Movement Disorders最新文献

{"title":"The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.","authors":"Dilşad Türkdoğan, Natalia Smolina, Şeyma Tekgül, Tuğçe Gül, Ahmet Yeşilyurt, Henry Houlden, Stephan Zuchner, Bernard Brais, David Pellerin, Ayşe Nazlı Başak","doi":"10.1002/mds.30087","DOIUrl":"https://doi.org/10.1002/mds.30087","url":null,"abstract":"<p><strong>Background: </strong>ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances.</p><p><strong>Objectives: </strong>This study describes the first case of ATX-FGF/SCA27A linked to a biallelic frameshift variant in the FGF14 gene.</p><p><strong>Methods: </strong>Whole-exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing.</p><p><strong>Results: </strong>We report the first case of autosomal recessive FGF14-related cerebellar ataxia caused by a c.75del variant resulting in p.Leu26Serfs*51 truncation of the FGF14 protein. This variant was found in a patient born to consanguineous parents and presented with a complex congenital nonprogressive cerebellar disorder accompanied by neurodevelopmental delay, intellectual disability, and prominent drug-responsive paroxysmal non-kinesigenic dyskinesia. Segregation analysis confirmed that the homozygous variant was inherited from heterozygous parents who developed mild gait ataxia and tremor in their 40s.</p><p><strong>Conclusions: </strong>Biallelic loss-of-function variants in FGF14 are a rare cause of inherited cerebellar ataxia and expand the current genetic spectrum of ATX-FGF14. © 2024 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142862710","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 Short Progressive Supranuclear Palsy Quality of Life Scale: Data from the PSP-NET","authors":"Arianna Cappiello,&nbsp;Paolo Barone MD, PhD,&nbsp;Marina Picillo MD, PhD,&nbsp;The PSP-NET Study Group.","doi":"10.1002/mds.30052","DOIUrl":"10.1002/mds.30052","url":null,"abstract":"&lt;p&gt;We read with interest the article by Jensen and colleagues who proposed a condensed version of the Progressive Supranuclear Palsy Quality of Life scale (PSP-ShoQoL) as a reliable and practical tool to evaluate quality of life in PSP patients.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;The proposed PSP-ShoQoL included 12 items divided into two subscales representing physical (seven items) and mental symptoms (five items) and was administered to 245 patients from the German PSP network. The internal consistency of both total and subscores was high within 0.83 and 0.90. The PSP-ShoQoL significantly correlated with the Progressive Supranuclear Scale-Rating Scale (PSP-RS) and the Geriatric Depression Scale (GDS) but not with the Montreal Cognitive Assessment scale (MoCA). With 12-month follow-up data on a subgroup of 94 patients, the authors showed that the PSP-ShoQoL presented fair sensitivity to change and test–retest reliability.&lt;/p&gt;&lt;p&gt;Herein, we present data on the PSP-ShoQoL on an independent PSP cohort, the Italian PSP-NET supported by Fondazione LIMPE.&lt;span&gt;&lt;sup&gt;2, 3&lt;/sup&gt;&lt;/span&gt; 413 PSP patients performed the same evaluations used by Jensen et al. except for the GDS that was substituted by the Hospital Anxiety and Depression Scale (HADS). Compared with the German cohort, the PSP-NET included older (age: mean ± standard deviation [SD] 71.2 ± 8.1 vs. 69.2 ± 7.4) and more severe patients (PSP-RS: 40.56 ± 16.85 vs. 33.8 ± 13.8) while disease duration was similar (years: 4.44 ± 2.70 vs. 4.1 ± 2.6). Accordingly, PSP-ShoQoL total and subscores were higher within the PSP-NET (PSP-ShoQoL total: 25.33 ± 11.3 vs. 19.27 ± 11.10; PSP-ShoQoL Physical: 18.6 ± 8.2 vs. 13.74 ± 8.25; PSP-ShoQoL Mental: 6.7 ± 5.1 vs. 5.53 ± 4.67). We confirm a fair internal consistency for both the total score (Cronbach's alpha: 0.87) and subscores (Physical: 0.89; Mental: 0.80). The PSP-ShoQoL correlated significantly with the original PSP-QoL (&lt;i&gt;r&lt;/i&gt; = 0.945, &lt;i&gt;P&lt;/i&gt; &lt; 0.001), the PSP-RS (&lt;i&gt;r&lt;/i&gt; = 0.646, &lt;i&gt;P&lt;/i&gt; &lt; 0.001), the MoCA (−0.340, &lt;i&gt;P&lt;/i&gt; &lt; 0.001), and the HADS (&lt;i&gt;r&lt;/i&gt; = 0.602, &lt;i&gt;P&lt;/i&gt; &lt; 0.001). With 6-month follow-up data available for 80 patients, we revealed a significant increase in both PSP-ShoQoL total score (&lt;i&gt;t&lt;/i&gt; = 5.24, &lt;i&gt;P&lt;/i&gt; &lt; 0.001) and Physical (&lt;i&gt;t&lt;/i&gt; = 5.45, &lt;i&gt;P&lt;/i&gt; &lt; 0.001) and Mental (−2.78, &lt;i&gt;P&lt;/i&gt; &lt; 0.05) subscores. Test–retest reliability was good both for PSP-ShoQoL total score (intraclass correlation coefficient [ICC] = 0.78, &lt;i&gt;P&lt;/i&gt; &lt; 0.001), as well as for its subscales (Physical ICC = 0.80, &lt;i&gt;P&lt;/i&gt; &lt; 0.00; Mental ICC = 0.68, &lt;i&gt;P&lt;/i&gt; &lt; 0.001). Finally, by analyzing the area under the curve (AUC) we identified a value of 34.5 as a discriminating cutoff for a significant impairment of quality of patients' life measured by the PSP-ShoQoL within the PSP-NET (sensibility: 0.97; specificity: 0.15; AUC: 0.93) (Fig. 1).&lt;/p&gt;&lt;p&gt;Jensen and coworkers proposed a brief instrument with fair psychometric properties fo","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 12","pages":"2305-2307"},"PeriodicalIF":7.4,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142851639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Movement Disorders: Volume 39, Number 12, December 2024","authors":"","doi":"10.1002/mds.30088","DOIUrl":"10.1002/mds.30088","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 12","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30088","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142858427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Analysis of GCA Repeats in the GLS Gene: Implications for Undiagnosed Ataxia and Spinocerebellar Ataxia 3 in Mainland China.","authors":"Lijing Lei, Linliu Peng, Linlin Wan, Zhao Chen, Chunrong Wang, Huirong Peng, Rong Qiu, Beisha Tang, Hong Jiang","doi":"10.1002/mds.30083","DOIUrl":"https://doi.org/10.1002/mds.30083","url":null,"abstract":"<p><strong>Background: </strong>Recent studies have reported that expanded GCA repeats in the GLS gene can cause glutaminase deficiency with ataxia phenotype. However, to data, no studies have investigated the distribution and role of GCA repeats in the GLS gene of Chinese individuals.</p><p><strong>Objective: </strong>The aim was to investigate the distribution of GCA repeats in Chinese individuals, including undiagnosed ataxia patients for identifying causal factors, healthy controls for determining the normal range, and ATX-ATXN3 (spinocerebellar ataxia type 3, SCA3) patients for exploring genetic modifiers.</p><p><strong>Methods: </strong>We combined whole-genome sequencing (WGS), repeat-primed polymerase chain reaction, capillary electrophoresis (RP-PCR/CE), and ExpansionHunter to screen the GCA repeats in the GLS gene of 349 undiagnosed ataxia individuals, 1505 healthy controls, and 1236 ATX-ATXN3 (SCA3) patients from mainland China.</p><p><strong>Results: </strong>No expanded GCA repeats in the GLS gene were detected across any of the samples. The average number of GCA repeats was 11 (range: 8-31), 12 (range: 6-33), and 11 (range: 6-33) for undiagnosed ataxia patients, healthy controls, and SCA3 patients, respectively. The intermediate repeat size (9 < repeat size ≤ 13) of the nonexpanded GCA allele in the GLS gene was associated with later disease onset in ATX-ATXN3 (SCA3) patients.</p><p><strong>Conclusions: </strong>Abnormal expansions of GLS GCA repeats are rare in the Chinese population. However, intermediate-length normal GCA repeat sizes may influence the age at onset (AAO) in ATX-ATXN3 (SCA3) patients. © 2024 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142851632","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":"Reply to: “A Short Progressive Supranuclear Palsy Quality of Life Scale: Data from the PSP-NET”","authors":"Ida Jensen MD,&nbsp;Sarah Bebermeier PhD,&nbsp;Stephanie Stiel MD,&nbsp;Günter U. Höglinger MD,&nbsp;Martin Klietz MD","doi":"10.1002/mds.30049","DOIUrl":"10.1002/mds.30049","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 12","pages":"2307-2308"},"PeriodicalIF":7.4,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142851648","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":"December Infographic","authors":"","doi":"10.1002/mds.29495","DOIUrl":"10.1002/mds.29495","url":null,"abstract":"<p>\u0000 \u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure>\u0000 A Homozygous Variant in <i>NAA60</i> Is Associated with Primary Familial Brain Calcification</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 12","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/10.1002/mds.29495","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142858425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"FDA Boosts the Progressive Supranuclear Palsy Rating Scale!","authors":"Cristina Sampaio MD, PhD","doi":"10.1002/mds.30040","DOIUrl":"10.1002/mds.30040","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"39 12","pages":"2127-2129"},"PeriodicalIF":7.4,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142851645","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":"Association between the Amplification Parameters of the α-Synuclein Seed Amplification Assay and Clinical and Genetic Subtypes of Parkinson's Disease.","authors":"Piergiorgio Grillo, Luis Concha-Marambio, Antonio Pisani, Giulietta Maria Riboldi, Un Jung Kang","doi":"10.1002/mds.30085","DOIUrl":"https://doi.org/10.1002/mds.30085","url":null,"abstract":"<p><strong>Background: </strong>α-Synuclein seed amplification assay on cerebrospinal fluid (CSF-αSyn-SAA) has shown high accuracy for Parkinson's disease (PD) diagnosis. The analysis of CSF-αSyn-SAA parameters may provide useful insight to dissect the heterogeneity of synucleinopathies.</p><p><strong>Objective: </strong>To assess differences in CSF-αSyn-SAA amplification parameters in participants with PD stratified by rapid eye movement (REM) sleep behavior disorder (RBD), dysautonomia, GBA, and LRRK2 variants.</p><p><strong>Methods: </strong>Clinical and CSF-αSyn-SAA data from the Parkinson's Progression Marker Initiative dataset were used. CSF-αSyn-SAA parameters included maximum fluorescence (F_max), time to reach 50% of F_max (T50), time to threshold (TTT), slope, and area under the curve (AUC). Sporadic PD (n = 371) was stratified according to RBD and dysautonomia (DysA) symptoms. Genetic PD included carriers of pathogenic variants of GBA (GBA-PD, n = 52) and LRRK2 (LRRK2-PD, n = 124) gene.</p><p><strong>Results: </strong>CSF-αSyn-SAA was positive in 77% of LRRK2-PD, 92.3% of GBA-PD, and 93.8% of sporadic PD. The LRRK2-PD cohort showed longer T50 and TTT, and smaller AUC than GBA-PD (P = 0.029, P = 0.029, P = 0.016, respectively) and sporadic PD (P = 0.034, P = 0.033, P = 0.014, respectively). In the sporadic cohort, CSF-αSyn-SAA parameters were similar between PD with (n = 157) and without (n = 190) RBD, whereas participants with DysA (n = 193) presented shorter T50 (P = 0.026) and larger AUC (P = 0.029) than those without (n = 150).</p><p><strong>Conclusion: </strong>CSF-αSyn-SAA parameters vary across genetic and non-genetic PD subtypes at the group level. These differences are mostly driven by the presence of LRRK2 variants and DysA. Significant overlaps in the amplification parameter values exist between groups and limit their use at the individual level. Further studies are necessary to understand the mechanisms of CSF-αSyn-SAA parameter differences. © 2024 International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":" ","pages":""},"PeriodicalIF":7.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845349","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":"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}