Movement Disorders最新文献

{"title":"Changes in Action Tremor in Parkinson's Disease over Time: Clinical and Neuroimaging Correlates.","authors":"Kevin R E van den Berg, Martin E Johansson, Michiel F Dirkx, Bastiaan R Bloem, Rick C Helmich","doi":"10.1002/mds.30081","DOIUrl":"https://doi.org/10.1002/mds.30081","url":null,"abstract":"<p><strong>Background: </strong>The various symptoms of Parkinson's disease (PD) may change differently over time as the disease progresses. Tremor usually manifests early in the disease, but unlike other motor symptoms, its severity may diminish over time. The cerebral mechanisms underlying these symptom-specific longitudinal trajectories are unclear. Previous magnetic resonance imaging (MRI) studies have shown structural changes in brain regions associated with PD tremor, suggesting that structural changes over time may define clinical trajectories.</p><p><strong>Objectives: </strong>The aims were to investigate the longitudinal trajectory of PD tremor in relation to bradykinesia and rigidity, and assess whether tremor progression is related to structural changes in tremor-related areas.</p><p><strong>Methods: </strong>We used data from the Personalized Parkinson Project: a two-year longitudinal study involving 520 PD patients and 60 healthy controls, who were measured twice clinically and with MRI. Mixed-effects models were used to compare tremor, bradykinesia, and rigidity progression; investigate gray matter changes in tremor-related regions (cerebello-thalamo-cortical circuit and pallidum); and calculate associations between symptom severity and brain structure. Associations across the whole brain were included to assess anatomical specificity.</p><p><strong>Results: </strong>Bradykinesia and rigidity worsened over 2 years, whereas tremor behaved differently: resting tremor severity remained stable, whereas postural and kinetic tremor severity decreased. Attenuation of postural and kinetic tremor was associated with, but not restricted to, atrophy in tremor-related areas. Opposite relationships were observed for bradykinesia and rigidity.</p><p><strong>Conclusions: </strong>Action tremor (postural and kinetic) is an early symptom of PD, which reduces with disease progression. Longitudinal brain atrophy correlates with tremor and other motor symptoms in opposite ways. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142826847","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":"All-Cause and Cause-Specific Mortality in Tourette Syndrome and Chronic Tic Disorder.","authors":"Lorena Fernández de la Cruz, Kayoko Isomura, Ralf Kuja-Halkola, Paul Lichtenstein, Henrik Larsson, Zheng Chang, Brian M D'Onofrio, Isabel Brikell, Anna Sidorchuk, David Mataix-Cols","doi":"10.1002/mds.30084","DOIUrl":"https://doi.org/10.1002/mds.30084","url":null,"abstract":"<p><strong>Background: </strong>Tourette syndrome (TS) and chronic tic disorder (CTD) may be associated with an increased risk of mortality, but specific causes of death are poorly understood.</p><p><strong>Objectives: </strong>In this matched cohort and sibling cohort study, we estimated the risk of all-cause and cause-specific mortality in individuals with TS/CTD, compared with unaffected matched individuals and unaffected full siblings.</p><p><strong>Methods: </strong>We identified all individuals diagnosed with TS/CTD in the Swedish National Patient Register who were living in the country between 1973 and 2020 and matched them (1:10) to individuals without TS/CTD from the general population. We also identified their siblings without TS/CTD. All-cause and cause-specific mortality outcomes, based on the International Classification of Diseases codes, were extracted from the Cause of Death Register. Covariates included sociodemographic variables and psychiatric disorders. Risks of mortality were estimated using Cox proportional hazards regression models.</p><p><strong>Results: </strong>We included 10,280 individuals with TS/CTD and 102,800 matched individuals without TS/CTD. In adjusted models, individuals with TS/CTD had an 86% increased hazard of all-cause mortality (hazard ratio: 1.86, 95% confidence interval: 1.65-2.11). The increased risk was observed for both natural (particularly nervous, digestive, and respiratory system diseases) and unnatural causes of death (including suicides and accidents). The sibling comparison showed similar results, indicating that the associations were unlikely to be explained by familial confounding.</p><p><strong>Conclusions: </strong>Individuals with TS/CTD are at increased risk of death due to both natural and unnatural causes. As some of these deaths are potentially preventable, greater focus on the somatic health of individuals with TS/CTD is warranted. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142826843","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":"Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis.","authors":"Kevin Peikert, Adrian Spranger, Gabriel Miltenberger-Miltenyi, Hannes Glaß, Björn Falkenburger, Christian Klose, Donatienne Tyteca, Andreas Hermann","doi":"10.1002/mds.30086","DOIUrl":"https://doi.org/10.1002/mds.30086","url":null,"abstract":"<p><strong>Background: </strong>VPS13A disease is an ultra-rare disorder caused by loss of function mutations in VPS13A characterized by striatal degeneration and by red blood cell (RBC) acanthocytosis. VPS13A is a bridge-like protein mediating lipid transfer at membrane contact sites.</p><p><strong>Objectives: </strong>To assess the lipid composition of patient-derived RBCs.</p><p><strong>Methods: </strong>RBCs collected from 5 VPS13A disease patients and 12 control subjects were analyzed by mass spectrometry (lipidomics).</p><p><strong>Results: </strong>While we found no significant differences in the overall lipid class level, alterations in certain species were detected: phosphatidylethanolamine species with both longer chain length and higher unsaturation were increased in VPS13A disease samples. Specific ceramide, phosphatidylcholine, and sphingomyelin species were also altered.</p><p><strong>Conclusions: </strong>The presented alterations of particular lipid species in RBCs in VPS13A disease may contribute to (1) the understanding of acanthocyte formation, and (2) future biomarker identification. Lipid distribution seems to play a key role in the pathophysiology of VPS13A disease. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811464","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":"Long-Range Temporal Correlations in Electroencephalography for Parkinson's Disease Progression.","authors":"Chih-Hong Lee, Chi-Hung Juan, Hsiang-Han Chen, Jia-Pei Hong, Ting-Wei Liao, Isobel French, Yen-Shi Lo, Yi-Ru Wang, Mei-Ling Cheng, Hsiu-Chuan Wu, Chiung-Mei Chen, Kuo-Hsuan Chang","doi":"10.1002/mds.30074","DOIUrl":"https://doi.org/10.1002/mds.30074","url":null,"abstract":"<p><strong>Background: </strong>Patients with Parkinson's disease (PD) present progressive deterioration in both motor and non-motor manifestations. However, the absence of clinical biomarkers for disease progression hinders clinicians from tailoring treatment strategies effectively.</p><p><strong>Objectives: </strong>To identify electroencephalography (EEG) biomarker that can track disease progression in PD.</p><p><strong>Methods: </strong>A total of 116 patients with PD were initially enrolled, whereas 63 completed 2-year follow-up evaluation. Fifty-eight age- and sex-matched healthy individuals were recruited as the control group. All participants underwent EEG and clinical assessments. Long-range temporal correlations (LRTC) of EEG data were analyzed using the detrended fluctuation analysis.</p><p><strong>Results: </strong>Patients with PD exhibited higher LRTC in left parietal θ oscillations (P = 0.0175) and lower LRTC in centro-parietal γ oscillations (P = 0.0258) compared to controls. LRTC in parietal γ oscillations inversely correlated with changes in Unified Parkinson's Disease Rating Scale (UPDRS) part III scores over 2 years (Spearman ρ = -0.34, P = 0.0082). Increased LRTC in left parietal θ oscillations were associated with rapid motor progression (P = 0.0107), defined as an annual increase in UPDRS part III score ≥3. In cognitive assessments, LRTC in parieto-occipital α oscillations exhibited a positive correlation with changes in Mini-Mental State Examination and Montreal Cognitive Assessment scores over 2 years (Spearman ρ = 0.27-0.38, P = 0.0037-0.0452).</p><p><strong>Conclusions: </strong>LRTC patterns in EEG potentially predict rapid progression of both motor and non-motor manifestations in PD patients, enhancing clinical assessment and understanding of the disease. © 2024 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811458","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":"A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank","authors":"Chris Clarkson, Zhongbo Chen, Clarissa Rocca, Bharati Jadhav, Kristina Ibañez, Mina Ryten, Andrew J. Sharp, Henry Houlden, Arianna Tucci","doi":"10.1002/mds.30073","DOIUrl":"https://doi.org/10.1002/mds.30073","url":null,"abstract":"BackgroundA CAG repeat expansion in <jats:italic>THAP11</jats:italic> was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5′ region and an uninterrupted CAG tract in the 3′ tail.ObjectiveHere, we assess the population distribution of the <jats:italic>THAP11</jats:italic> repeat, and its contribution to neurological diseases.MethodsWe interrogated data from 54,788 individuals from Genomics England, 10,686 patients from the UCL Queen Square Institute of Neurology in‐house database (UCL IoN), and 424,340 individuals from the UK Biobank.ResultsWe identified expanded repeats in four individuals with learning difficulties without ataxia and in three individuals in UK Biobank, one with hereditary ataxia, one with hereditary neuropathy, and one with neurodegenerative disease. We showed a linear relationship between the number of CAA interruptions and overall repeat length.ConclusionsThese results indicate that <jats:italic>THAP11</jats:italic> expansions are rare in the British population and that sequence structures predisposed to expansions may be more common in non‐British ancestries. © 2024 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"37 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142797049","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":"Correction to \"Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy\".","authors":"","doi":"10.1002/mds.30079","DOIUrl":"https://doi.org/10.1002/mds.30079","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142793988","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 ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder","authors":"Zhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, Martin Paucar, Jasmaine Lee, Daniel Nilsson, Hannah Macpherson, Annarita Scardamaglia, Kylie Montgomery, John Hardy, Andrew B. Singleton, Arianna Tucci, Katherine D. Mathews, Ying‐Hui Fu, Martin Engvall, José Laffita‐Mesa, Inger Nennesmo, Anna Wedell, Louis J. Ptáček, Cornelis Blauwendraat, Emil K. Gustavsson, Per Svenningsson, Mina Ryten, Henry Houlden","doi":"10.1002/mds.30077","DOIUrl":"https://doi.org/10.1002/mds.30077","url":null,"abstract":"BackgroundThe identification of a heterozygous exonic GGC repeat expansion in <jats:italic>ZFHX3</jats:italic> underlying spinocerebellar ataxia type 4 (SCA4) has solved a 25‐year diagnostic conundrum. We used adaptive long‐read sequencing to decipher the pathogenic expansion in the index Utah family and an unrelated family from Iowa of Swedish ancestry. Contemporaneous to our discovery, other groups identified the same repeat expansion in affected individuals from Utah, Sweden, and Germany, highlighting the current pivotal time for detection of novel repeat expansion disorders.MethodsGiven that the pathogenic repeat expansion is rare on a population level, we proposed a common ancestor across all families. Here, we employed targeted long‐read sequencing through adaptive sampling, enriching for the chr16q22 region of interest.ResultsUsing phased sequencing results from individuals from Utah, Iowa, and Southern Sweden, we confirmed a common ~2000‐year‐old ancestral haplotype harbouring the repeat expansion.ConclusionThis study provides further insight into the genetic architecture of SCA4. © 2024 The Author(s). <jats:italic>Movement Disorders</jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"17 1","pages":""},"PeriodicalIF":8.6,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142782518","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":"Clinical Outcome Assessments for Spasticity: Review, Critique, and Recommendations.","authors":"Ota Gal, Marjolaine Baude, Thierry Deltombe, Alberto Esquenazi, Jean-Michel Gracies, Martina Hoskovcova, Carmen Rodriguez-Blazquez, Raymond Rosales, Lalith Satkunam, Jörg Wissel, Tiago Mestre, Álvaro Sánchez-Ferro, Matej Skorvanek, Michelle Hyczy de Siqueira Tosin, Robert Jech","doi":"10.1002/mds.30062","DOIUrl":"https://doi.org/10.1002/mds.30062","url":null,"abstract":"<p><strong>Background: </strong>Spasticity is a common feature in patients with disruptions in corticospinal pathways. However, the term is used ambiguously. Here, spasticity is defined as enhanced velocity-dependent stretch reflexes and placed within the context of deforming spastic paresis encompassing other forms of muscle overactivity.</p><p><strong>Objective: </strong>This scoping review aims at evaluating the clinimetric quality of clinical outcome assessments (COAs) for spasticity across different pathologies and to make recommendations for their use.</p><p><strong>Methods: </strong>A literature search was conducted to identify COAs used to assess spasticity. An international expert panel evaluated the measurement properties in the included COAs. Recommendations were based on the MDS-COA program methodology based on three criteria: if the COA was (1) applied to patients with spastic paresis, (2) used by others beyond the developers, and (3) determined to be reliable, valid, and sensitive to change in patients with spasticity.</p><p><strong>Results: </strong>We identified 72 COAs of which 17 clinician-reported outcomes (ClinROs) and 6 patient-reported outcomes (PROs) were reviewed. The Tardieu Scale was the only ClinRO recommended for assessing spasticity. One ClinRO-Composite Spasticity Index-and two PROs-Spasticity 0-10 Numeric Rating Scale and 88-Item Multiple Sclerosis Spasticity Scale-were recommended with caveats. The Ashworth-derived COAs were excluded after evaluation due to their focus on muscle tone rather than spasticity, as defined in this review.</p><p><strong>Conclusions: </strong>The Tardieu Scale is recommended for assessing spasticity, and two PROs are recommended with caveats. Consistent terminology about the various types of muscle overactivity is necessary to facilitate their assessment and treatment. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142764832","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":"Ira Shoulson, MD (1946-2024).","authors":"David G Standaert, Karl D Kieburtz","doi":"10.1002/mds.30078","DOIUrl":"https://doi.org/10.1002/mds.30078","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142764880","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":"Sustained Clinical Benefit of Adaptive Deep Brain Stimulation in Parkinson's Disease Using Gamma Oscillations: A Case Report.","authors":"Stephanie Cernera, Carina R Oehrn, Lauren H Hammer, Maria Shcherbakova, Jiaang Yao, Amelia Hahn, Sarah Wang, Jill L Ostrem, Simon Little, Philip A Starr","doi":"10.1002/mds.30076","DOIUrl":"https://doi.org/10.1002/mds.30076","url":null,"abstract":"<p><strong>Background: </strong>Adaptive deep brain stimulation (aDBS) dynamically adjusts stimulation parameters according to patient needs. We recently showed that chronic aDBS utilizing invasive neural signals for feedback control is superior to conventional DBS (cDBS) during normal daily life in a 2-month trial. The stability of aDBS over longer periods remains unclear.</p><p><strong>Objectives: </strong>To assess the effects of aDBS on motor symptoms and quality of life (QoL) in one individual with Parkinson's disease over 8 months.</p><p><strong>Methods: </strong>We used stimulation-entrained cortical gamma oscillations as a control signal for aDBS in the subthalamic nucleus and quantified benefits using motor diary ratings, QoL scales, and wearable metrics.</p><p><strong>Results: </strong>We found that aDBS delivered superior and consistent benefits compared with baseline cDBS in measures of bradykinesia and QoL.</p><p><strong>Conclusions: </strong>aDBS can achieve prolonged, stable improvement over clinically optimized cDBS. The neural signal remains stable, and aDBS parameters remain appropriate over extended periods. © 2024 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142764796","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}