Journal of the Neurological Sciences最新文献

{"title":"Cerebrospinal fluid biomarkers in early parkinsonism: Parsing disease from comorbidity","authors":"Christian Messina","doi":"10.1016/j.jns.2025.123714","DOIUrl":"10.1016/j.jns.2025.123714","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123714"},"PeriodicalIF":3.2,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145220424","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":"Development of cognitive/behavioral disturbances in motor neuron diseases with pure motor onset: can we predict it?","authors":"Manuel Bicaj ,&nbsp;Francesca Oliveri ,&nbsp;Chiara Rossi ,&nbsp;Andrea Rosano ,&nbsp;Antonio Uccelli ,&nbsp;Claudia Caponnetto ,&nbsp;Pilar M. Ferraro","doi":"10.1016/j.jns.2025.123707","DOIUrl":"10.1016/j.jns.2025.123707","url":null,"abstract":"<div><h3>Background</h3><div>Approximately 50 % of motor neuron disease (MND) patients manifest cognitive and/or behavioral impairment (C/BI). Notably, while some patients exhibit those disturbances from disease onset, others develop them during disease course, but the determinants of such phenomenon are still largely unknown.</div></div><div><h3>Objectives</h3><div>This study aimed at identifying baseline predictors of subsequent C/BI development in MNDs.</div></div><div><h3>Methods</h3><div>Pure motor MND cases with longitudinal Edinburgh Cognitive and Behavioral ALS screen (ECAS) exams were included (<em>N</em> = 80). Based on longitudinal data, patients were categorized as either remaining motor (“<em>non-converters</em>”, <em>N</em> = 55) or developing C/BI (“<em>converters</em>”, <em>N</em> = 25). Demographic, genetic, baseline motor and cognitive/behavioral features (with relative progression rates) were compared between groups using Mann-Whitney U and Chi-squared tests. Logistic regression models were used to identify significant predictors of C/BI development.</div></div><div><h3>Results</h3><div>Relative to <em>non-converters</em>, <em>converters</em> cases exhibited older age at symptoms onset/first visit (<em>p</em> = 0.02, <em>p</em> = 0.01), lower frequency of right limbs onset (<em>p</em> = 0.02), lower ECAS alternation (p = 0.01), spelling (p = 0.02) and fluency letter S (<em>p</em> = 0.05) scores, as well as higher alternation (<em>p</em> = 0.004) and spelling (<em>p</em> = 0.006) progression rates, albeit those contrasts did not survive correction for multiple comparisons. All variables except for the spelling score and progression rates were predictive of C/BI development (p from 0.002 to 0.03).</div></div><div><h3>Discussion</h3><div>While no firm conclusions can be drawn due to the lack of results surviving correction, our study suggests that specific clinical features significantly predict C/BI development in MNDs. These findings may facilitate an earlier identification of patients at risk for extra-motor symptoms development, enabling a more tailored clinical management.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123707"},"PeriodicalIF":3.2,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206776","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":"Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3","authors":"Kenta Orimo ,&nbsp;Takashi Matsukawa ,&nbsp;Kazutaka Shiomi ,&nbsp;Ryoji Goto ,&nbsp;Akihiko Mitsutake ,&nbsp;Yumiko Kuromi ,&nbsp;Nozomu Matsuda ,&nbsp;Kazuaki Kanai ,&nbsp;Ryo Kurokawa ,&nbsp;Hiroyuki Ishiura ,&nbsp;Jun Mitsui ,&nbsp;Junko Nomoto ,&nbsp;Masaki Tanaka ,&nbsp;Yosuke Omae ,&nbsp;Yosuke Kawai ,&nbsp;Katsushi Tokunaga ,&nbsp;Shoji Tsuji ,&nbsp;Tatsushi Toda","doi":"10.1016/j.jns.2025.123708","DOIUrl":"10.1016/j.jns.2025.123708","url":null,"abstract":"<div><div><em>CST3</em> (NM_000099.4) encodes cystatin C, whose C-terminal truncating variants in this gene have recently been reported to cause adult-onset leukoencephalopathy, characterized by headaches, transient neurological symptoms, and distinct imaging findings. We present four patients from two Japanese families, including one with a novel variant (c.358-2_395del). Three patients from one family developed chronic headaches around the age of 20, whereas the patient from the other family remained asymptomatic until his fifties. mRNA analysis of the patient with c.358-2_395del revealed a splicing alteration leading to an in-frame deletion (p.Lys120_Gln133del), representing the first <em>CST3</em> variant that does not result in a truncated protein. These findings broaden our understanding of the clinical and genetic spectra of <em>CST3</em>-related leukoencephalopathy (114 words).</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123708"},"PeriodicalIF":3.2,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206733","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":"Measuring health-related quality of life in spinal muscular atrophy – Lessons learned from a Nationwide registry study in Germany","authors":"Erik Landfeldt ,&nbsp;Berenike Leibrock ,&nbsp;Justine Hussong ,&nbsp;Simone Thiele ,&nbsp;Maggie C. Walter ,&nbsp;Eva Moehler ,&nbsp;Michael Zemlin ,&nbsp;Ulrich Dillmann ,&nbsp;Marina Flotats-Bastardas","doi":"10.1016/j.jns.2025.123704","DOIUrl":"10.1016/j.jns.2025.123704","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123704"},"PeriodicalIF":3.2,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145220423","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: Steroid-sparing implications of efgartigimod in generalized myasthenia gravis","authors":"Nav La ,&nbsp;Schawanya K. Rattanapitoon ,&nbsp;Nathkapach K. Rattanapitoon","doi":"10.1016/j.jns.2025.123705","DOIUrl":"10.1016/j.jns.2025.123705","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123705"},"PeriodicalIF":3.2,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145154935","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":"Corrigendum to “The intersection of race and sex on the clinical and cognitive progression of multiple sclerosis” [Journal of the Neurological Sciences, 466 (2024) 123260]","authors":"Shannin N. Moody ,&nbsp;Morganne Manuel ,&nbsp;Auriel Willette ,&nbsp;Elizabeth Shirtcliff ,&nbsp;Brian Copeland ,&nbsp;Jesus Lovera ,&nbsp;Deidre Devier","doi":"10.1016/j.jns.2025.123697","DOIUrl":"10.1016/j.jns.2025.123697","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123697"},"PeriodicalIF":3.2,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145106202","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":"Reassessing the steroid-sparing potential of efgartigimod in gMG","authors":"Jie Yuan,&nbsp;Xuemei Li,&nbsp;Yuan Liu","doi":"10.1016/j.jns.2025.123706","DOIUrl":"10.1016/j.jns.2025.123706","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123706"},"PeriodicalIF":3.2,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206747","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":"Further exploration of functional cognitive impairment in Alzheimer's disease","authors":"Leqi Gao,&nbsp;Hongwei An","doi":"10.1016/j.jns.2025.123702","DOIUrl":"10.1016/j.jns.2025.123702","url":null,"abstract":"","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123702"},"PeriodicalIF":3.2,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145154934","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":"West Nile virus neuroinvasive disease: Clinical characteristics and prognostic factors","authors":"Tali Elkanovich ,&nbsp;Gal Tsur ,&nbsp;Keshet Pardo ,&nbsp;Jonathan Naftali ,&nbsp;Hadas Hodadov ,&nbsp;Nir Cafri ,&nbsp;Shelly Degani Schwalm ,&nbsp;Galit Vinokur ,&nbsp;Ilan Goldberg ,&nbsp;Oded Shor ,&nbsp;Yair Mina ,&nbsp;Eitan Auriel ,&nbsp;Felix Benninger ,&nbsp;Adi Wilf-Yarkoni","doi":"10.1016/j.jns.2025.123700","DOIUrl":"10.1016/j.jns.2025.123700","url":null,"abstract":"<div><h3>Background</h3><div>In 2024, Israel experienced its largest West Nile Virus (WNV) outbreak, with 922 confirmed cases. WNV is a leading global cause of viral encephalitis. This study aimed to identify clinical features and prognostic factors associated with neuroinvasive WNV in hospitalized patients.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed hospitalized patients with confirmed WNV at a tertiary center in Israel (January–September 2024). Patients were categorized as neuroinvasive or non-neuroinvasive. Demographic, clinical, and outcome data were analyzed. Primary outcome was 16-week mortality; secondary was functional decline (modified Rankin Scale, mRS).</div></div><div><h3>Results</h3><div>Of 166 hospitalized patients, 93 (56 %) had neuroinvasive WNV, primarily encephalitis (90 %). Neuroinvasive disease was linked to higher mortality (36 % vs. 13 %, <em>p</em> &lt; 0.01) and worse functional outcomes (median mRS 4 ± 2 vs. 2 ± 2, <em>p</em> = 0.02). No significant differences in age, sex, comorbidities, or immunosuppression were found between groups. Among neuroinvasive cases, encephalitis, seizures, and autonomic dysfunction were associated with poorer outcomes. Lower pre-morbid function did not predicted greater decline. EEG in 28 encephalitis patients showed abnormalities in 71 %, mainly diffuse slowing; epileptiform activity was rare. Quantitative EEG revealed increased delta power and more frequent paroxysmal slow wave events(PSWE), which correlated with worse functional status.</div></div><div><h3>Conclusions</h3><div>Neuroinvasive WNV is associated with substantial morbidity and mortality. Traditional risk factors like age were not predictive of poor outcomes. Instead, clinical features such as autonomic dysfunction and novel markers like quantitative EEG abnormalities may serve as valuable prognostic tools. These findings underscore the need for improved risk stratification strategies in WNV neuroinvasive disease.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123700"},"PeriodicalIF":3.2,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145096803","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":"Clinical features and prognosis of postpartum lower extremity nerve injury: A four-year single-center experience in Israel","authors":"Emily Lebedkin ,&nbsp;Shlomi Shmuel ,&nbsp;Arava Nir ,&nbsp;Itzhak Kimiagar ,&nbsp;Shlomi Peretz ,&nbsp;Gilad Kenan","doi":"10.1016/j.jns.2025.123698","DOIUrl":"10.1016/j.jns.2025.123698","url":null,"abstract":"<div><h3>Background</h3><div>Postpartum lower extremity nerve injury (LENI) is a recognized but often underdiagnosed complication of childbirth, presenting with symptoms ranging from transient sensory disturbances to persistent motor deficits. Although the reported incidence is low, research on the topic remains limited, and no studies to date have examined this phenomenon in the Israeli population.</div></div><div><h3>Methods</h3><div>A retrospective review was conducted of 531 neurological consultations from the maternity ward at Shamir Medical Center between 2019 and 2022. Cases of suspected LENI – postpartum leg weakness, paresthesia, or difficulty walking - were further analysed. Clinical data, delivery characteristics, and electrophysiological findings were reviewed.</div></div><div><h3>Results</h3><div>Among 33,404 deliveries during the study period, 23 cases of suspected LENI were identified (0.069 %). Most women (61 %) presented with isolated sensory symptoms, primarily in the distribution of the lateral femoral cutaneous nerve. Nine women (39 %) exhibited motor deficits, predominantly following vaginal deliveries with epidural anaesthesia. In 67 % of motor cases, symptoms affected the right side. While most patients experienced full recovery within weeks, 22 % reported persistent symptoms at follow-up.</div></div><div><h3>Conclusion</h3><div>LENI is a rare complication of childbirth, generally associated with a favorable prognosis. The observed incidence at Shamir Medical Center was low, possibly reflecting underdiagnosis of milder cases. This is the first study to characterize postpartum LENI in the Israeli population. A prospective study is planned to further elucidate its pathophysiology and risk factors.</div></div>","PeriodicalId":17417,"journal":{"name":"Journal of the Neurological Sciences","volume":"478 ","pages":"Article 123698"},"PeriodicalIF":3.2,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091977","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}