Movement Disorders Clinical Practice最新文献

{"title":"Vitamin C Deficiency Presenting with Progressive Gait Difficulty, Myopathy, and Movement Disorder in a Toddler.","authors":"Vanessa Hwee Ling Ng, Duncan Wilson, Christina Miteff, Gopinath M Subramanian, Robert Smith, Shekeeb S Mohammad","doi":"10.1002/mdc3.70184","DOIUrl":"https://doi.org/10.1002/mdc3.70184","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302569","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":"Unilateral Painless Legs and Moving Toes Syndrome with Bilateral Tarlov Cysts.","authors":"Neeraj Balaini, Thejus Bhaskar, Manu Santhappan Girija, Asha Kishore","doi":"10.1002/mdc3.70185","DOIUrl":"https://doi.org/10.1002/mdc3.70185","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302568","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":"Voided Percentage Is More Useful Than Post-Void Residuals in Differentiating Multiple System Atrophy from Parkinson's Disease.","authors":"Tatsuya Yamamoto, Ryuji Sakakibara, Tomoyuki Uchiyama, Satoshi Kuwabara","doi":"10.1002/mdc3.70179","DOIUrl":"https://doi.org/10.1002/mdc3.70179","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302570","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":"Tics as a Presenting Symptom in Catatonia.","authors":"Lindsey M Vogt, Nahid Iseyas, Ashley Warnock, Elia Abi-Jaoude","doi":"10.1002/mdc3.70177","DOIUrl":"https://doi.org/10.1002/mdc3.70177","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285532","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":"Differential Effects of Levodopa and Stimulation on Post-Surgery Freezing of Gait in Subthalamic Nucleus Deep Brain Stimulation Parkinson's Disease Patients: A Clinical and Kinematic Analysis.","authors":"Raquel Barbosa, Paulo Bastos, Patrícia Pita Lobo, Catarina Correia Rodrigues, Anabela Valadas, Leonor Correia Guedes, Beatriz Mano, Sara Alberto, Vitor Paixão, Mário Miguel Rosa, Ricardo Matias, Daniel Martins, Marcelo Mendonça, Miguel Coelho","doi":"10.1002/mdc3.70170","DOIUrl":"https://doi.org/10.1002/mdc3.70170","url":null,"abstract":"<p><strong>Background: </strong>The long-term efficacy of high-frequency subthalamic nucleus deep brain stimulation (STN-DBS) on freezing of gait (FOG) remains unclear. We aimed to study the mechanism and optimal therapeutic approach to long-term post-surgery FOG.</p><p><strong>Objective: </strong>The aim was to assess the mechanism and optimal therapeutic approach to long-term post-surgery FOG.</p><p><strong>Methods: </strong>Seventeen Parkinson's disease (PD) STN-DBS patients with a FOG score (item 3.11) ≥2 in the MedON/StimON condition were evaluated under 5 experimental conditions, including a low-frequency (60 Hz) condition maintaining the same total energy delivered. In each condition, gait and FOG episodes (#FOG) were assessed using clinical (eg, a 3 × 14-m Stand-Walk-Sit Test) and kinematic data from inertial measurement units (IMU).</p><p><strong>Results: </strong>Compared to MedOFF/StimOFF, #FOG significantly decreased in the MedON/StimON 130-Hz condition. Either stimulation or levodopa (LD) (MedOFF/StimON or MedON/StimOFF) also significantly reduced #FOG and Stand-Walk-Sit Test (SWS) time compared to MedOFF/StimOFF. No significant difference in #FOG episodes or SWS time was found between 130 and 60 Hz, though 60-Hz stimulation had lower axial scores. Individual responses to LD or stimulation varied: (1) 3 patients improved #FOG with LD but worsened with stimulation, whereas 5 exhibited the reverse; (2) in 9 patients, low-frequency stimulation outperformed high-frequency stimulation in reducing #FOG. Gait variability was the strongest kinematic dimension associated with FOG, with severity accurately identified via a neural network trained on sensor data.</p><p><strong>Conclusion: </strong>Post-DBS FOG in the best-functional state is largely therapy resistant, partially improved by stimulation and medication. Individual variability in responses to LD and stimulation underscores the need to determine FOG circuit mechanisms, as treatment remains an unmet clinical need.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275403","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":"ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.","authors":"Alice Innocenti, Emmanuel Roze, Florence Riant, Marie-Céline François-Heude, Bérénice Lecardonnel, Giacomo Garone, Maxime Colmard, Eline Chauvet-Piat, Anne-Cécile Chaux, Marie-Aude Spitz, Beatrice Desnous, Catherine Sarret, Philippe Damier, Thomas Wirth, Mathieu Anheim, Emilie Retailleau, Estelle Conabady, Caroline Dubacq, Oriane Trouillard, Aurélie Méneret, Agathe Roubertie","doi":"10.1002/mdc3.70175","DOIUrl":"https://doi.org/10.1002/mdc3.70175","url":null,"abstract":"<p><strong>Background: </strong>An increasing number of ADCY5-mosaic patients, seemingly with a milder phenotype, are being identified. However, an in-depth assessment of their clinical characteristics is lacking.</p><p><strong>Cases: </strong>We collected and analyzed data from 12 consecutive ADCY5-mosaic patients diagnosed at our center and 7 cases from the literature; 63% of the patients presented with a baseline hyperkinetic motor disorder with paroxysmal motor exacerbations; 30% had isolated paroxysmal dyskinesias (PxD). Caffeine treatment was highly effective. Developmental delay was observed in 5 patients and especially in those with persistent motor symptoms. PxD were the initial motor symptom in 70% of cases.</p><p><strong>Conclusions: </strong>ADCY5-mosaic carriers may have the same phenotypic spectrum as non-mosaic carriers but with a milder clinical presentation. Isolated PxD with onset in infancy are a red flag for ADCY5-mosaic variants. Particular attention should be paid when genetic analysis of patients with this phenotype is conducted as mosaicism can be easily missed.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275400","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":"Changes in Gait Speed Vary Widely after the Use of Antiparkinson Medication in Persons with Parkinson's Disease.","authors":"Anson B Rosenfeldt, Cielita Lopez-Lennon, Erin Suttman, Amy Elizabeth Jansen, Eric Zimmerman, Courtney Miller, Rachel Lovati, Hubert H Fernandez, Peter B Imrey, Leland E Dibble, Jay L Alberts","doi":"10.1002/mdc3.70169","DOIUrl":"https://doi.org/10.1002/mdc3.70169","url":null,"abstract":"<p><strong>Background: </strong>Antiparkinson medications are effective in improving Parkinson's disease (PD) motor symptoms such as bradykinesia, tremor, and rigidity. The impact of antiparkinson medication on gait speed is less clear.</p><p><strong>Objectives: </strong>The primary aim was to determine the effects of antiparkinson medication on gait speed in PD. The secondary aim was to identify characteristics associated with the magnitude of response.</p><p><strong>Methods: </strong>Two hundred fifty individuals with PD completed the Six-Minute Walk Test on and off medication, on separate days, in a randomized order. A paired t-test and linear regression were used to assess on- to off-medication gait speed differences and their relationships with potential correlates. Using previously established values, changes in gait speed were characterized as small (0.06-0.13 m/s), moderate (0.14-0.21 m/s), and large (>0.22 m/s). Corresponding summary characteristics were provided for each classification.</p><p><strong>Results: </strong>Mean (standard deviation) gait speed significantly increased from 1.33 (0.31) to 1.40 (0.28) m/s from off to on medication. Longer disease duration, greater clinical ratings of gait and postural instability, slower functional mobility, and higher levodopa equivalent daily dose were associated with larger increases in gait speed. In sum, 131 (52%) participants experienced no improvement or an improvement that did not meet the threshold for small responder. Of the 119 (48%) participants identified as responders, 60 were classified as small, 28 moderate, and 31 large responders.</p><p><strong>Conclusions: </strong>Overall, gait speed improved with antiparkinson medication; however, individual responses varied. Gait dysfunction in PD may be caused by impairment of multiple neural circuits, some of which are less responsive to antiparkinson medication.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275401","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 in Classical Galactosemia: A Case-Report.","authors":"Nolwenn Billet, Emile Simon, Chloé Laurencin, Adelaide Jaulent, Paul Jaulent, Teodor Danaila, Stephane Prange, Stephane Thobois","doi":"10.1002/mdc3.70180","DOIUrl":"https://doi.org/10.1002/mdc3.70180","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275402","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":"Surface Dynamic Gait EMG Assessment of Paroxysmal Muscle Spasm in Stiff-Person Syndrome.","authors":"Francesco Cavallieri, Lorenzo Cavazzuti, Benedetta Damiano, Giacomo Portaro, Sara Scaltriti, Sara Montepietra, Valentina Fioravanti, Giulia Di Rauso, Andrea Merlo, Isabella Campanini, Franco Valzania","doi":"10.1002/mdc3.70156","DOIUrl":"10.1002/mdc3.70156","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144275404","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":"\"Mini Molar Tooth\" Sign in POLR3B-Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy.","authors":"Luca Marsili, Marcelo A Kauffman, Blanca Talavera de la Esperanza, Zheming Yu, Donald L Gilbert, Alberto J Espay","doi":"10.1002/mdc3.70176","DOIUrl":"https://doi.org/10.1002/mdc3.70176","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266806","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}