Parkinsonism & related disorders最新文献

{"title":"Clinical trial eligibility in PSP: Population representativeness and potential criteria adjustment based on PSP-NET findings.","authors":"Filomena Abate, Francesca Di Biasio, Roberta Marchese, Tiziana Benzi Markushi, Andrea Ciammola, Nicola Ticozzi, Giovanna Calandra-Buonaura, Ilaria Cani, Luisa Sambati, Giovanni Fabbrini, Matteo Costanzo, Andrea Soricelli, Daniela Frosini, Eleonora Del Prete, Tommaso Schirinzi, Alessandro Stefani, Barbara Borroni, Alessandro Padovani, Paolo Barone, Marina Picillo, Andrea Pilotto","doi":"10.1016/j.parkreldis.2024.107226","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107226","url":null,"abstract":"<p><strong>Background: </strong>Progressive Supranuclear Palsy (PSP) is a rare, heterogeneous neurodegenerative disease for which no treatment is currently available. In the context of clinical trials, the representativeness of the included patients is crucial for the generalizability of the results. Herein, we present results from a multicenter perspective study to identify the most restrictive criteria for patient selection and to assess the representativeness of eligible patients.</p><p><strong>Methods: </strong>we enrolled 221 PSP patients diagnosed according to the MDS clinical criteria. All patients were screened with a set of inclusion and exclusion criteria based on previous and ongoing clinical trials in PSP and underwent motor and cognitive evaluation with the Montreal Cognitive Assessment battery and the PSP rating scale, respectively. Then, clinical features of eligible and non-eligible patients were compared at baseline and after 15,93 ± 8,77 months follow up.</p><p><strong>Results: </strong>Eligible (28 patients, 12,6 %) patients were younger, showed shorter disease duration and lower severity but similar distribution of PSP phenotype and disease progression rates compared to non-eligible patients. The most restrictive non-modifiable criteria were independent gait, disease duration and cognitive status. Willingness to undergo lumbar puncture and treatment stability for previous 60 days represented potentially modifiable criteria.</p><p><strong>Conclusion: </strong>Overall, PSP eligible for clinical trials are representative of the general PSP population. While motor and cognitive impairment represent the most important non-modifiable barriers to enter a clinical trial, other criteria as willingness to undergo lumbar puncture and treatment stability are potentially modifiable. Specific strategies are discussed to increase the number of eligible patients working on potentially modifiable criteria.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"131 ","pages":"107226"},"PeriodicalIF":3.1,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864960","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}

{"title":"Regional cerebral cholinergic vesicular transporter correlates of visual contrast sensitivity in Parkinson's disease: Implications for visual and cognitive function.","authors":"Taylor Brown, Prabesh Kanel, Alexis Griggs, Giulia Carli, Robert Vangel, Roger L Albin, Nicolaas I Bohnen","doi":"10.1016/j.parkreldis.2024.107229","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107229","url":null,"abstract":"<p><p>Visual and visual processing deficits are implicated in freezing, falling, and cognitive impairments in Parkinson's disease (PD). In particular, contrast sensitivity deficits are common and may be related to cognitive impairment in PD. While dopaminergic deficits play a role in PD-related visual dysfunction, brain cholinergic systems also modulate many aspects of visual processing. The aim of this study was to explore regional cerebral cholinergic terminal density correlates of contrast sensitivity in PD. Ninety-one PD subjects underwent contrast sensitivity testing, motor testing, cognitive testing, and brain MRI and [¹⁸F]-fluoroethoxybenzovesamicol [¹⁸F]-FEOBV PET imaging. Whole brain false discovery error-corrected (p < 0.05) correlations revealed significant associations between VAChT deficits in pericentral, limbic, and visual processing regions and contrast sensitivity performance, independent of disease duration and dopaminergic medication doses. These results suggest that brain cholinergic deficits correlate with contrast sensitivity deficits in PD. Additionally, decreased Rabin contrast sensitivity scores were associated with lower total scores in the Parkinson's Disease Cognitive Rating Scale. These findings suggest that diminished cognitive performance correlated with contrast sensitivity partly reflects underlying vulnerabilities of brain cholinergic systems.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"131 ","pages":"107229"},"PeriodicalIF":3.1,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854738","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}

{"title":"NDUFAF5 variants cause early onset Leigh syndrome.","authors":"Breno Kazuo Massuyama, Amanda Monteiro Viagi, Rafael Chaves Claudino de Queiroga, Raphael Pinheiro Camurugy da Hora, Victor Rebelo Procaci, Augusto Bragança Reis Rosa, Thiago Yoshinaga Tonholo Silva, Orlando Graziani Povoas Barsottini, José Luiz Pedroso","doi":"10.1016/j.parkreldis.2024.107227","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107227","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"131 ","pages":"107227"},"PeriodicalIF":3.1,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829691","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}

{"title":"Evaluation of mild cognitive impairment in older patients with essential tremor.","authors":"Miki Hashida, Satoshi Maesawa, Satomi Mizuno, Sachiko Kato, Yoshiki Ito, Manabu Mutoh, Takahiro Suzuki, Tomotaka Ishizaki, Takafumi Tanei, Takashi Tsuboi, Masashi Suzuki, Daisuke Nakatsubo, Takahiko Tsugawa, Epifanio Bagarinao, Toshihiko Wakabayashi, Masahisa Katsuno, Ryuta Saito","doi":"10.1016/j.parkreldis.2024.107228","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107228","url":null,"abstract":"<p><strong>Introduction: </strong>Recent studies have reported that essential tremor (ET) presents with not only motor symptoms but also cognitive dysfunction. However, detailed pathological mechanisms remain unclear. Here, we evaluate the characteristics of cognitive changes in older patients.</p><p><strong>Methods: </strong>Eighty-five patients aged 65 years or older with ET but without dementia were evaluated for cognitive function using the Addenbrooke Cognitive Examination Revised (ACE-R). The patients were compared with healthy controls (HCs), and the characteristics of cognitive dysfunction were examined. Age at onset and correlations with tremor severity were also investigated. Moreover, we performed resting-state network (RSNs) analysis in a subset of these patients, and the functional connectivity (FC) within the networks was compared with age-matched controls.</p><p><strong>Results: </strong>Compared to HCs, older patients with ET showed a clear reduction in the total (p = 0.001), attention (p = 0.005), verbal fluency (p = 0.001), and memory (p = 0.001) ACE-R scores. Older-onset patients showed significant cognitive dysfunction compared with younger-onset patients. Verbal fluency correlated with tremor severity in the multiple regression analysis (p < 0.001). RSNs showed an increase in FC in the frontal lobes within the language network in patients with ET compared to HCs (p < 0.05, FWE-corrected).</p><p><strong>Conclusion: </strong>Older patients with ET showed obvious cognitive dysfunction compared to HCs, indicating that cognitive dysfunction varies by age of onset and correlates with tremor severity. The results of the RSNs analysis suggest that the pathological mechanism of cognitive dysfunction in ET patients involves network changes similar to those in the early stages of Alzheimer's disease.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"131 ","pages":"107228"},"PeriodicalIF":3.1,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824422","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}

{"title":"Authors' reply to \"Perfection is the enemy of good - A Letter to the editor on \"Orthostatic hypotension in Parkinson's disease: Sit-to-stand vs. supine-to-stand protocol and clinical correlates\".","authors":"Shen-Yang Lim, Kai Bin Lim, Jia Wei Hor, Ai Huey Tan","doi":"10.1016/j.parkreldis.2024.107221","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107221","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107221"},"PeriodicalIF":3.1,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847072","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}

{"title":"Comment on \"The use of hypoglycemic drugs in Parkinson's disease: An updated meta-analysis of randomized controlled trials\".","authors":"Luis Otávio Nogueira, Dayany Leonel Boone","doi":"10.1016/j.parkreldis.2024.107223","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107223","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107223"},"PeriodicalIF":3.1,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813935","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}

{"title":"IAPRD new consensus classification of myoclonus.","authors":"Anna Latorre, S van der Veen, Ashley Pena, Daniel Truong, Roberto Erro, Steven Frucht, Christos Ganos, Mark Hallett, Belen Perez-Duenas, Malco Rossi, Emmanuel Roze, Marie Vidailhet, Marina Aj de Koning-Tijssen, John N Caviness","doi":"10.1016/j.parkreldis.2024.107216","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107216","url":null,"abstract":"<p><strong>Introduction: </strong>Recent new advances in myoclonus characterization and etiology justify an update of the 40-year-old respected classification of myoclonus proposed by Marsden, Hallett, and Fahn. New advances include genetic studies and clinical neurophysiology characterization.</p><p><strong>Methods: </strong>The IAPRD appointed an expert panel to develop a new myoclonus classification. The Delphi Method of consensus determination was employed using a panel of fifteen international experts in myoclonus. In an in-person meeting, an Axis approach, previously used for dystonia and tremor was ratified by the panel: Axis I included clinical and neurophysiology features, Axis II included etiology categories. As a unique part of our Axis approach, Clinical Neurophysiology was included as Axis Ib. The first Delphi survey round queried agreement on major headings in Axes Ia and Ib, myoclonus clinical syndromes, and Axis II. In the second round, the full expert panel was surveyed on constituents and specific characteristics of each feature that had consensus in the first round.</p><p><strong>Results: </strong>In the first round, the percentage of agreement for the fifty-three out of the 56 items was greater than 60.0 %, indicating strong consensus among expert panel members. In the second round, for Axis Ia, Axis Ib, and Axis II, strong agreement was also achieved. For both rounds, Physiological Myoclonus had the lowest agreement. Comments from the whole panel were incorporated into the consensus results.</p><p><strong>Conclusion: </strong>This Myoclonus Classification, which reached consensus using the Delphi Method, will facilitate a collaborative effort among myoclonus investigators to find better diagnostics and treatment for myoclonus patients.</p>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107216"},"PeriodicalIF":3.1,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813939","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}

{"title":"Letter to the editor: The impact of anti-inflammatory therapy on Parkinson's disease incidence: A retrospective cohort study.","authors":"Mingsheng Huang","doi":"10.1016/j.parkreldis.2024.107224","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107224","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107224"},"PeriodicalIF":3.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792156","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}

{"title":"Letter to the editor: Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial survey.","authors":"Mingsheng Huang","doi":"10.1016/j.parkreldis.2024.107222","DOIUrl":"https://doi.org/10.1016/j.parkreldis.2024.107222","url":null,"abstract":"","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":" ","pages":"107222"},"PeriodicalIF":3.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792152","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}

{"title":"Epidemiology of early-onset Parkinson disease (EOPD) worldwide: East versus west","authors":"Aaron Shengting Mai ,&nbsp;Xiao Deng ,&nbsp;Eng-King Tan","doi":"10.1016/j.parkreldis.2024.107126","DOIUrl":"10.1016/j.parkreldis.2024.107126","url":null,"abstract":"<div><div>Parkinson disease (PD) is characterized by the presence of bradykinesia with either rest tremor, muscle rigidity, or postural instability. If the features for PD are present but the age at onset (AAO) is before the usual but later than 21 years of age, it is considered as early-onset PD (EOPD). With Eastern countries projected to account for over 60 % of the world's population, it is paramount to understand the differences in EOPD between Western and Eastern countries. Epidemiology can differ substantially between the East and West, such as China showing a much steeper rise in EOPD prevalence and incidence with age, or Japan and Korea showing a female predominance in EOPD for certain age groups. Symptomatology appears to be similar across Western and Eastern populations, though some Eastern populations may have a higher prevalence of the akinetic-rigid or postural instability/gait difficulty motor phenotypes. Genetic epidemiology, conversely, varies significantly between the East and West, though some genes are frequently implicated in both (such as <em>LRRK2</em>, <em>PINK1</em>, <em>PRKN</em>, and <em>GBA</em>). Next, treatment patterns also exhibit substantial geographical variation, which could be driven by local availability of medications, adequacy of staff training and infrastructure, and local regulatory bodies. Lastly, regardless of region, EOPD exerts a profound psychosocial impact on patients, such as strained relationships, unemployment, and psychological distress. In summary, understanding these differences (and similarities) between the East and West could help generate innovative solutions, while the development of healthy habits and robust social networks should also be actively encouraged in all patients.</div></div>","PeriodicalId":19970,"journal":{"name":"Parkinsonism & related disorders","volume":"129 ","pages":"Article 107126"},"PeriodicalIF":3.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142293107","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}