Journal of Neurology, Neurosurgery, and Psychiatry最新文献

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Directional deep brain stimulation electrodes in Parkinson's disease: meta-analysis and systematic review of the literature. 帕金森病的定向脑深部刺激电极:荟萃分析和系统性文献综述。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-333947
Victor Hvingelby, Fareha Khalil, Flavia Massey, Alexander Hoyningen, San San Xu, Joseph Candelario-McKeown, Harith Akram, Thomas Foltynie, Patricia Limousin, Ludvic Zrinzo, Marie T Krüger
{"title":"Directional deep brain stimulation electrodes in Parkinson's disease: meta-analysis and systematic review of the literature.","authors":"Victor Hvingelby, Fareha Khalil, Flavia Massey, Alexander Hoyningen, San San Xu, Joseph Candelario-McKeown, Harith Akram, Thomas Foltynie, Patricia Limousin, Ludvic Zrinzo, Marie T Krüger","doi":"10.1136/jnnp-2024-333947","DOIUrl":"10.1136/jnnp-2024-333947","url":null,"abstract":"<p><strong>Background: </strong>Since their introduction in 2015, directional leads have practically replaced conventional leads for deep brain stimulation (DBS) in Parkinson's disease (PD). Yet, the benefits of directional DBS (dDBS) over omnidirectional DBS (oDBS) remain unclear. This meta-analysis and systematic review compares the literature on dDBS and oDBS for PD.</p><p><strong>Methods: </strong>Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed. Database searches included Pubmed, Cochrane (CENTRAL) and EmBase, using relevant keywords such as 'directional', 'segmented', 'brain stimulation' and 'neuromodulation'. The screening was based on the title and abstract.</p><p><strong>Results: </strong>23 papers reporting on 1273 participants (1542 leads) were included. The therapeutic window was 0.70 mA wider when using dDBS (95% CI 0.13 to 1.26 mA, p=0.02), with a lower therapeutic current (0.41 mA, 95% CI 0.27 to 0.54 mA, p=0.01) and a higher side-effect threshold (0.56 mA, 95% CI 0.38 to 0.73 mA, p<0.01). However, there was no relevant difference in mean Unified Parkinson's Disease Rating Scale III change after dDBS (45.8%, 95% CI 30.7% to 60.9%) compared with oDBS (39.0%, 95% CI 36.9% to 41.2%, p=0.39), in the medication-OFF state. Median follow-up time for dDBS and oDBS studies was 6 months and 3 months, respectively (range 3-12 for both). The use of directionality often improves dyskinesia, dysarthria, dysesthesia and pyramidal side effects. Directionality was used in 55% of directional leads at 3-6 months, remaining stable over time (56% at a mean of 14.1 months).</p><p><strong>Conclusions: </strong>These findings suggest that stimulation parameters favour dDBS. However, these do not appear to have a significant impact on motor scores, and the availability of long-term data is limited. dDBS is widely accepted, but clinical data justifying its increased complexity and cost are currently sparse.</p><p><strong>Prospero registration number: </strong>CRD42023438056.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"188-198"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142289434","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
Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy. 将 LRP12 CGG 重复扩展与遗传性周围神经病联系起来。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-333403
Takahiro Hobara, Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Tadashi Adachi, Keiko Toyooka, Toru Yamashita, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Hiroshi Takashima
{"title":"Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.","authors":"Takahiro Hobara, Masahiro Ando, Yujiro Higuchi, Jun-Hui Yuan, Akiko Yoshimura, Fumikazu Kojima, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Tadashi Adachi, Keiko Toyooka, Toru Yamashita, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Hiroshi Takashima","doi":"10.1136/jnnp-2024-333403","DOIUrl":"10.1136/jnnp-2024-333403","url":null,"abstract":"<p><strong>Background: </strong>The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions.</p><p><strong>Methods: </strong>We gathered data from 2424 unrelated Japanese patients diagnosed with IPN, among whom 1555 cases with unidentified genetic causes, as determined through comprehensive prescreening analyses, were selected for the study. Screening for CGG non-coding repeat expansions in <i>LRP12</i>, <i>GIPC1</i> and <i>RILPL1</i> genes was conducted using PCR and long-read sequencing technologies.</p><p><strong>Results: </strong>We identified CGG repeat expansions in <i>LRP12</i> from 44 cases, establishing it as the fourth most common aetiology in Japanese IPN. Most cases (29/37) exhibited distal limb weakness, without ptosis, ophthalmoplegia, facial muscle weakness or bulbar palsy. Neurogenic changes were frequently observed in both needle electromyography (97%) and skeletal muscle tissue (100%). In nerve conduction studies, 28 cases primarily showed impairment in motor nerves without concurrent involvement of sensory nerves, consistent with the phenotype of hereditary motor neuropathy. In seven cases, both motor and sensory nerves were affected, resembling the Charcot-Marie-Tooth (CMT) phenotype. Importantly, the mean CGG repeat number detected in the present patients was significantly shorter than that of patients with <i>LRP12</i>-oculopharyngodistal myopathy (p<0.0001). Additionally, <i>GIPC1</i> and <i>RILPL1</i> repeat expansions were absent in our IPN cases.</p><p><strong>Conclusion: </strong>We initially elucidate <i>LRP12</i> repeat expansions as a prevalent cause of CMT, highlighting the necessity for an adapted screening strategy in clinical practice, particularly when addressing patients with IPN.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"140-149"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626937","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
Association between heavy alcohol consumption and cryptogenic ischaemic stroke in young adults: a case-control study. 年轻人大量饮酒与隐源性缺血性中风之间的关系:一项病例对照研究。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-333759
Nicolas Martinez-Majander, Shakar Kutal, Pauli Ylikotila, Nilufer Yesilot, Lauri Tulkki, Marialuisa Zedde, Tomi Sarkanen, Ulla Junttola, Annika Nordanstig, Annette Fromm, Kristina Ryliskiene, Radim Licenik, Phillip Ferdinand, Dalius Jatuzis, Liisa Kõrv, Janika Kõrv, Alessandro Pezzini, Suvi Tuohinen, Juha Sinisalo, Mika Lehto, Eva Gerdts, Essi Ryödi, Jaana Autere, Marja Hedman, Ana Catarina Fonseca, Ulrike Waje-Andreassen, Bettina von Sarnowski, Petra Redfors, Tiina Sairanen, Turgut Tatlisumak, Risto O Roine, Juha Huhtakangas, Heikki Numminen, Pekka Jäkälä, Jukka Putaala
{"title":"Association between heavy alcohol consumption and cryptogenic ischaemic stroke in young adults: a case-control study.","authors":"Nicolas Martinez-Majander, Shakar Kutal, Pauli Ylikotila, Nilufer Yesilot, Lauri Tulkki, Marialuisa Zedde, Tomi Sarkanen, Ulla Junttola, Annika Nordanstig, Annette Fromm, Kristina Ryliskiene, Radim Licenik, Phillip Ferdinand, Dalius Jatuzis, Liisa Kõrv, Janika Kõrv, Alessandro Pezzini, Suvi Tuohinen, Juha Sinisalo, Mika Lehto, Eva Gerdts, Essi Ryödi, Jaana Autere, Marja Hedman, Ana Catarina Fonseca, Ulrike Waje-Andreassen, Bettina von Sarnowski, Petra Redfors, Tiina Sairanen, Turgut Tatlisumak, Risto O Roine, Juha Huhtakangas, Heikki Numminen, Pekka Jäkälä, Jukka Putaala","doi":"10.1136/jnnp-2024-333759","DOIUrl":"10.1136/jnnp-2024-333759","url":null,"abstract":"<p><strong>Background: </strong>The underlying risk factors for young-onset cryptogenic ischaemic stroke (CIS) remain unclear. This multicentre study aimed to explore the association between heavy alcohol consumption and CIS with subgroup analyses stratified by sex and age.</p><p><strong>Methods: </strong>Altogether, 540 patients aged 18-49 years (median age 41; 47.2% women) with a recent CIS and 540 sex-matched and age-matched stroke-free controls were included. Heavy alcohol consumption was defined as >7 (women) and >14 (men) units per week or at least an average of two times per month ≥5 (women) and ≥7 (men) units per instance (binge drinking). A conditional logistic regression adjusting for age, sex, education, hypertension, cardiovascular diseases, diabetes, hypercholesterolaemia, current smoking, obesity, diet and physical inactivity was used to assess the independent association between alcohol consumption and CIS.</p><p><strong>Results: </strong>Patients were twice as more often heavy alcohol users compared with controls (13.7% vs 6.7%, p<0.001), were more likely to have hypertension and they were more often current smokers, overweight and physically inactive. In the entire study population, heavy alcohol consumption was independently associated with CIS (adjusted OR 2.11; 95% CI 1.22 to 3.63). In sex-specific analysis, heavy alcohol consumption was associated with CIS in men (2.72; 95% CI 1.25 to 5.92), but not in women (1.56; 95% CI 0.71 to 3.41). When exploring the association with binge drinking alone, a significant association was shown in the entire cohort (2.43; 95% CI 1.31 to 4.53) and in men (3.36; 95% CI 1.44 to 7.84), but not in women.</p><p><strong>Conclusions: </strong>Heavy alcohol consumption, particularly binge drinking, appears to be an independent risk factor in young men with CIS.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"114-121"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141436985","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
Spinal cord motor neuron phenotypes and polygenic risk scores in sporadic amyotrophic lateral sclerosis: deciphering the disease pathology and therapeutic potential of ropinirole hydrochloride. 散发性肌萎缩侧索硬化症的脊髓运动神经元表型和多基因风险评分:解读疾病病理和盐酸罗匹尼罗的治疗潜力。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-333690
Chris Kato, Satoru Morimoto, Shinichi Takahashi, Shinichi Namba, Qingbo S Wang, Yukinori Okada, Hideyuki Okano
{"title":"Spinal cord motor neuron phenotypes and polygenic risk scores in sporadic amyotrophic lateral sclerosis: deciphering the disease pathology and therapeutic potential of ropinirole hydrochloride.","authors":"Chris Kato, Satoru Morimoto, Shinichi Takahashi, Shinichi Namba, Qingbo S Wang, Yukinori Okada, Hideyuki Okano","doi":"10.1136/jnnp-2024-333690","DOIUrl":"10.1136/jnnp-2024-333690","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"199-201"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132956","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
Effectiveness of the Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence of people living with dementia: a multicentre, pragmatic, randomised, open-label, controlled trial. 跨学科家庭康复项目(I-HARP)改善痴呆症患者功能独立性的有效性:一项多中心、实用、随机、开放标签、对照试验
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-334514
Yun-Hee Jeon, Judy Simpson, Judith Fethney, Luisa Krein, Mirim Shin, Lee-Fay Low, Robert T Woods, Loren Mowszowski, Sarah Hilmer, Sharon L Naismith, Lindy Clemson, Henry Brodaty, Vasi Naganathan, Amanda Miller Amberber, Danelle Kenny, Laura Gitlin, Sarah Szanton
{"title":"Effectiveness of the Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence of people living with dementia: a multicentre, pragmatic, randomised, open-label, controlled trial.","authors":"Yun-Hee Jeon, Judy Simpson, Judith Fethney, Luisa Krein, Mirim Shin, Lee-Fay Low, Robert T Woods, Loren Mowszowski, Sarah Hilmer, Sharon L Naismith, Lindy Clemson, Henry Brodaty, Vasi Naganathan, Amanda Miller Amberber, Danelle Kenny, Laura Gitlin, Sarah Szanton","doi":"10.1136/jnnp-2024-334514","DOIUrl":"https://doi.org/10.1136/jnnp-2024-334514","url":null,"abstract":"<p><strong>Background: </strong>We investigated the effectiveness of an Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence, health and well-being of people with dementia, family carer outcomes and costs.</p><p><strong>Method: </strong>A multicentre pragmatic parallel-arm randomised controlled trial compared I-HARP to usual care in community-dwelling people with mild to moderate dementia and their family carers in Sydney, Australia (2018-2022). I-HARP is a 4-month, home-based, dementia rehabilitation model delivered by an interdisciplinary team. Assessments were conducted at baseline (time-1), 4-month (time-2) and 12-month (time-3) follow-up. The primary outcome measure was the client's functional independence using the Disability Assessment for Dementia (DAD) scale at time-2, based on intention-to-treat analyses.</p><p><strong>Result: </strong>Of 130 recruited client-carer dyads, 116 dyads (58/group) completed the trial. The I-HARP group were not significantly better in most outcome measures than usual care at both time-2 and time-3; with the only statistically significant difference being a reduction in home environment hazards at time-2. Post hoc subgroup analysis of 66 clients with mild dementia found significantly better functional independence in the intervention group compared with those in usual care: difference 8.99 on DAD (95% CI 1.21, 16.79) at time-2 and difference 12.16 (95% CI 1.93, 22.38) at time-3. Economic evaluation suggests potentially lower resource use in I-HARP compared with usual care, but the cost-effectiveness is uncertain.</p><p><strong>Conclusion: </strong>Primary outcomes were not met for a population of people with dementia, with severity ranging from mild to moderate and severe. The I-HARP model appeared to benefit functional independence of participants with mild dementia, with potential cost savings.</p><p><strong>Trial registration number: </strong>ACTRN12618000600246.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":""},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006788","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
Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis. 在肌萎缩性脊髓侧索硬化症患者中发现 ARPP21 的致病突变。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-333834
Oriol Dols-Icardo, Álvaro Carbayo, Ivonne Jericó, Olga Blasco-Martínez, Esther Álvarez-Sánchez, Maria Angeles López Pérez, Sara Bernal, Benjamín Rodríguez-Santiago, Ivon Cusco, Janina Turon-Sans, Manuel Cabezas-Torres, Marta Caballero-Ávila, Ana Vesperinas, Laura Llansó, Inmaculada Pagola-Lorz, Laura Torné, Natalia Valle-Tamayo, Laia Muñoz, Sara Rubio-Guerra, Ignacio Illán-Gala, Elena Cortés-Vicente, Ellen Gelpi, Ricard Rojas-García
{"title":"Identification of a pathogenic mutation in <i>ARPP21</i> in patients with amyotrophic lateral sclerosis.","authors":"Oriol Dols-Icardo, Álvaro Carbayo, Ivonne Jericó, Olga Blasco-Martínez, Esther Álvarez-Sánchez, Maria Angeles López Pérez, Sara Bernal, Benjamín Rodríguez-Santiago, Ivon Cusco, Janina Turon-Sans, Manuel Cabezas-Torres, Marta Caballero-Ávila, Ana Vesperinas, Laura Llansó, Inmaculada Pagola-Lorz, Laura Torné, Natalia Valle-Tamayo, Laia Muñoz, Sara Rubio-Guerra, Ignacio Illán-Gala, Elena Cortés-Vicente, Ellen Gelpi, Ricard Rojas-García","doi":"10.1136/jnnp-2024-333834","DOIUrl":"10.1136/jnnp-2024-333834","url":null,"abstract":"<p><strong>Background and objective: </strong>Between 5% and 10% of amyotrophic lateral sclerosis (ALS) cases have a family history of the disease, 30% of which do not have an identifiable underlying genetic cause after a comprehensive study of the known ALS-related genes. Based on a significantly increased incidence of ALS in a small geographical region from Spain, the aim of this work was to identify novel ALS-related genes in ALS cases with negative genetic testing.</p><p><strong>Methods: </strong>We detected an increased incidence of both sporadic and, especially, familial ALS cases in a small region from Spain compared with available demographic and epidemiological data. We performed whole genome sequencing in a group of 12 patients with ALS (5 of them familial) from this unique area. We expanded the study to include affected family members and additional cases from a wider surrounding region.</p><p><strong>Results: </strong>We identified a shared missense mutation (c.1586C>T; p.Pro529Leu) in the cyclic AMP regulated phosphoprotein 21 (<i>ARPP21)</i> gene that encodes an RNA-binding protein, in a total of 10 patients with ALS from 7 unrelated families. No mutations were found in other ALS-causing genes.</p><p><strong>Conclusions: </strong>While previous studies have dismissed a causal role of <i>ARPP21</i> in ALS, our results strongly support <i>ARPP21</i> as a novel ALS-causing gene.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"132-139"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141498248","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
Vitamin D affects the risk of disease activity in multiple sclerosis. 维生素 D 会影响多发性硬化症的疾病活动风险。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-334062
Antonino Giordano, Ferdinando Clarelli, Béatrice Pignolet, Elisabetta Mascia, Melissa Sorosina, Kaalindi Misra, Laura Ferrè, Florence Bucciarelli, Ali Manouchehrinia, Lucia Moiola, Vittorio Martinelli, Maria A Rocca, Roland Liblau, Massimo Filippi, Federica Esposito
{"title":"Vitamin D affects the risk of disease activity in multiple sclerosis.","authors":"Antonino Giordano, Ferdinando Clarelli, Béatrice Pignolet, Elisabetta Mascia, Melissa Sorosina, Kaalindi Misra, Laura Ferrè, Florence Bucciarelli, Ali Manouchehrinia, Lucia Moiola, Vittorio Martinelli, Maria A Rocca, Roland Liblau, Massimo Filippi, Federica Esposito","doi":"10.1136/jnnp-2024-334062","DOIUrl":"10.1136/jnnp-2024-334062","url":null,"abstract":"<p><strong>Background: </strong>Vitamin D (VitD) affects the risk of multiple sclerosis (MS), but the impact on disease activity is controversial. We assessed whether VitD is associated with the No-Evidence of Disease Activity-3 (NEDA-3) status at 2 years from disease-modifying treatment (DMT) start, and whether this association is causal or the result of confounding factors. Furthermore, we explored if a genetic predisposition to higher VitD levels affects the risk of disease activity.</p><p><strong>Methods: </strong>230 untreated relapsing-remitting MS patients underwent serum 25-OH-vitamin-D measurement, and the association between seasonally adjusted VitD and disease activity was tested. Modelling a Polygenic Risk Score from a Genome-Wide Association Study on ~400 000 individuals, we studied the impact of genetic predisposition to higher VitD on the NEDA-3 status in 1408 independent MS patients. Two-sample Mendelian randomisation (MR) was used to assess causality.</p><p><strong>Results: </strong>Lower baseline VitD was associated with decreased probability of NEDA-3 at 2 years (p=0.019). Particularly, VitD levels <20 ng/mL conferred an over twofold risk of disease activity (OR 2.36, 95% CI 1.30 to 3.88, p=0.0037). Genetic predisposition to higher VitD levels was associated with delayed age at MS onset (p=0.018) and with a higher probability of NEDA-3 status (p=0.034). MR confirmed causality between VitD and the risk of disease activity (p=0.041).</p><p><strong>Conclusions: </strong>VitD levels before DMT start affect the risk of disease activity in MS. Genetic predisposition to higher VitD levels confers a lower risk of disease activity and is associated with delayed MS onset. Our work prompts future prospective studies regarding VitD supplementation and lifestyle interventions to hamper disease activity in MS.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"170-176"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616598","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
Ischaemic stroke in the young-is it time to consider alcohol reduction for stroke prevention? 年轻人缺血性中风--现在是考虑减少饮酒以预防中风的时候了吗?
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-334319
Ken Uchino
{"title":"Ischaemic stroke in the young-is it time to consider alcohol reduction for stroke prevention?","authors":"Ken Uchino","doi":"10.1136/jnnp-2024-334319","DOIUrl":"10.1136/jnnp-2024-334319","url":null,"abstract":"","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"104"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108293","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
Novel observation for adult ataxia-telangiectasia: evaluating the lack of hypointensity of the dentate nuclei. 对成人共济失调-特朗日病的新观察:评估齿状核缺乏低密度。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-334398
May Yung Tiet, Daniel Scoffings, Caroline Blanchard, Robert A Dineen, Rita Horvath, Anke Hensiek
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引用次数: 0
Functional pathology of neuroleptic-induced dystonia based on the striatal striosome-matrix dopamine system in humans. 基于纹状体-基质多巴胺系统的抗精神病药诱导的肌张力障碍的功能病理学。
IF 8.7 1区 医学
Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2025-01-16 DOI: 10.1136/jnnp-2024-334545
Satoshi Goto
{"title":"Functional pathology of neuroleptic-induced dystonia based on the striatal striosome-matrix dopamine system in humans.","authors":"Satoshi Goto","doi":"10.1136/jnnp-2024-334545","DOIUrl":"10.1136/jnnp-2024-334545","url":null,"abstract":"<p><p>Neuroleptic-induced dystonia is a source of great concern in clinical practice because of its iatrogenic nature which can potentially lead to life-threatening conditions. Since all neuroleptics (antipsychotics) share the ability to block the dopamine D<sub>2</sub>-type receptors (D<sub>2</sub>Rs) that are highly enriched in the striatum, this drug-induced dystonia is thought to be caused by decreased striatal D<sub>2</sub>R activity. However, how associations of striatal D<sub>2</sub>R inactivation with dystonia are formed remains elusive.A growing body of evidence suggests that imbalanced activities between D<sub>1</sub>R-expressing medium spiny neurons and D<sub>2</sub>R-expressing medium spiny neurons (D<sub>1</sub>-MSNs and D<sub>2</sub>-MSNs) in the striatal striosome-matrix system underlie the pathophysiology of various basal ganglia disorders including dystonia. Given the specificity of the striatal dopamine D<sub>1</sub> system in 'humans', this article highlights the striatal striosome hypothesis in causing 'repetitive' and 'stereotyped' motor symptoms which are key clinical features of dystonia. It is suggested that exposure to neuroleptics may reduce striosomal D<sub>1</sub>-MSN activity and thereby cause dystonia symptoms. This may occur through an increase in the striatal cholinergic activity and the collateral inhibitory action of D<sub>2</sub>-MSNs onto neighbouring D<sub>1</sub>-MSNs within the striosome subfields. The article proposes a functional pathology of the striosome-matrix dopamine system for neuroleptic-induced acute dystonia or neuroleptic-withdrawal dystonia. A rationale for the effectiveness of dopaminergic or cholinergic pharmacotherapy is also provided for treating dystonias. This narrative review covers various aspects of the relevant field and provides a detailed discussion of the mechanisms of neuroleptic-induced dystonia.</p>","PeriodicalId":16418,"journal":{"name":"Journal of Neurology, Neurosurgery, and Psychiatry","volume":" ","pages":"177-183"},"PeriodicalIF":8.7,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780397","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
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