Movement Disorders最新文献

{"title":"Localized Iron Deposition and Shape Changes of Cerebellar Dentate in Progressive Supranuclear Palsy Clinical Variants.","authors":"Austin C Wang,Hossam Youssef,Farwa Ali,Keith A Josephs,Jennifer L Whitwell,Ryota Satoh","doi":"10.1002/mds.70204","DOIUrl":"https://doi.org/10.1002/mds.70204","url":null,"abstract":"BACKGROUNDThe cerebellar dentate is a known site of iron accumulation and tau deposition in progressive supranuclear palsy (PSP); however, detailed iron distribution and localized volume and shape changes remain unclear across PSP clinical variants.OBJECTIVEThe study aimed to clarify details about regional susceptibility distribution, volume, and shape deformation in the cerebellar dentate across PSP clinical variants.METHODSSixty-seven PSP patients, including 31 PSP-Richardson syndrome, 12 PSP-parkinsonism, 10 PSP-progressive gait freezing, and 14 PSP-cortical variants (PSP-frontal, PSP-speech/language, and PSP-corticobasal syndrome), and 31 healthy controls underwent 3 Tesla magnetic resonance imaging to reconstruct quantitative susceptibility maps. Manual dentate segmentation was performed to extract magnetic susceptibility and volume adjusted for total intracranial volume. Shape deformation was assessed using Deformetrica atlas construction. Group comparisons were evaluated with Kruskal-Wallis tests and receiver operating characteristic analysis.RESULTSPatients with PSP-Richardson syndrome, PSP-parkinsonism, and PSP-cortical variants showed significantly increased dentate susceptibility compared with controls (P < 0.05). Patients with PSP-progressive gait freezing showed no significant susceptibility differences. Volume loss was most prominent in PSP-cortical variants, bilaterally, and PSP-Richardson syndrome, left hemisphere only (P < 0.05). Shape analysis revealed subregion-specific deformation patterns, especially in the anterior and posterior deformation in PSP-progressive gait freezing and the ventroanterior deformation in PSP-cortical variants.CONCLUSIONSThe PSP clinical variants had different patterns of susceptibility, volume, and shape metrics, reflecting distinct neurodegenerative patterns of the cerebellar dentate. These findings contribute to our understanding of the neurobiology of PSP and may help to improve phenotypic differentiation of PSP clinical variants. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"10 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electrophysiological Evidence of Visual Dysfunction in SCA3: PERG/PVEP as Novel Biomarkers for Ataxia Severity and Cognitive Decline.","authors":"Feixue Liu,Hao Wang,Fanzhong Zou,Gang Wang,Sha Li,Peiling Ou,Yonghua Huang,Yanling Long,Xi Chen,Linbo He,Min Wang,Jian Wang,Chen Liu","doi":"10.1002/mds.70195","DOIUrl":"https://doi.org/10.1002/mds.70195","url":null,"abstract":"BACKGROUNDSpinocerebellar ataxia type 3 (SCA3), a rare autosomal dominant neurodegenerative disease, consistently exhibits visual abnormalities. Retinal functional and morphological abnormalities present in SCA3 patients may serve as clinically relevant biomarkers.OBJECTIVEThe aim of this study was to investigate structure-based functional alterations in SCA3 to identify potential biomarkers.METHODSThis study analyzed 98 eyes from 52 SCA3 patients and 130 eyes from 65 controls using pattern visual evoked potentials (PVEP), pattern electroretinography (PERG), and spectral-domain optical coherence tomography (SD-OCT). Electrophysiological parameters and retinal morphological parameters were measured and correlated with clinical variables (age, disease duration, CAG repeats) and scales, including the Scale for the Assessment and Rating of Ataxia (SARA), the International Cooperative Ataxia Rating Scale (ICARS), the Hamilton Depression Scale (HAMD), and the Montreal Cognitive Assessment (MoCA). Statistical analyses employed generalized estimating equations (GEE) for longitudinal data and bootstrapped Spearman's correlation with false discovery rate (FDR) adjustment. Receiver operating characteristic (ROC) curves evaluated diagnostic accuracy for SCA3.RESULTSIn SCA3 patients, PERG and PVEP amplitudes are markedly reduced with significant prolongation in PVEP latency. Significant thinning was observed in all peripapillary retinal nerve fiber layer (pRNFL) sectors and macular layers. Retinal function and structure significantly correlated with clinical scales (SARA, ICARS, MoCA). Retinal PERG amplitudes and structure showed negative correlations with disease duration. PVEP latency negatively correlated with CAG repeats. Combined retinal functional and structural parameters demonstrated superior diagnostic accuracy in SCA3.CONCLUSIONSWe demonstrate selective retinal functional and structural impairment in SCA3, with visual electrophysiological abnormalities and SD-OCT morphological thinning significantly correlated with clinical phenotypes. Integrated with retinal functional and structural assessments, this approach provides a novel multimodal diagnostic framework and a more sensitive biomarker for SCA3 natural history studies and clinical trials. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"63 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multimodal Imaging Investigation of the Dentato-Thalamo-Cortical Pathway in Friedreich's Ataxia.","authors":"Yinghua Jing,Imis Dogan,Ravi Dadsena,Jennifer Faber,Jörg B Schulz,Kathrin Reetz,Sandro Romanzetti, ","doi":"10.1002/mds.70179","DOIUrl":"https://doi.org/10.1002/mds.70179","url":null,"abstract":"BACKGROUNDFriedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato-thalamo-cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.OBJECTIVEThe aim was to quantify regional alterations in structure, connectivity, function, and neurometabolism along the DTC pathway in FRDA patients using multimodal magnetic resonance imaging (MRI).METHODSTwenty-two individuals with FRDA and 22 healthy controls underwent a brain MRI. Volumetry, amplitude of low-frequency fluctuation of resting-state functional MRI data, and phosphorus MR spectroscopy were used to assess key regional changes along the DTC pathway. Diffusion tractography and dynamic causal model (DCM) were adopted to investigate microstructural integrity and effective connectivity of the DTC pathway, respectively. Associations with clinical parameters, including ataxia severity, were also tested.RESULTSCompared to controls, FRDA patients exhibited reduced volumes and adenosine triphosphate levels in the bilateral dentate nuclei and right motor cortex, as well as elevated glycerophosphoethanolamine levels in thalami and the left motor cortex. In FRDA patients, fractional anisotropy was decreased in the dentatothalamic sections of the DTC tract and correlated negatively with ataxia severity. Additionally, DCM revealed elevated excitatory connectivity from the right thalamus to the left dentate nucleus in FRDA patients, showing a U-shaped association with ataxia scores.CONCLUSIONSThis study provides multimodal imaging evidence for comprehensive alterations along the DTC pathway in FRDA, including first insights into energy metabolism and effective connectivity. A better pathophysiological understanding of early metabolic and dynamic pathway disruptions might inform potential neuromodulatory interventions targeting this pathway. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"101 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146014998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Update on Medical Treatments for Essential Tremor: An International Parkinson and Movement Disorder Society Evidence-Based Medicine Review.","authors":"Deepa Dash,Verónica Bruno,Petra Schwingenschuh,Kelly E Lyons,Eng-King Tan,Claudia M Testa,Santiago Perez Lloret,Bettina Balint,João Costa,Rob M A de Bie,Monty A Silverdale,Ai Huey Tan,Tiago A Mestre","doi":"10.1002/mds.70184","DOIUrl":"https://doi.org/10.1002/mds.70184","url":null,"abstract":"BACKGROUNDThe first International Parkinson and Movement Disorder Society Evidence-Based Medicine (MDS-EBM) review for essential tremor (ET) was published in 2019; since then, the modified Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology was adopted by MDS, and new evidence exists.OBJECTIVEThe objective of this study was to update EBM conclusions for medical treatments of ET with a focus on longer follow-up periods.METHODSA systematic literature search was conducted for randomized controlled trials (RCTs) investigating medical interventions for ET with a minimum 1-month follow-up, with subsequent appraisal of data using an MDS-EBM framework.RESULTSThirty-one RCTs were included evaluating 16 interventions against placebo. Nine interventions were evaluated by more than one RCT: alprazolam, botulinum toxin type A (BtA), levetiracetam, phenobarbitone, pregabalin, primidone, propranolol, topiramate, and trazodone. The remainder were studied in a single RCT (acetazolamide, flunarizine, gabapentin, mirtazapine, perampanel, progabide, and zonisamide). Trial sample size ranged from 5 to 117 participants, and study duration ranged from 4 to 28 weeks. More than one RCT documented improvement in tremor severity for propranolol, primidone, topiramate, and BtA. Using the modified GRADE framework, we found significant methodological shortcomings in the studies, resulting in insufficient evidence for all interventions. Concerns about risk of bias and imprecision commonly limited the ability to make stronger recommendations for these interventions.CONCLUSIONSCurrent evidence from RCTs with at least 1 month of follow-up is insufficient to confidently support the efficacy of available medical treatments for ET. There is a need for longer, higher-quality clinical trials to improve treatment recommendations and guide decision-making for clinicians and patients with ET. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"231 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146005072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients.","authors":"Dajana Grossmann,Adrian Spranger,Emily Fischer,Johanna W Schubarth,Jenny Leopold,Hannes Glaß,Sebastian Klicker,My Uyen Dang Thi,Anna Elisabeth Bartalis,Andreas Hermann,Kevin Peikert","doi":"10.1002/mds.70177","DOIUrl":"https://doi.org/10.1002/mds.70177","url":null,"abstract":"BACKGROUNDMembrane contact sites are crucial for the exchange of ions or lipids and thus are critical for the function and maintenance of organelles. VPS13A is a membrane-residing, bridge-like protein connecting two membranes to enable bulk lipid transfer. Loss-of-function mutations in the VPS13A gene cause VPS13A disease. Previous studies showed alterations of lipid transfer and impaired calcium homeostasis.OBJECTIVEAlthough membrane contact sites are becoming increasingly important in neurodegenerative disease research, their contribution to cellular homeostasis is still unclear. We attempted to investigate the consequences of loss of VPS13A function on membrane contact sites and related mechanisms in the context of VPS13A disease.METHODSVPS13A-deficient patient-derived fibroblasts were compared with fibroblasts from healthy donors. Specific dyes, labeled fatty acids, and a specific marker for mitochondrial-endoplasmic reticulum contact sites were used to investigate lipid transfer and distribution in involved organelles. Mitochondrial calcium handling was investigated using the calcium indicator Rhod-2, AM. Images were obtained by super-resolution microscopy using Airyscan2 technology.RESULTSWe observed a general disturbance of membrane contact sites in VPS13A disease, accompanied by a reduction in lipid droplet formation, diminished lipid transfer into mitochondria, and unusual mitochondrial calcium uptake behavior in VPS13A disease fibroblasts.CONCLUSIONSLoss of VPS13A causes alterations beyond an impairment of lipid shuttling, which includes a dysregulation of membrane contact sites as well as impaired mitochondrial calcium handling. Accordingly, our findings contribute significantly to the understanding of mechanisms directly or indirectly linked to the function of VPS13A. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. © 2026 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"85 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145994912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers.","authors":"Julian Agin-Liebes,Alexander Haimovich,Rachel Griep,Nathan Galen Hatcher,Lihang Yao,Cheryl Waters,Shalini Padmanabhan,Roy N Alcalay","doi":"10.1002/mds.70205","DOIUrl":"https://doi.org/10.1002/mds.70205","url":null,"abstract":"BACKGROUNDGBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease. Plasma glucosylsphingosine levels have previously been shown to be higher in GBA1 N409S heterozygous carriers, but its levels in E365K carriers are unknown.OBJECTIVEThe aim was to measure plasma glucosylsphingosine levels in GBA1 N409S, E365K, and L483P heterozygous mutation carriers with and without PD.METHODSGlucosylsphingosine was quantified in plasma from 112 participants using liquid chromatography-tandem mass spectrometry targeted quantification.RESULTSPlasma glucosylsphingosine concentration was significantly higher in N409S (0.59 ng/mL, p = 0.004), E365K (0.59 ng/mL, p = 0.01), and L483P (0.63 ng/mL, p = 0.003) heterozygotes compared to noncarriers (0.45 ng/mL), independent of disease status.CONCLUSIONSElevated plasma glucosylsphingosine confirms reduced glucocerebrosidase function in E365K carriers. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"145 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145994873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contrasting Effects of Deep Brain Stimulation and Intravenous Levodopa on Local Field Potentials.","authors":"Hikaru Kamo,Jackson N Cagle,Kara A Johnson,Joshua K Wong,Genko Oyama,Mai Shimizu,Hirokazu Iwamuro,Atsushi Umemura,Taku Hatano,Masanobu Ito,Nobutaka Hattori,Coralie de Hemptinne","doi":"10.1002/mds.70196","DOIUrl":"https://doi.org/10.1002/mds.70196","url":null,"abstract":"BACKGROUND/OBJECTIVEWithin-patient comparison of intravenous levodopa and subthalamic nucleus deep brain stimulation effects on neural oscillations and motor function in Parkinson's disease (PD).METHODSTwelve patients with advanced PD and bilaterally implanted subthalamic electrodes underwent five treatment conditions: medication off/stimulation off, placebo infusion, medication on/stimulation off, medication off/stimulation on, and medication on/stimulation on. For each condition, bilateral local field potentials were recorded, and motor function was evaluated using the Movement Disorder Society Unified Parkinson's Disease Rating Scale Part III.RESULTSBoth levodopa and stimulation improved motor scores (p < 0.01) and reduced low β activity (13-20 Hz). High β activity (21-30 Hz) decreased only during stimulation (p < 0.01). Finely tuned γ (FTG) oscillations (60-90 Hz) appeared most often during combined therapy (68.2%), with peak frequencies entrained to half the stimulation frequency in 93.3% of electrodes, except under 180 Hz stimulation. During intravenous levodopa infusion, FTG emerged with a median latency of 14.3 minutes, frequently before peak plasma levels, and declined in frequency over time. Changes in FTG power correlated with motor improvement (p < 0.05), whereas placebo had no effect.CONCLUSIONSLevodopa and stimulation exert distinct but complementary effects on oscillatory activity. FTG, rather than β power alone, reflected therapeutic state and was associated with motor improvement without dyskinesia. These findings highlight FTG as a potential biomarker for adaptive stimulation systems in PD. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"5 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145994914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.","authors":"Laia Nou-Fontanet,Claudia Ravelli,Lydie Burglen,Sol Balsells Mejia,Angel Valls-Villalba,Elies Roman Schiffels,Alice Innocenti,Beatriz Villafuerte,Ainara Salazar-Villacorta,Vicente Quiroz,Andrea Sariego Jamardo,Giulia Bonato,Asun Díaz-Gomez,Alexandra Afenjar,Catheline Vilain,Patricia Dumke da Silva Möller,Deyanira Garcia-Navas Nuñez,Magdalena Krygier,Maria Judit Molnar,Łukasz Milanowski,Katrin Õunap,Micaela Pauni,Patricia Vega,Raphael Borie,Milena Villamil-Osorio,Sanem Yilmaz,Dénes Zádori,Marta Zawadzka,Tahsin Stefan Barakat,Sebastian Neuens,Daniel de Natera-de Benito,Dídac Casas-Alba,Luca Soliani,Claudio M de Gusmao,Giacomo Garone,Nicola Specchio,Miryam Carecchio,José C Moreno,Francesca Magrinelli,Kailash P Bhatia,Darius Ebrahimi-Fakhari,Claudia Castiglioni,Manju Ann Kurian,João Nuno Carvalho,Roser Pons,Emmanuel Roze,Diane Doummar,Juan Darío Ortigoza-Escobar","doi":"10.1002/mds.70187","DOIUrl":"https://doi.org/10.1002/mds.70187","url":null,"abstract":"BACKGROUNDNKX2-1-related disorders result from heterozygous variants in NKX2-1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype-phenotype relationships remain incompletely defined.OBJECTIVESTo delineate neurological, respiratory, and endocrine features across ages, characterize movement disorder trajectories - particularly chorea - and explore genotype-phenotype associations with clinical relevance.METHODSWe conducted a multicenter, cross-sectional study recruiting participants through referral clinicians and European networks. Standardized clinical and genetic data were captured in an electronic database and analyzed with descriptive and inferential statistics.RESULTSSixty-eight individuals (37 female; median age 16 years, range 2-60 years) were included. Motor delay was the commonest presenting feature (~60%); neonatal respiratory distress syndrome occurred in one-third of cases. The brain-lung-thyroid triad was present in almost half. Chorea affected over 90% and began in early childhood; it was more frequent with single nucleotide variants than with deletions. Deletions are associated with better gross motor function. Frameshift or nonsense variants showed greater respiratory involvement, and variants in the exon-3 homeobox region were associated with age-related reduction of chorea. Neonatal respiratory distress predicted later respiratory symptoms. Greater abnormal involuntary movement severity correlated with poorer manual and gross motor function. Hypotonia and untreated hypothyroidism are associated with more severe chorea. Psychiatric comorbidity occurred in over one-third of cases, mainly attention-deficit/hyperactivity symptoms.CONCLUSIONSThis largest cohort to date shows early neurological onset, genotype-specific outcomes, and frequent psychiatric comorbidity in NKX2-1-related disorders, refining clinical expectations and supporting genotype-informed diagnosis, counseling, and management. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"30 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145994913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Divergent Cerebello-Cortical Network Responses to Emotional Stress in Myoclonus Dystonia.","authors":"Clément Tarrano,Cécile Galléa,Manon Gomes,Vanessa Brochard,Mathieu Anheim,Christine Tranchant,Stéphane Thobois,David Grabli,Pierre Burbaud,Dominique Gayraud,Virginie Guillet-Pichon,Benoit Beranger,Emmanuelle Apartis,Marie Vidailhet,Emmanuel Roze,Yulia Worbe","doi":"10.1002/mds.70159","DOIUrl":"https://doi.org/10.1002/mds.70159","url":null,"abstract":"BACKGROUNDIn myoclonus dystonia (DYT-SGCE) psychiatric features such as anxiety and depression are frequent comorbidities. The neural mechanisms underlying these negative emotional states in DYT-SGCE remain poorly understood. Task-based functional magnetic resonance imaging (fMRI), by measuring task-evoked functional connectivity during emotion processing, offers mechanistic insight into the pathophysiology of nonmotor features in DYT-SGCE.OBJECTIVEThe aim was to investigate effective connectivity alterations in the neural network associated with the experience of negative emotions in DYT-SGCE. We hypothesized that patients show impaired regulation of negative emotions due to altered connectivity between the nonmotor cerebellum and its associated cortical regions.METHODSDYT-SGCE patients and healthy volunteers (HV) performed an fMRI task involving conscious recall of personal emotional experiences under stressful and neutral-relaxing conditions. An emotional network was identified using data-driven activation maps, and generalized psychophysiological interactions were applied to compare connectivity modulation between conditions across groups.RESULTSTwenty DYT-SGCE patients and 20 HVs were enrolled in the study. DYT-SGCE patients exhibited increased connectivity from the cerebellum to the precuneus, medial prefrontal, and middle temporal cortices during the stressful condition compared to the neutral-relaxing condition. Clinically, DYT-SGCE patients showed higher anxiety scores. Across groups, higher trait of anxiety was associated with further amplification of cerebello-cortical connectivity in these regions, but severity of anxiety was not directly correlated with connectivity in patients. No changes in connectivity or correlations with anxiety were observed for cortico-cerebellar, cerebello-cerebellar, or cortico-cortical connections.CONCLUSIONSThese findings emphasize the role of the cerebellum in emotional regulation dysfunction in DYT-SGCE, which may underlie the patients' psychiatric phenotype. © 2026 International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"59 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145994829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Assessment of RAB32 p.Ser71Arg Variant Prevalence in Parkinson's Disease Across Selected African, European, and South American Cohorts.","authors":"Diana A Olszewska,Alexandra I Soto-Beasley,Allan McCarthy,Catalina Cerquera-Cleves,Irena Rektorova,Fernando Alarcon,Gabriela Jaramillo-Koupermann,Joanna Siuda,Monika Rudzińska-Bar,Aleksandr Pulyk,Katherine Karpinsky,Shamsideen Ogun,Owen A Ross,Tim Lynch,Zbigniew K Wszolek","doi":"10.1002/mds.70175","DOIUrl":"https://doi.org/10.1002/mds.70175","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"30 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145986557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}