Lucy Olson, Sarah Dickens, Jordan L Schultz, Mohit Neema, Peggy C Nopoulos
{"title":"No Evidence of Early Developmental Delay in Juvenile-Onset Huntington's Disease Patients.","authors":"Lucy Olson, Sarah Dickens, Jordan L Schultz, Mohit Neema, Peggy C Nopoulos","doi":"10.1002/mdc3.14287","DOIUrl":"10.1002/mdc3.14287","url":null,"abstract":"<p><strong>Background: </strong>Previous studies suggest that early developmental delay is a common feature of Juvenile-Onset Huntington's disease (JOHD), with highest incidence in those with very high CAG repeats (> 80). However, all reports of developmental delay in JOHD are exclusively based on retrospective review of medical charts. Comprehensive assessment of birth history metrics may provide better insight into the question of early life development in JOHD.</p><p><strong>Objective: </strong>To explore the prevalence of prematurity, birth complications, low birth weight and developmental delay in patients with JOHD in comparison to control participants.</p><p><strong>Methods: </strong>Parents of patients with JOHD and gene-non-expanded (GNE) control participants from Kids-HD (n = 104) and Kids-JOHD (n = 34, 24% with CAG > 80) studies completed a comprehensive birth history questionnaire. Answers focused on prematurity, birth complications, and birth weight, and along with reports of early developmental milestones, were compared between groups.</p><p><strong>Results: </strong>There were no statistically significant differences in prematurity, birth weights, birth complications, or motor and verbal developmental milestones between JOHD patients and GNE controls (all P values > 0.1). Furthermore, stratifying JOHD patients by CAG expansion (low vs. high) also showed no significant differences (GNE vs. low or GNE vs. high).</p><p><strong>Conclusions: </strong>These findings support the notion that JOHD does not manifest as developmental delay before motor symptom onset and highlight a new framework to understand the course and nature of the disease.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"346-352"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791997","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}
Emilio Fernández-Espejo, Fernando Rodríguez de Fonseca
{"title":"Association of Hemispheric Asymmetry of Dopamine-Transporter Binding with Risk of Parkinsonian Depression.","authors":"Emilio Fernández-Espejo, Fernando Rodríguez de Fonseca","doi":"10.1002/mdc3.14276","DOIUrl":"10.1002/mdc3.14276","url":null,"abstract":"<p><strong>Background: </strong>Depression is the most common psychiatric disorder diagnosed in patients with Parkinson's disease (PD). A direct role in PD depression for loss of dopaminergic terminals and dopamine-transporter (DAT) expression in the striatum is revealed by many studies.</p><p><strong>Objectives: </strong>The objective was to discern the relationship between DAT neuroimaging and risk of depression in PD.</p><p><strong>Methods: </strong>One hundred and ninety-eight PD patients (101 with depression, 97 without depression) were evaluated using an extensive protocol from 2015 to 2023. DAT availability at striatal terminals was assessed with single-photon emission computed tomography with <sup>123</sup>I-Ioflupane. Specific binding ratio (SBR) of <sup>123</sup>I-Ioflupane and the whole striatum asymmetry index (SASI) were calculated. Data were analyzed with univariate/multivariate models as well as receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>A logistic regression model adjusting for confounding risk factors of depression indicates that SASI and PD duration are associated with the odds of having parkinsonian depression. SASI is the strongest predictor of risk of parkinsonian depression. Following ROC analysis, SASI is found to be an accurate factor for detecting parkinsonian depression because a cutoff value of 3.4895 of SASI shows good accuracy (0.813), sensitivity (81.1%), and specificity (80%). Higher SASI is also linked to more disease-related limitations in activities of daily living.</p><p><strong>Conclusion: </strong>The whole SASI is the strongest predictor of risk of parkinsonian depression. The findings could be valuable in evaluating depression in PD patients.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"302-312"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676195","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}
{"title":"The Dopamine Dancer: The Value of Holistic Autotherapy in Parkinson's Disease.","authors":"Anne Hellevik, Karin Wirdefeldt, A J Lees","doi":"10.1002/mdc3.14166","DOIUrl":"10.1002/mdc3.14166","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"375-379"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141875406","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}
Tiziana De Santis, Antoniangela Cocco, Paolo Castiglioni, Maurizio Ferrarin, Rossana Mineri, Emanuela Morenghi, Micol Avenali, Alberto Albanese
{"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":"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":"364-370"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952954/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Khadija Saghir, Tina Mainka, Lukas L Goede, Johannes Achtzehn, Carolina Gorodetsky, Christos Ganos
{"title":"Prominent Head and Arm Tremor in Late-Onset Pelizaeus-Merzbacher-Like Disease 1.","authors":"Khadija Saghir, Tina Mainka, Lukas L Goede, Johannes Achtzehn, Carolina Gorodetsky, Christos Ganos","doi":"10.1002/mdc3.14320","DOIUrl":"10.1002/mdc3.14320","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"380-382"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932389","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}
Zhe Yu, Rongfei Wang, Shengyuan Yu, Xiangqing Wang
{"title":"Ears of the Lynx on Neuroimaging in a Patient with COQ4-Associated Hereditary Spastic Paraplegia.","authors":"Zhe Yu, Rongfei Wang, Shengyuan Yu, Xiangqing Wang","doi":"10.1002/mdc3.14282","DOIUrl":"10.1002/mdc3.14282","url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"386-388"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751349","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}
Yasamin Mahjoub, Natalia Szejko, Liu Shi Gan, Janet Adesewa Adeoti, Michael A Nitsche, Carmelo M Vicario, Tamara M Pringsheim, Davide Martino
{"title":"Randomized Controlled Trial of Transcranial Direct Current Stimulation over the Supplementary Motor Area in Tourette Syndrome.","authors":"Yasamin Mahjoub, Natalia Szejko, Liu Shi Gan, Janet Adesewa Adeoti, Michael A Nitsche, Carmelo M Vicario, Tamara M Pringsheim, Davide Martino","doi":"10.1002/mdc3.14285","DOIUrl":"10.1002/mdc3.14285","url":null,"abstract":"<p><strong>Background: </strong>Transcranial direct current stimulation (tDCS) over the supplementary motor area (SMA) has shown promise in Tourette syndrome (TS), but previous studies were limited in size and stimulation duration.</p><p><strong>Objective: </strong>The aim was to explore the efficacy and safety of multiple sessions of cathodal tDCS over the bilateral SMA on tic severity in TS.</p><p><strong>Methods: </strong>A double-blind, randomized, sham-controlled trial 1 mA cathodal tDCS over bilateral SMA was performed in participants with TS older than 16 years. The intervention involved two 20-min periods of stimulation with either sham or active tDCS per day, over 5 consecutive days, during which participants actively suppressed tics. Tic severity was measured using the Yale Global Tic Severity Scale Total Tic Severity (YGTSS-TTS, primary outcome) score at baseline, day 5 (visit 5), and 1 week later (visit 6). Questionnaires focusing on comorbidities were performed at baseline and visit 6.</p><p><strong>Results: </strong>Twenty-four participants were randomly assigned (12 active, 12 sham; 8 women; median age: 26). We observed a significant effect of visit on YGTSS-TSS, but no significant effect of treatment or treatment × visit interaction emerged. In contrast, a statistically significant effect of the treatment × visit interaction was observed for the motor tic subscore, with significantly larger improvement in the active arm. Furthermore, we detected a significantly larger decrease in premonitory urge intensity at visit 6 after active stimulation. No effect was detected on severity of comorbidities.</p><p><strong>Conclusions: </strong>This preliminary study suggests that bilateral tDCS over the SMA provides small, but significant benefits in reducing motor tic severity in TS.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"313-324"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755492","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}
Anna Latorre, Christos Ganos, Masashi Hamada, Nicolas Phielipp, Lorenzo Rocchi, Shabbir Merchant, Marina A Tijssen, Sterre van der Veen, Robert Chen
{"title":"Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the MDS Clinical Neurophysiology Study Group.","authors":"Anna Latorre, Christos Ganos, Masashi Hamada, Nicolas Phielipp, Lorenzo Rocchi, Shabbir Merchant, Marina A Tijssen, Sterre van der Veen, Robert Chen","doi":"10.1002/mdc3.14306","DOIUrl":"10.1002/mdc3.14306","url":null,"abstract":"<p><strong>Background: </strong>Myoclonus and other jerky movement disorders are hyperkinetic disorders, the diagnosis of which heavily relies on clinical neurophysiological testing. However, formal diagnostic criteria are lacking, and recently the utility and reliability of these tests have been questioned.</p><p><strong>Objective: </strong>The aim of this review was to assess the utilization of clinical neurophysiology testing to identify possible gaps and boundaries that might guide the development of new methods for a more precise diagnosis and in-depth understanding of myoclonus.</p><p><strong>Methods: </strong>We reviewed electrophysiological features of cortical myoclonus, subcortical myoclonus (ie, myoclonus associated with dystonia, brainstem myoclonus), excessive startle reflex, spinal myoclonus (ie, spinal segmental and propriospinal myoclonus), peripheral myoclonus and mimics of myoclonus of peripheral origin (hemifacial spasm, minipolymyoclonus, myokymia), functional jerky movements, chorea, and tics.</p><p><strong>Results: </strong>Electrophysiological features that support the recognition of myoclonus subtypes, such as muscle burst duration, muscle pattern of activation, measures of cortical excitability, or movement-related cortical potentials, have been identified. These significantly contribute to the diagnosis of jerky movement disorders, but their reliability is uncertain. Despite the significant advancements, several unresolved questions persist. Factors contributing to this include the absence of systematic neurophysiological assessment and standardized methods, alongside the limited number of patients investigated using these techniques.</p><p><strong>Conclusion: </strong>Although clinical neurophysiology remains the \"gold standard\" for defining and diagnosing myoclonus, our review highlighted the need to enhance the quality and reliability of neurophysiological testing in jerky movement disorders. Further studies including larger cohorts of patients recruited from different centers, employing standardized and optimized electrophysiological techniques, are warranted.</p>","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":"272-284"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847123","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}