Movement Disorders Clinical Practice最新文献

{"title":"STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.","authors":"Habibah A P Agianda, Amy Tam, Avaneesh Kunta, Umar Zubair, Afshin Saffari, Joshua Rong, Michelle Crough, Rasha Srouji, Vicente Quiroz, Kathryn Yang, Luca Schierbaum, Darius Ebrahimi-Fakhari","doi":"10.1002/mdc3.14322","DOIUrl":"https://doi.org/10.1002/mdc3.14322","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896459","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":"Rapid Cognitive Deterioration in Progressive Supranuclear Palsy: A 1-Year Follow-Up Study.","authors":"Xin-Yi Li, Yu-Jie Yang, Fang-Yang Jiao, Gan Tang, Ming-Jia Chen, Rui-Xin Yao, Yi-Xin Zhao, Xiao-Niu Liang, Bo Shen, Yi-Min Sun, Jian-Jun Wu, Jian Wang, Feng-Tao Liu","doi":"10.1002/mdc3.14315","DOIUrl":"https://doi.org/10.1002/mdc3.14315","url":null,"abstract":"<p><strong>Background: </strong>Nowadays, cognitive impairment has been characterized as one of the most vital clinical symptoms in progressive supranuclear palsy (PSP).</p><p><strong>Objectives: </strong>Based on a relatively large cohort, we aimed to show the cognitive deterioration in different PSP subtypes during 1-year follow-up and investigate potential contributors for disease prognosis.</p><p><strong>Methods: </strong>One hundred seventeen patients from Progressive Supranuclear Palsy Neuroimage Initiative (PSPNI) cohort underwent neuropsychological tests and 1-year follow-up, with 73 diagnosed as PSP-Richardson syndrome (PSP-RS) and 44 as PSP-non-RS. Patients were divided into normal cognition (PSP-NC), mild cognitive impairment (PSP-MCI), and PSP-dementia. Cognitive impairment and progression rates were compared between PSP-RS and PSP-non-RS, and determinants for MCI conversion to dementia were calculated by multiple cox regression.</p><p><strong>Results: </strong>At baseline, 30.8% of PSP patients were diagnosed as dementia, 53.0% as MCI, and only 16.2% as NC. Compared to PSP-non-RS, PSP-RS suffered more from motor symptoms and cognitive impairment. During follow-up, PSP-RS also exhibited faster disease progression in Mini-Mental State Examination and visuospatial function, with cognitive deterioration in attention and executive function, but retained in language and memory subdomains. Twenty-seven of 62 PSP-MCI patients converted to dementia during follow-up, with the diagnosis of RS subtype as the most significant contributor to conversion (hazard ration = 2.993, 95% confidence interval = 1.451, 5.232, P = 0.009).</p><p><strong>Conclusions: </strong>Patients with PSP-RS showed more severe cognitive impairment and faster decline longitudinally than patients with PSP-non-RS. Additionally, the diagnosis of RS subtype appears to be the most contributed factor for MCI conversion to dementia within just 1-year follow-up period.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896457","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":"From the Dance Floor to the Brain: The Effects of Music and Dance on Movement Disorders.","authors":"Maja Kojović","doi":"10.1002/mdc3.14312","DOIUrl":"https://doi.org/10.1002/mdc3.14312","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142896456","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":"Striatal Dopaminergic Function and Motor Slowing in Essential Tremor Plus.","authors":"Aino M Kuusela, Emma A Honkanen, Elina Jaakkola, Elina Myller, Mikael Eklund, Simo Nuuttila, Kirsi-Marja Murtomäki, Tuomas Mertsalmi, Reeta Levo, Toni Ihalainen, Tommi Noponen, Tero Vahlberg, Juho Joutsa, Filip Scheperjans, Valtteri Kaasinen","doi":"10.1002/mdc3.14317","DOIUrl":"https://doi.org/10.1002/mdc3.14317","url":null,"abstract":"<p><strong>Background: </strong>While previous imaging studies have generally shown normal striatal dopamine transporter (DAT) binding in essential tremor (ET), emerging evidence suggests a partial dopaminergic mechanism in this condition and an epidemiological link between ET and Parkinson's disease (PD). This link seems particularly meaningful in ET patients with additional neurological signs, such as slowness of movements, rigidity, or rest tremor (ET+).</p><p><strong>Objectives: </strong>To investigate the potential dopaminergic pathophysiology of ET+ and to compare it to PD.</p><p><strong>Methods: </strong>Fourty-three ET+ patients, 115 PD patients and 40 healthy controls were studied using [¹²³I]FP-CIT SPECT imaging and clinical examinations. A median follow-up of 3.0 years was carried out to confirm the diagnoses. ET+ patients underwent an extended follow-up with a median of 7.7 years (range 4.3-9.8 years). Region-specific binding ratios of striatal DAT binding were compared among the groups and correlated with the MDS-UPDRS motor scores.</p><p><strong>Results: </strong>Bradykinesia scores were negatively associated with posterior putamen DAT binding in both the ET+ and PD groups, with the strongest correlation observed in finger tapping (F = 11.1, β = -0.10, 95%CI -0.16 to -0.04, P = 0.001). In ET+ patients, kinetic tremor asymmetry correlated with posterior putamen DAT binding asymmetry (r = 0.33, P = 0.043), indicating a relationship between more severe tremor and subtle contralateral DAT loss.</p><p><strong>Conclusions: </strong>In ET+, subtle increases in bradykinesia scores correlate with striatal dopaminergic dysfunction, while kinetic tremor asymmetry is associated with hemispheric DAT binding asymmetry. These findings support the concept of partial dopaminergic involvement in the pathophysiology of ET+.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142877462","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 Dysfunction Bears on the Clinical-Biological Profile of Parkinson's Disease.","authors":"Jacopo Bissacco, Roberta Bovenzi, Matteo Conti, Clara Simonetta, Davide Mascioli, Rocco Cerroni, Giulia Maria Sancesario, Piergiorgio Grillo, Mariangela Pierantozzi, Alessandro Stefani, Nicola Biagio Mercuri, Marta Camacho, Tommaso Schirinzi","doi":"10.1002/mdc3.14319","DOIUrl":"https://doi.org/10.1002/mdc3.14319","url":null,"abstract":"<p><strong>Background: </strong>Gastrointestinal dysfunction (GID) accompanies any phase of Parkinson's disease (PD), underlying differential clinical-pathological trajectories.</p><p><strong>Objective: </strong>To investigate associations between GID and peripheral immune or neurodegeneration-related markers in PD.</p><p><strong>Methods: </strong>One-hundred-and-fourteen patients (n = 55 de novo, DN; n = 59 middle-advanced, MA) completed the Gastrointestinal Dysfunction Scale for PD (GIDS-PD), and other motor and non-motor scales; paired measurement of amyloid-β42, amyloid-β42β/β40, total-tau, phosphorylated-181-tau, total α-synuclein CSF levels, albumin ratio, and peripheral blood cell count were collected. Group and correlation analyses were performed.</p><p><strong>Results: </strong>MA patients had greater GID than DN. GIDS-PD scores directly correlated with MDS-UPDRS-III and non-motor scores in both groups, although more in DN. GIDS-PD scores were directly associated with α-synuclein and inversely with lymphocytes only in DN; conversely, they were positively associated with tau proteins and albumin ratio, and negatively with amyloid-β-peptides in both groups.</p><p><strong>Conclusions: </strong>The burden of GID increases along the PD course with associated stage-specific clinical-biological patterns.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864902","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":"Management of Osteoporosis in Parkinson's Disease: A Systematic Review of Clinical Practice Guidelines.","authors":"Mícheál Ó Breasail, Karan P Singh, Fiona E Lithander, Sze-Ee Soh, Victor McConvey, Jennifer McGinley, Meg E Morris, Peter R Ebeling, Jesse Zanker, Ayse Zengin","doi":"10.1002/mdc3.14311","DOIUrl":"https://doi.org/10.1002/mdc3.14311","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is the fastest-growing neurological disorder globally. Defining features include tremor, muscular rigidity, bradykinesia, and postural instability, which in combination with nonmotor symptoms such as cognitive impairment and orthostatic hypotension increase the risk of falls. Along with low bone mineral density, fracture risk is high in PD.</p><p><strong>Objectives: </strong>The aims were to identify and appraise clinical practice guidelines, consensus statements, and treatment algorithms containing recommendations for bone health in people with PD (PwP).</p><p><strong>Methods: </strong>We systematically searched 4 electroninc databases (MEDLINE, Embase, Emcare, and Web of Science) (n = 78), in addition to the websites of organizations, societies, and professional bodies focused on PD or osteoporosis (n = 28), up to April 22, 2024.</p><p><strong>Results: </strong>After duplicate removal, screening, and full-text review, 6 records were included. Included records were appraised using the AGREE II (Appraisal of Guidelines for Research and Evaluation) tool. All records recognized bone health as a concern in PD, yet recommendations for fracture-risk screening were inconsistent. Two of six records grouped PD under the broad category of neurological diseases. The acceptability and tolerance of anti-osteoporosis medications in PwP was discussed only in 1 record, which incorporated national osteoporosis guidelines into a PD-specific treatment algorithm.</p><p><strong>Conclusions: </strong>This review highlights that despite the documented high fracture rates of PwP, health professionals do not always have adequate resources to support them when considering how to manage osteoporosis. Osteoporosis screening and management needs to be incorporated into PD treatment guidelines, and equally providing specific recommendations for PwP related to bone health in national osteoporosis guidelines should be a priority given the high burden of fracture in the patient population.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864904","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":"Parasympathetic Dysfunction Prevails in GBA1-Associated Parkinson's Disease.","authors":"Tiziana De Santis, Antoniangela Cocco, Paolo Castiglioni, Maurizio Ferrarin, Rossana Mineri, Emanuela Morenghi, Micol Avenali, Alberto Albanese","doi":"10.1002/mdc3.14314","DOIUrl":"https://doi.org/10.1002/mdc3.14314","url":null,"abstract":"<p><strong>Background: </strong>The role played by sympathetic and parasympathetic autonomic branches in patients with Parkinson's disease carrying variants in the GBA1 gene (GBA-PD) is still elusive.</p><p><strong>Objectives: </strong>To characterize cardiovascular autonomic function in GBA-PD and I-PD patients with early and mid-stage disease.</p><p><strong>Methods: </strong>These assessments were performed: cardiovascular autonomic tests, analysis of heart rate and blood pressure variability, cardiac noradrenergic imaging. The frequency and severity of autonomic symptoms were comparatively assessed with the SCOPA-AUT questionnaire.</p><p><strong>Results: </strong>Compared to the I-PD cohort, GBA-PD patients displayed an increased burden of autonomic symptoms. Autonomic tests revealed worse parasympathetic scores in GBA-PD while sympathetic indexes and the degree of cardiac sympathetic binding were comparable in the two groups. Heart rate variability indexes also revealed lower vagal modulation in the GBA-PD group.</p><p><strong>Conclusions: </strong>The cardiovascular autonomic profile in GBA PD is characterized by a prominent cardiovagal dysfunction compared to I-PD.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864906","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":"Hereditary Truncal Dystonia Associated with ANO3 Gene Variant.","authors":"Sofia Mônaco Gama, João Vitor Gerdulli Tamanini, João Bosco Oliveira, Thiago Yoshinaga Tonholo Silva, Orlando Graziani Povoas Barsottini, José Luiz Pedroso","doi":"10.1002/mdc3.14308","DOIUrl":"https://doi.org/10.1002/mdc3.14308","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847124","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":"How Women and Men with Parkinson's Disease Approach Decision-Making for Deep Brain Stimulation Surgery.","authors":"Michelle E Fullard, Ashley Dafoe, Erika Shelton, Drew S Kern, Dan D Matlock, Megan A Morris","doi":"10.1002/mdc3.14284","DOIUrl":"https://doi.org/10.1002/mdc3.14284","url":null,"abstract":"<p><strong>Background: </strong>Women make up only 23% to 30% of recipients for deep brain stimulation (DBS) surgery for Parkinson's disease (PD), a discrepancy that is not accounted for by differences in disease incidence. One of the many factors that may contribute to this gap includes gender differences in decision-making.</p><p><strong>Objective: </strong>The aim was to explore how women and men approach the decision for DBS in terms of informational needs, weighing risks and benefits, and decision-making.</p><p><strong>Methods: </strong>Semistructured interviews were conducted with 33 participants with PD who had undergone DBS evaluation within the past 3 years. Data were analyzed using content analysis.</p><p><strong>Results: </strong>Sixteen women and 17 men participated in interviews. We identified 4 key themes. First, information sources were similar between women and men, and they valued hearing personal experiences. Second, the motivations for DBS surgery were often very personal. Third, the decision-making process occurred over time, sometimes years. Fourth, although many expressed fear of brain surgery, trust in the surgeon helped many overcome this fear. Women overall had less support than men during decision-making and after surgery. Women also placed greater value on talking to other women who had undergone DBS, although they had a hard time finding these women. Men, on the contrary, were less often worried about support and valued numerical information when weighing risks and benefits.</p><p><strong>Conclusion: </strong>We found gender differences in information needs, support, motivating factors, and how patients weighed risks and benefits. These differences can be used to inform educational tools and counseling for DBS.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847125","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 Effect of Exercise on Nonmotor Symptoms in Parkinson's Disease with Deep Brain Stimulation.","authors":"Sana Aslam, Chengcheng Hu, Amy W Amara, Markey Olson, Sydney Felsen, Francisco Ponce, Holly A Shill","doi":"10.1002/mdc3.14310","DOIUrl":"https://doi.org/10.1002/mdc3.14310","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847128","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}