Parkinsonism & related disorders最新文献_第2页

Letter to the Editor: Causal associations of physical activity and leisure sedentary behaviors with age at onset of Huntington's disease: A Mendelian randomization study 致编辑的信：体育锻炼和休闲久坐行为与亨廷顿氏病发病年龄的因果关系：孟德尔随机研究

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107131

Ross Allan Clark (Faculty of Health Science)

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Early onset Parkinson's disease: Taking a closer look 早发性帕金森病：近距离观察。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107164

Norlinah Mohamed Ibrahim, Pramod Kumar Pal

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Response to Letter to the Editor: Causal associations of physical activity and leisure sedentary behaviors with age at onset of Huntington's disease: A Mendelian randomization study 回应致编辑的信：体育锻炼和休闲久坐行为与亨廷顿氏病发病年龄的因果关系：孟德尔随机研究。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107180

Haonan Wang , Yinghong Dai , Yihong Tai, Zeng Zhou, Xin Zhou, Bin Li, Liang Yu

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Early Onset Parkinsonism: Differential diagnosis and what not to miss 早发性帕金森病：鉴别诊断和不容错过之处。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107100

Norlinah Mohamed Ibrahim , Chin Hsien Lin

{"title":"Early Onset Parkinsonism: Differential diagnosis and what not to miss","authors":"Norlinah Mohamed Ibrahim , Chin Hsien Lin","doi":"10.1016/j.parkreldis.2024.107100","DOIUrl":"10.1016/j.parkreldis.2024.107100","url":null,"abstract":"<div><div>Early Onset Parkinsonism (EOP) refers to parkinsonism occurring before the age of 50 years. The causes are diverse and include secondary and genetic causes. Secondary causes related to medications, inflammatory and infective disorders are mostly treatable and well recognized as they usually present with a relatively more rapid clinical course compared to idiopathic Parkinson's disease. Genetic causes of EOP are more challenging to diagnose especially as more of the non-<em>PARK</em> genes are recognized to present with typical and atypical parkinsonism. Some of the genetic disorders such as Spinocerebellar ataxia 2 (SCA2) and Spinocerebellar ataxia 3 (SCA3) may present with levodopa-responsive parkinsonism, indistinguishable from idiopathic Parkinson's disease. Additionally, some of the genetic disorders, including Wilson's disease and cerebrotendinous xanthomatosis (CTX), are potentially treatable and should not be missed. Due to the advent of next generating sequencing techniques, genetic analyses facilitate early identification and proper treatment of diverse causes of EOP. In this review, we outline the clinical approach of EOP highlighting the key clinical features of some of the non-<em>PARK</em> genetic causes of EOP and related investigations, which could assist in clinical diagnosis. This review also encompass genetic diagnostic approaches, emphasizing the significance of pretest counseling and the principles of bioinformatics analysis strategies.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107100"},"PeriodicalIF":3.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Recognition and characterising non-motor profile in early onset Parkinson's disease (EOPD) 早发性帕金森病（EOPD）非运动特征的识别和描述。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107123

Karolina Poplawska-Domaszewicz , Mubasher A. Qamar , Cristian Falup Pecurariu , K Ray Chaudhuri

{"title":"Recognition and characterising non-motor profile in early onset Parkinson's disease (EOPD)","authors":"Karolina Poplawska-Domaszewicz , Mubasher A. Qamar , Cristian Falup Pecurariu , K Ray Chaudhuri","doi":"10.1016/j.parkreldis.2024.107123","DOIUrl":"10.1016/j.parkreldis.2024.107123","url":null,"abstract":"<div><div>Early onset Parkinson's disease (EOPD) has been recently defined as a clinical entity with subjects presenting with Parkinson's disease (PD) between the ages of 21–50 and replaces the term Young Onset PD (YOPD). Presentations in this age group are somewhat different to the typical Late Onset sporadic PD (LOPD) and genetic basis may play an important role. The presentations are however, to be differentiated from other causes of juvenile onset or early onset parkinsonism, which are often driven by rare genetic, brain metal deposition, or metabolic progressive disorders with a levolevodopa unresponsive or poorly responsive phenotype. Specific genetic mutations can also underpin EOPD and include nonmotor symptoms of EOPD, which have not been studied extensively. However, some real-life comparator studies with LOPD suggest a nonmotor profile in EOPD dominated by neuropsychiatric symptoms (anxiety), pain, sexual dysfunction, and a higher risk of impulse control disorders and segregation to the recently described noradrenergic and Park-sleep nonmotor endophenotypes may occur. Awareness of the phenotypic variants and nonmotor expression will pave the way for future precision and personalised medicine.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107123"},"PeriodicalIF":3.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Genetic heterogeneity of early onset Parkinson disease: The dilemma of clinico-genetic correlation 早发帕金森病的遗传异质性：临床与遗传相关性的困境。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107146

Roopa Rajan , Vikram V. Holla , Nitish Kamble , Ravi Yadav , Pramod Kumar Pal

{"title":"Genetic heterogeneity of early onset Parkinson disease: The dilemma of clinico-genetic correlation","authors":"Roopa Rajan , Vikram V. Holla , Nitish Kamble , Ravi Yadav , Pramod Kumar Pal","doi":"10.1016/j.parkreldis.2024.107146","DOIUrl":"10.1016/j.parkreldis.2024.107146","url":null,"abstract":"<div><div>With advances in genetic testing increasing proportion of early onset Parkinson disease (EOPD) are being identified to have an underlying genetic aetiology. This is can be in the form of either highly penetrant genes associated with phenotypes with monogenic or mendelian inheritance patterns or those genes known as risk factor genes which confer an increased risk of PD in an individual. Both of them can modify the phenotypic manifestation in a patient with PD. This improved knowledge has helped in deciphering the intricate role of various cellular pathways in the pathophysiology of PD including both early and late and even sporadic PD. However, the phenotypic and genotypic heterogeneity is a major challenge. Different deleterious alterations in a same gene can result in a spectrum of presentation spanning from juvenile to late onset and typical to atypical parkinsonism manifestation. Similarly, a single phenotype can occur due to abnormality in two or more different genes. This conundrum poses a dilemma in the clinical approach and in understanding the clinico-genetic correlation. Understanding the clinico-genetic correlation carries even more importance especially when genetic testing is either not accessible or affordable or in many regions both. In this narrative review, we aim to discuss briefly the approach to various PARK gene related EOPD and describe in detail the clinico-genetic correlation of individual type of PARK gene related genetic EOPD with respect to their classical clinical presentation, pathophysiology, investigation findings and treatment response to medication and surgery.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107146"},"PeriodicalIF":3.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Revisiting sex-gender disparities in MSA: An unfinished narrative 重新审视澳门金沙线上领彩金网的性别差异：未完成的叙述。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107159

Alexandra Pérez-Soriano , Celia Painous , Barbara Segura , Maria José Martí

引用次数: 0

Empowering the management of early-onset Parkinson’s disease: The role of technology 增强早期帕金森病的管理能力：技术的作用。

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-12-01 DOI: 10.1016/j.parkreldis.2024.107052

Roongroj Bhidayasiri , Ornanong Udomsirithamrong , Adrian de Leon , Walter Maetzler , Andrea Pilotto

{"title":"Empowering the management of early-onset Parkinson’s disease: The role of technology","authors":"Roongroj Bhidayasiri , Ornanong Udomsirithamrong , Adrian de Leon , Walter Maetzler , Andrea Pilotto","doi":"10.1016/j.parkreldis.2024.107052","DOIUrl":"10.1016/j.parkreldis.2024.107052","url":null,"abstract":"<div><div><span>Early-onset Parkinson's disease (EOPD) is defined as PD with an age of onset after 21 years of age but before 50 years. It displays many important differences to late-onset PD in terms of its pathology, phenotype, presentation and </span>disease course<span><span>, all of which have consequences for achieving a definitive diagnosis, the choice of therapy and approach to management. Studies show that this younger population is keen to embrace digital technologies as part of PD care, being familiar with using digital tools in their daily lives. Although most of the literature relating to the use of technology in PD applies to the broad population, this review focuses on evidence and potential benefits of the use of digital technologies to support clinical management in EOPD as well as its value in empowering patients to achieve self-management and in improving their quality of life<span>. Digital technologies also have important and increasing roles in providing telehealth, including rehabilitation strategies for motor and non-motor PD symptoms. EOPD is known to be associated with a higher risk of motor fluctuations, so technologies such as </span></span>wearable sensors have a valuable role for monitoring symptoms, providing timely feedback, and informing treatment decisions. In addition, digital technologies allow easy provision and equitable access to education and networking opportunities that will enable patients to have a better understanding of their condition.</span></div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107052"},"PeriodicalIF":3.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

GLP-1 receptor agonists for Parkinson's disease: An updated meta-analysis.

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-11-29 DOI: 10.1016/j.parkreldis.2024.107220

Matheus Barros de Albuquerque, Luiz Eduardo Duarte Borges Nunes, João Victor de Oliveira Maldonado, Diogo Grassano Melo Ferreira, Mateus Macedo Margato, Lúcio Vilar Rabelo, Marcelo Moraes Valença, Lúcia Helena Oliveira Cordeiro

{"title":"GLP-1 receptor agonists for Parkinson's disease: An updated meta-analysis.","authors":"Matheus Barros de Albuquerque, Luiz Eduardo Duarte Borges Nunes, João Victor de Oliveira Maldonado, Diogo Grassano Melo Ferreira, Mateus Macedo Margato, Lúcio Vilar Rabelo, Marcelo Moraes Valença, Lúcia Helena Oliveira Cordeiro","doi":"10.1016/j.parkreldis.2024.107220","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107220","url":null,"abstract":"<p><strong>Introduction: </strong>Treatments for Parkinson's disease (PD) focus on symptom reduction through dopaminergic therapies, without clear evidence of disease-modifying effects. Glucagon-like peptide-1 (GLP-1) receptor agonists may reduce neuroinflammation by decreasing microglia activation in PD. Clinical trials suggest these agents have disease-modifying potential in PD.</p><p><strong>Objective: </strong>Evaluate the efficacy of GLP-1 receptor agonists in PD.</p><p><strong>Methods: </strong>PubMed, Embase and Cochrane Library were searched to identify randomized controlled trials (RCTs) of GLP-1 agonists for PD, up to July 2024. The risk of bias was assessed using the RoB-2 tool, and statistical analysis was performed with RevMan 5.4.1 software.</p><p><strong>Results: </strong>GLP-1 receptor agonists showed a beneficial effect on MDS-UPDRS part III motor scores compared to placebo. Off-medication state, there was a -1.22 point improvement (95%CI -2.46, 0.22; P = 0.05). On-medication state, scores improved by -2.52 points (95%CI -4.02, -1.01; P = 0.001). The global MDS-UPDRS score showed a -3.43-point difference (95%CI -6.48, -0.48; P = 0.02). Cognitive performance, assessed via the Mattis DRS-2, improved by 1.32 points (95%CI 0.16, 2.52; P = 0.03). There were no significant differences in the NMSS (-0,19; 95%IC -3,44, 3,05; P = 0.91), in MADRS (-1,04; 95%IC -2,57, 0,48; P = 0.18), or PDQ-39 (-0,91; 95%IC -2,22, 0,39; P = 0.17).</p><p><strong>Conclusion: </strong>GLP-1 receptor agonists improved motor and cognitive performance in PD, suggesting potential symptomatic benefits. However, further studies are needed to evaluate their long-term effects and their role in disease modification, especially considering ethnic and disease severity variations.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"130 ","pages":"107220"},"PeriodicalIF":3.1,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Safety of adipose-derived stromal vascular fraction cells to treat Parkinson's disease.

IF 3.1 3区医学

Parkinsonism & related disorders Pub Date : 2024-11-28 DOI: 10.1016/j.parkreldis.2024.107214

Michael Carstens, Jorge Martínez-Cerrato, Luis Garcia, Bayron Rivera, Kenneth Bertram

{"title":"Safety of adipose-derived stromal vascular fraction cells to treat Parkinson's disease.","authors":"Michael Carstens, Jorge Martínez-Cerrato, Luis Garcia, Bayron Rivera, Kenneth Bertram","doi":"10.1016/j.parkreldis.2024.107214","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107214","url":null,"abstract":"<p><p>Neuroinflammation is a significant correlate of Parkinson's Disease (PD), with positron emission tomography showing microglial activation early in the PD process and post-mortem tissue containing reactive microglia. Adipose-derived (AD) stromal vascular fraction (SVF) cells have been shown to respond to pro-inflammatory conditions with secretion of anti-inflammatory paracrine factors. This pilot clinical trial was to examine the safety and clinical response using autologous ADSVF to treat PD. Nine PD subjects had baseline neurological exams and Parkinson's Disease Questionnaire 39 (PDQ-39) and \"off-medication\" Movement Disorder Society (MDS) - Unified Parkinson's Disease Rating Scale (UPDRS) Part III assessments. Each subject had a liposuction procedure; the lipoaspirate was then processed via enzymatic digestion to yield SVF. All subjects were treated with a total dose of 30 million autologous SVF cells injected in the forehead and maxillary regions. Subjects were followed at 1-, 3-, 6-, 12-, and 24-months for safety and potential clinical improvement. There were no SVF intervention-related serious adverse events. PDQ-39 scores at 12-months and 24-months were improved in 6 of 9 subjects evaluable and 4 of 7 subjects evaluable, respectfully. Scores were stable in 1 subject and worse in 2 subjects. MDS-UPDRS Part III scores were improved at 24, months in 3 evaluable subjects and were stable in 2 subjects. One subject required increased dopaminergic medication for increased tremor (disease progression). Autologous ADSVF via facial injections to treat PD was safe, showed evidence of clinical improvement at 12 and 24 months and should be further evaluated in a Phase II placebo-controlled clinical trial.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107214"},"PeriodicalIF":3.1,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142807618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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