Movement Disorders最新文献

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The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort 帕金森病的RAB32 p.Ser71Arg变异:来自意大利大型队列的见解
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-31 DOI: 10.1002/mds.30103
Luca Magistrelli MD, PhD, Marta Brumana MSc, Valeria Rimoldi PhD, Sofia Poggi-Longostrevi MD, Elena Contaldi MD, PhD, Gianni Pezzoli MD, Letizia Straniero PhD, Ioannis U. Isaias MD, PhD, Rosanna Asselta PhD
{"title":"The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort","authors":"Luca Magistrelli MD, PhD,&nbsp;Marta Brumana MSc,&nbsp;Valeria Rimoldi PhD,&nbsp;Sofia Poggi-Longostrevi MD,&nbsp;Elena Contaldi MD, PhD,&nbsp;Gianni Pezzoli MD,&nbsp;Letizia Straniero PhD,&nbsp;Ioannis U. Isaias MD, PhD,&nbsp;Rosanna Asselta PhD","doi":"10.1002/mds.30103","DOIUrl":"10.1002/mds.30103","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objective</h3>\u0000 \u0000 <p>Recently, <i>RAB32</i> has been identified as possibly linked to Parkinson's disease. We studied the prevalence and clinical correlates of the p.Ser71Arg variant in the RAB32 gene in a large case series of Italian patients with Parkinson's disease or atypical parkinsonism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A single-center cohort with a case-control component (consecutively collected at the Parkinson Institute of Milan between 2002 and 2023) was screened for the <i>RAB32</i> p.Ser71Arg variant. Detailed clinical characteristics of carriers were reviewed. Healthy control subjects were partners or unrelated caregivers. The variant was detected by a TaqMan polymerase chain reaction assay.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 4600 patients (3762 with PD and 838 with atypical parkinsonisms) and 1722 healthy control subjects were consecutively included in the study. We identified 20 new variant carriers that, together with the 8 previously identified, had younger age at onset than noncarriers (51.0 ± 10.7 vs. 58.3 ± 11.0 years, respectively; <i>P</i> = 0.01). All carriers had a good response to dopaminergic therapy and device-aided therapies. Carriers had mild or no cognitive decline and mild or no depressive symptoms; six had impulse control disorders and one a REM behavior disorder. Family history was positive in 55.5% of cases versus 22.0% of patients without the variant (<i>P</i> &lt; 0.001) and was compatible with a dominant pattern of inheritance. The variant was not identified in patients with atypical parkinsonisms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study confirms that <i>RAB32</i> is associated with a relatively young adult-onset PD with a favorable therapeutic response. This variant should be included in genetic panels used for the diagnosis of familial and/or relatively young-onset PD. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"511-516"},"PeriodicalIF":7.4,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30103","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142905013","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}
引用次数: 0
Use of Transcranial Magnetic Stimulation to Probe Neuroplasticity and Predict Gait Performance After Treadmill Training in Parkinson's Disease 使用经颅磁刺激探测帕金森病跑步机训练后的神经可塑性和预测步态表现
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-31 DOI: 10.1002/mds.30100
Si-Yu Tsai DPT, Chun-Hwei Tai MD, PhD, Ya-Yun Lee PT, PhD
{"title":"Use of Transcranial Magnetic Stimulation to Probe Neuroplasticity and Predict Gait Performance After Treadmill Training in Parkinson's Disease","authors":"Si-Yu Tsai DPT,&nbsp;Chun-Hwei Tai MD, PhD,&nbsp;Ya-Yun Lee PT, PhD","doi":"10.1002/mds.30100","DOIUrl":"10.1002/mds.30100","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Reduced step length is a hallmark of gait disturbance in people with Parkinson's disease (PD). Although treadmill training is effective for improving step length, the associated neural mechanisms have not been fully investigated. Moreover, exploring the baseline neurophysiological predictors for step length improvement after training could facilitate personalized gait rehabilitation for PD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of this study was to investigate the neuroplastic changes in corticomotor excitability after treadmill training and to explore whether baseline neurophysiological measures could predict step length improvement in PD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 61 participants with idiopathic PD who completed 12 treadmill training sessions were included. Gait performances and corticomotor excitability measured by transcranial magnetic stimulation (TMS) were obtained at baseline, postintervention, and 1-month follow-up. TMS outcomes included motor-evoked potentials, cortical silent period (CSP), intracortical facilitation (ICF), and short-interval intracortical inhibition (SICI). General estimating equation analysis and principal-component analyses were used to determine the neuroplastic changes induced by training, and multiple linear regression analysis was performed to explore the baseline TMS predictors for step length improvement at 1-month follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>After treadmill training, SICI and CSP significantly increased and shared an emerging relationship. Regression analysis showed that female sex and greater baseline ICF and SICI were significant predictors of step length improvement at the follow-up.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study advanced the understanding of neuroplastic changes induced by treadmill training in PD and showed that preserved SICI and ICF were predictors for lasting step length improvement after training. Future studies could investigate other influential factors for treadmill training in PD. © 2024 International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"517-525"},"PeriodicalIF":7.4,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142908223","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}
引用次数: 0
Epigenetic and Metabolic Landscape of Dementia with Lewy Bodies 路易体痴呆的表观遗传和代谢景观
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-30 DOI: 10.1002/mds.30095
Sangeetha Vishweswaraiah PhD, Ali Yilmaz PhD, Juozas Gordevicius PhD, Milda Milčiūtė PhD, Karolis Krinickis PhD, Ieva Kerseviciute PhD, Bernadette McGuinness PhD, Peter Passmore MD, Patrick G. Kehoe PhD, Brian D. Green PhD, Uppala Radhakrishna PhD, Stewart F. Graham PhD
{"title":"Epigenetic and Metabolic Landscape of Dementia with Lewy Bodies","authors":"Sangeetha Vishweswaraiah PhD,&nbsp;Ali Yilmaz PhD,&nbsp;Juozas Gordevicius PhD,&nbsp;Milda Milčiūtė PhD,&nbsp;Karolis Krinickis PhD,&nbsp;Ieva Kerseviciute PhD,&nbsp;Bernadette McGuinness PhD,&nbsp;Peter Passmore MD,&nbsp;Patrick G. Kehoe PhD,&nbsp;Brian D. Green PhD,&nbsp;Uppala Radhakrishna PhD,&nbsp;Stewart F. Graham PhD","doi":"10.1002/mds.30095","DOIUrl":"10.1002/mds.30095","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lewy body diseases, including dementia with Lewy bodies (DLB), are characterized by α-synuclein accumulation, leading to dementia. Previous studies suggest distinct epigenetic and metabolomic profiles in DLB.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aims to identify diagnostic biomarkers by analyzing the methylome and metabolome in the Brodmann area 7 of postmortem brain tissues from DLB patients and control subjects using multiomics approaches.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Methylation analysis was performed using the Illumina EPIC array, and metabolomics profiling was conducted via <sup>1</sup>H nuclear magnetic resonance (NMR) and direct injection/liquid chromatography coupled with mass spectrometry. Differential methylation and metabolite analysis were conducted, followed by pathway enrichment to explore biological relevance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 3478 significantly differentially methylated cytosines, mostly hypermethylated, enriched in CpG islands near transcription start sites. Pathway enrichment analysis showed significant pathways, primarily linked to olfactory and synaptic functions. Metabolomics profiling identified 15 significantly altered metabolites, with Phosphatidylethanolamine (PE) Biosynthesis being the most affected pathway. Key correlations between differentially methylated cytosines and metabolites, particularly in the PE Biosynthesis pathway involving <i>PTDSS1</i> and <i>PCYT2</i> genes, were observed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Notably, sex-specific differences were found, with females exhibiting more epigenetic and metabolomic changes than males. Increased hypermethylation, linked to transcriptional silencing, and disruptions in PE biosynthesis suggest a role in synaptic dysfunction and olfactory deficits. In addition, α-aminoadipic acid was strongly associated with vascular functions, hinting at a possible overlap between vascular health and DLB. This study provides new insights into DLB mechanisms and potential therapeutic targets. © 2024 International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"490-501"},"PeriodicalIF":7.4,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901592","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}
引用次数: 0
Ipsilateral Association Between Rest Tremor and Striatal Binding Is Likely Spurious 同侧静止震颤与纹状体结合之间的联系可能是虚假的
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-27 DOI: 10.1002/mds.30099
Marcelo D. Mendonça MD, PhD, Pedro Ferreira MSc, Joaquim Alves da Silva MD, PhD
{"title":"Ipsilateral Association Between Rest Tremor and Striatal Binding Is Likely Spurious","authors":"Marcelo D. Mendonça MD, PhD,&nbsp;Pedro Ferreira MSc,&nbsp;Joaquim Alves da Silva MD, PhD","doi":"10.1002/mds.30099","DOIUrl":"10.1002/mds.30099","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"380-381"},"PeriodicalIF":7.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142887702","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}
引用次数: 0
In Silico Models for Evaluating Observed Associations Between Rest Tremor and Striatal Binding 评估静息性震颤与纹状体结合之间观察到的关联的计算机模型
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-27 DOI: 10.1002/mds.30096
Kalle J. Niemi MD, Valtteri Kaasinen MD, PhD, Juho Joutsa MD, PhD
{"title":"In Silico Models for Evaluating Observed Associations Between Rest Tremor and Striatal Binding","authors":"Kalle J. Niemi MD,&nbsp;Valtteri Kaasinen MD, PhD,&nbsp;Juho Joutsa MD, PhD","doi":"10.1002/mds.30096","DOIUrl":"10.1002/mds.30096","url":null,"abstract":"","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"382-384"},"PeriodicalIF":7.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142887810","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}
引用次数: 0
Bilateral Lesions in Parkinson's Disease: Gaps and Controversies 帕金森病的双侧病变:差距和争议
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-27 DOI: 10.1002/mds.30090
Maria C. Rodriguez-Oroz MD, PhD, Raúl Martínez-Fernández MD, PhD, Nir Lipsman MD, PhD, Shiro Horisawa MD, PhD, Elena Moro MD, PhD
{"title":"Bilateral Lesions in Parkinson's Disease: Gaps and Controversies","authors":"Maria C. Rodriguez-Oroz MD, PhD,&nbsp;Raúl Martínez-Fernández MD, PhD,&nbsp;Nir Lipsman MD, PhD,&nbsp;Shiro Horisawa MD, PhD,&nbsp;Elena Moro MD, PhD","doi":"10.1002/mds.30090","DOIUrl":"10.1002/mds.30090","url":null,"abstract":"<p>Bilateral lesions of the basal ganglia using termocoagulation or radiation for improving tremor, bradykinesia, and rigidity in people with Parkinson's disease (PD) have been performed starting several decades ago, especially when levodopa and deep brain stimulation (DBS) surgery were not available. However, because of unclear additional benefit compared to unilateral lesion, and particularly to the evidence of increased adverse events occurrence, bilateral lesions were basically abandoned at the end of the 20th century. Therefore, bilateral DBS has become the standard procedure to treat PD. Magnetic resonance imaging-guided focused ultrasound (MRgFUS) is an emerging incisionless technique used to produce therapeutic brain ablation. The positive experiences of unilateral MRgFUS ablation for PD, along with the preliminary favorable outcomes of bilateral thalamic MRgFUS for essential tremor, raise the possibility to eventually reintroduce bilateral lesioning in the management of PD motor features. This possibility has so far only been tested in a few small studies. This article reviews the evidence of bilateral lesioning of the basal ganglia to treat PD, and elaborates on current gaps, controversies, and perspectives of the different available neurosurgical procedures and specifically of MRgFUS ablation. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"231-240"},"PeriodicalIF":7.4,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30090","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142887819","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}
引用次数: 0
α-Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients LRRK2帕金森病患者α-突触核蛋白基因低甲基化
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-23 DOI: 10.1002/mds.30094
Lorena de Mena PhD, Guillem Parés PhD, Alicia Garrido MD, Daniel F. Pilco-Janeta MD, PhD, Manel Fernández MLT, Jesica Pérez MSc, Eduardo Tolosa MD, PhD, Ana Cámara MSc, Francesc Valldeoriola MD, PhD, Mario Ezquerra PhD, María-José Martí MD, PhD, Rubén Fernández-Santiago PhD, the Barcelona LRRK2 Study Group
{"title":"α-Synuclein Gene Hypomethylation in LRRK2 Parkinson's Disease Patients","authors":"Lorena de Mena PhD,&nbsp;Guillem Parés PhD,&nbsp;Alicia Garrido MD,&nbsp;Daniel F. Pilco-Janeta MD, PhD,&nbsp;Manel Fernández MLT,&nbsp;Jesica Pérez MSc,&nbsp;Eduardo Tolosa MD, PhD,&nbsp;Ana Cámara MSc,&nbsp;Francesc Valldeoriola MD, PhD,&nbsp;Mario Ezquerra PhD,&nbsp;María-José Martí MD, PhD,&nbsp;Rubén Fernández-Santiago PhD,&nbsp;the Barcelona LRRK2 Study Group","doi":"10.1002/mds.30094","DOIUrl":"10.1002/mds.30094","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>α-Synuclein (<i>SNCA</i>) gene hypomethylation was reported in idiopathic Parkinson's disease (iPD). Based on a high clinical resemblance between iPD and leucine-rich repeat kinase 2 (LRRK2)-driven Parkinson's disease (L2PD), we investigated the epigenetic status of <i>SNCA</i> in an extensive LRRK2 clinical cohort from Spain.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We assessed the methylation levels of 23 CpG sites in the <i>SNCA</i> promoter region using peripheral blood DNA from L2PD patients (n = 151), LRRK2 nonmanifesting carriers (n = 55), iPD patients (n = 115), and healthy control subjects (n = 154) (total: N = 475).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared with control subjects, we found significant <i>SNCA</i> hypomethylation in 11 of 23 CpGs in L2PD (48%), whereas 22 CpGs (96%) were hypomethylated in iPD. In line with a healthy status, asymptomatic mutation carriers had similar <i>SNCA</i> methylation profiles to control subjects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study shows for the first time that <i>SNCA</i> hypomethylation occurs in patients with L2PD. Further studies addressing <i>SNCA</i> methylation status in additional worldwide LRRK2 cohorts are warranted. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"550-555"},"PeriodicalIF":7.4,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876009","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}
引用次数: 0
The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient 一例常染色体隐性小脑共济失调伴突发性非运动性运动障碍,由截断型FGF14变异引起。
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-20 DOI: 10.1002/mds.30087
Dilşad Türkdoğan MD, Natalia Smolina PhD, Şeyma Tekgül MSc, Tuğçe Gül PhD, Ahmet Yeşilyurt MD, Henry Houlden MD, PhD, Stephan Zuchner MD, PhD, Bernard Brais MDCM, PhD, David Pellerin MD, Ayşe Nazlı Başak PhD
{"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 MD,&nbsp;Natalia Smolina PhD,&nbsp;Şeyma Tekgül MSc,&nbsp;Tuğçe Gül PhD,&nbsp;Ahmet Yeşilyurt MD,&nbsp;Henry Houlden MD, PhD,&nbsp;Stephan Zuchner MD, PhD,&nbsp;Bernard Brais MDCM, PhD,&nbsp;David Pellerin MD,&nbsp;Ayşe Nazlı Başak PhD","doi":"10.1002/mds.30087","DOIUrl":"10.1002/mds.30087","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>ATX-<i>FGF</i>/SCA27A has been exclusively associated with heterozygous variants in the <i>FGF14</i> gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>This study describes the first case of ATX-<i>FGF</i>/SCA27A linked to a biallelic frameshift variant in the <i>FGF14</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Whole-exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We report the first case of autosomal recessive <i>FGF14</i>-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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Biallelic loss-of-function variants in <i>FGF14</i> are a rare cause of inherited cerebellar ataxia and expand the current genetic spectrum of ATX-<i>FGF14</i>. © 2024 International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 2","pages":"370-375"},"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}
引用次数: 0
Subthalamic γ Oscillation Underlying Rapid Eye Movement Sleep Abnormality in Parkinsonian Patients 帕金森病患者快速眼动睡眠异常的丘脑下γ振荡
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-20 DOI: 10.1002/mds.30091
Lingxiao Guan ME, Huiling Yu MD, Yue Chen PhD, Chen Gong PhD, Hongwei Hao PhD, Yi Guo MD, PhD, Shujun Xu MD, PhD, Yuhuan Zhang BS, Xuemei Yuan BS, Guoping Yin MD, PhD, Jianguo Zhang MD, PhD, Huiling Tan PhD, Luming Li PhD
{"title":"Subthalamic γ Oscillation Underlying Rapid Eye Movement Sleep Abnormality in Parkinsonian Patients","authors":"Lingxiao Guan ME,&nbsp;Huiling Yu MD,&nbsp;Yue Chen PhD,&nbsp;Chen Gong PhD,&nbsp;Hongwei Hao PhD,&nbsp;Yi Guo MD, PhD,&nbsp;Shujun Xu MD, PhD,&nbsp;Yuhuan Zhang BS,&nbsp;Xuemei Yuan BS,&nbsp;Guoping Yin MD, PhD,&nbsp;Jianguo Zhang MD, PhD,&nbsp;Huiling Tan PhD,&nbsp;Luming Li PhD","doi":"10.1002/mds.30091","DOIUrl":"10.1002/mds.30091","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Abnormal rapid eye movement (REM) sleep, including REM sleep behavior disorder (RBD) and reduced REM sleep, is common in Parkinson's disease (PD), highlighting the importance of further study on REM sleep. However, the biomarkers of REM disturbances remain unknown, leading to the lack of REM-specific neuromodulation interventions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aims to investigate the neurophysiological biomarkers of REM disturbance in parkinsonian patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Ten PD patients implanted with bilateral subthalamic nucleus-deep brain stimulation (STN-DBS) were included in this study, of whom 4 were diagnosed with RBD. Sleep monitoring was conducted 1 month after surgery. Subthalamic local field potentials (LFP) were recorded through sensing-enabled DBS. The neurophysiological features of subthalamic LFP during phasic and tonic microstates of REM sleep and their correlation with REM sleep fragmentation and RBD were analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Differences in subthalamic γ oscillation between phasic and tonic REM correlated positively with the severity of REM sleep fragmentation. Patients with RBD also exhibited stronger γ oscillations during REM sleep compared with non-RBD patients, and both increased β and γ were found before the onset of RBD episodes. Stimulation changes in simulated γ-triggered feedback modulation followed more closely with phasic REM density, whereas an opposite trend was found in simulated β-triggered feedback modulation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Excess subthalamic γ oscillations may contribute to REM instability and RBD, suggesting that γ oscillation could serve as a feedback signal for adaptive DBS for REM sleep disorders. © 2024 The Author(s). <i>Movement Disorders</i> published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.</p>\u0000 </section>\u0000 </div>","PeriodicalId":213,"journal":{"name":"Movement Disorders","volume":"40 3","pages":"456-467"},"PeriodicalIF":7.4,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/mds.30091","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142869965","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}
引用次数: 0
Movement Disorders: Volume 39, Number 12, December 2024 运动障碍:第39卷,第12号,2024年12月
IF 7.4 1区 医学
Movement Disorders Pub Date : 2024-12-19 DOI: 10.1002/mds.30088
{"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}
引用次数: 0
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