and the dysfunction of enteroendocrine cells.</p><p><strong>Conclusion: </strong>Treatments targeting the gut-brain axis, especially the gut microbiome and the enteroendocrine cells pathway, could potentially slow disease progression or even prevent disease onset. Among these, pre/probiotics, faecal microbiota transplantation, and glucagon-like peptide-1 receptor agonists, have entered advanced stages of clinical trials in humans and shown potential symptomatic and disease-modifying effects.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625430","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}

{"title":"Deep Brain Stimulation Withdrawal without Relapse in Chorea-Acanthocytosis: Two Case Reports.","authors":"Jun Ikezawa, Ayako Isoo, Fusako Yokochi, Ryoichi Okiyama, Tsutomu Kamiyama, Akihiro Yugeta, Takashi Agari, Satoko Kumada, Kazushi Takahashi","doi":"10.1002/mdc3.70038","DOIUrl":"https://doi.org/10.1002/mdc3.70038","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605924","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}

{"title":"Rhythmic Eyelid Closure Responsive to STN-DBS: Blepharoclonus, Blepharospasm, Eyelid Opening Apraxia, or Eyelid Tremor?","authors":"Gianfranco Gaudiano, Alexandra Boogers, Talyta Grippe, Roberto Cilia, Roberto Eleopra, Robert Chen, Alfonso Fasano","doi":"10.1002/mdc3.70030","DOIUrl":"https://doi.org/10.1002/mdc3.70030","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605887","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}