European Journal of Neurology最新文献

{"title":"A roadmap toward promoting and improving brain health in Europe and closing the awareness and funding gap","authors":"Paul A. J. M. Boon,&nbsp;Thomas Berger,&nbsp;Matilde Leonardi,&nbsp;Tony Marson,&nbsp;Ulf Kallweit,&nbsp;Elena Moro,&nbsp;Antonio Toscano,&nbsp;Irena Rektorova,&nbsp;Alice Accorroni,&nbsp;Charlotte Scheerens,&nbsp;Antonia Boesch,&nbsp;Michael Crean,&nbsp;Anja Sander,&nbsp;Simon Lee,&nbsp;Claudio L. A. Bassetti","doi":"10.1111/ene.16589","DOIUrl":"10.1111/ene.16589","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>The global burden of neurological diseases exceeds 43.1%, imposing a significant burden on patients, caregivers and society. This paper presents a roadmap to reduce this burden and improve brain health (BH) in Europe.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The roadmap is based on the European Academy of Neurology's (EAN) five-pillar BH strategy: advancing a global BH approach (P1), supporting policymaking (P2), fostering research (P3), promoting education (P4), and raising awareness of prevention and treatment (P5). It reviews current efforts, collaborations and future directions aligned with the WHO Intersectoral Global Action Plan (iGAP) for Neurological Disorders and suggests future initiatives and call for action.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <div>\u0000 \u0000 <ol>\u0000 \u0000 \u0000 <li>P1: Support WHO-iGAP through defined action points, international collaborations, in particular, the WHO BH Unit, and the EAN Brain Health Mission.</li>\u0000 \u0000 \u0000 <li>P2: Collaborate with 48 national neurological societies to promote National Brain Plans (NBPs), addressing local needs, and improving access to care.</li>\u0000 \u0000 \u0000 <li>P3: Advocate for more research funding; identify determinants of BH; develop preventive measures.</li>\u0000 \u0000 \u0000 <li>P4: Provide educational opportunities for neurologists, public education programs, and advocacy training, including tools to educate the public.</li>\u0000 \u0000 \u0000 <li>P5: Spearhead global awareness campaigns, organize public educational activities, and train BH advocates to contribute toward sustainable and long-term public health campaigns and policy engagement.</li>\u0000 </ol>\u0000 </div>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The paper highlights the importance of a unified approach, integrating international collaborations and local initiatives, to improve BH outcomes based on the WHO-iGAP, and support sustainable development goals, in particular SDG 3: Good Health and Well-being and SDG 4: Quality Education.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735729/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143002490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lyme neuroborreliosis in Japan: Borrelia burgdorferi sensu lato as a cause of meningitis of previously undetermined etiology in hospitalized patients outside of the island of Hokkaido, 2010–2021","authors":"Masayuki Ohira,&nbsp;Ai Takano,&nbsp;Kentaro Yoshi,&nbsp;Akira Arai,&nbsp;Yashuhiro Aso,&nbsp;Rikiya Furutani,&nbsp;Tadanori Hamano,&nbsp;Ikuko Takahashi-Iwata,&nbsp;Chikako Kaneko,&nbsp;Tohru Matsuura,&nbsp;Norihisa Maeda,&nbsp;Hideto Nakajima,&nbsp;Katsuro Shindo,&nbsp;Toshihiko Suenaga,&nbsp;Kazuma Sugie,&nbsp;Yasuhiro Suzuki,&nbsp;Toru Yamashita,&nbsp;Frederick J. Angulo,&nbsp;Juanita Edwards,&nbsp;Cody Matthew Bender,&nbsp;Lisa R. Harper,&nbsp;Yoshikazu Nakayama,&nbsp;Shuhei Ito,&nbsp;Andreas Pilz,&nbsp;James H. Stark,&nbsp;Jennifer C. Moïsi,&nbsp;Hidehiro Mizusawa,&nbsp;Masaki Takao","doi":"10.1111/ene.70005","DOIUrl":"10.1111/ene.70005","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Purpose</h3>\u0000 \u0000 <p>Clinical manifestations of Lyme borreliosis (LB), caused by <i>Borrelia burgdorferi</i> sensu lato (Bbsl), include erythema migrans, Lyme neuroborreliosis (LNB), carditis, and arthritis. LB is a notifiable disease in Japan with &lt;30 surveillance-reported LB cases annually, predominately from Hokkaido Prefecture. However, LB, including LNB, may be under-diagnosed in Japan since diagnostic tests are not readily available. We sought to determine if LNB could be a cause of previously undiagnosed encephalitis or meningitis in Japan.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Investigators at 15 hospitals in 10 prefectures throughout Japan retrieved serum and/or cerebrospinal fluid (CSF) samples collected in 2010–2021 from 517 patients hospitalized with encephalitis or meningitis which had an etiology that had not been determined. Samples were tested for Bbsl-specific antibodies using ELISA and Western blot tests. In alignment with the European Union LNB case definition, a confirmed LNB case had CSF pleocytosis and intrathecal production of Bbsl-specific antibodies and a probable LNB case had a CSF sample with pleocytosis and Bbsl-specific antibodies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>LNB was identified in three hospitalized patients with meningitis of previously undetermined etiology: a male resident of Aomori Prefecture was a confirmed LNB case, and two female residents of Oita Prefecture were probable LNB cases. None of the patients with confirmed or probable LNB had traveled in the month prior to symptom onset and none had samples previously tested for LB.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The identification of previously undiagnosed LNB cases indicates a need for enhanced disease awareness in Japan, particularly beyond Hokkaido Island, and more readily available LB diagnostic testing.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with true-positive and false-positive diagnoses of behavioural variant frontotemporal dementia in 100 consecutive referrals from specialist physicians","authors":"Joshua Flavell,&nbsp;Emily G. M. Ahern,&nbsp;Benignus Logan,&nbsp;Thomas B. Shaw,&nbsp;Robert J. Adam,&nbsp;Caitlin A. T. McElligott,&nbsp;Peter J. Nestor","doi":"10.1111/ene.70036","DOIUrl":"10.1111/ene.70036","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The behavioural variant of frontotemporal dementia (bvFTD) is a challenging diagnosis due to overlapping symptoms with psychiatric and other neurological conditions. Accordingly, misdiagnosis is common. The present study aimed to identify clinical factors contributing to misdiagnoses of bvFTD by specialist physicians.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analysed 100 consecutive referrals by specialist physicians (primarily psychiatrists, neurologists and geriatricians) to a tertiary cognitive disorders clinic specializing in frontotemporal lobar degenerative disorders. Patients were included if the referring specialist suspected bvFTD or if bvFTD was confirmed as the final diagnosis. Diagnostic factors were assessed by comparing the initial referral information with final clinical diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 100 patients, 34 were true-positive and 66 were false-positive for bvFTD. False-positive diagnoses were often based on misinterpretation of neuroimaging, particularly nuclear imaging (FDG-PET and HMPAO-SPECT), where subjective interpretation errors led to incorrect bvFTD diagnoses in 32 patients. Cognitive testing also contributed to misdiagnosis, with formal neuropsychological testing incorrectly leading to a bvFTD diagnosis in 20 patients. Patients with prior psychiatric histories were more likely to be misdiagnosed. Observable behavioural features of bvFTD and physical neurological signs were significantly more prevalent in true-positive patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Misinterpretation of neuroimaging and cognitive testing, in particular formal neuropsychological testing, significantly contributed to false-positive bvFTD diagnoses. Physicians should be cautious not to over-interpret neuroimaging and neuropsychology studies and be wary of patients with prior psychiatric histories. In contrast, greater weight should be placed on objective clinical observations of behavioural signs of bvFTD and the emergence of physical neurological signs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11733081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142983181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Sex on Clinical Outcomes of Tandem Occlusion in Acute Ischemic Stroke Patients Treated With Mechanical Thrombectomy. A Propensity-Matched Analysis","authors":"Lucio D'Anna,&nbsp;Matteo Foschi,&nbsp;Mariarosaria Valente,&nbsp;Liqun Zhang,&nbsp;Simona Sacco,&nbsp;Raffaele Ornello,&nbsp;Nina Mansoor,&nbsp;Matthew Fallon,&nbsp;Adelaida Gartner Jaramillo,&nbsp;Massimo Sponza,&nbsp;Vladimir Gavrilovic,&nbsp;Kyriakos Lobotesis,&nbsp;Gian Luigi Gigli,&nbsp;Soma Banerjee,&nbsp;Giovanni Merlino","doi":"10.1111/ene.70044","DOIUrl":"10.1111/ene.70044","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Although mechanical thrombectomy (MT) represents the standard of care for ischemic stroke due to large-vessel occlusion (LVO), the impact of sex on outcomes in tandem occlusions remains unclear. We investigated sex-based differences in outcomes after MT for tandem occlusions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This multicenter observational study included consecutive patients with tandem occlusion treated with MT across three stroke centers (2021–2023). Propensity score matching was performed. Primary outcomes were the 90-day favorable functional outcome (mRS 0–2) and mRS score shift. Secondary outcomes included favorable recanalization, 24-h early neurological improvement, and NIHSS median score. Safety outcomes were post-MT intracerebral hemorrhage and 90-day mortality.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 635 patients (46.8% women), 289 women were matched to 289 men. There were no significant differences in primary, secondary, or safety outcomes between sexes. Subgroup analysis showed a lower rate of favorable 90-day mRS scores in women with diabetes compared to men. Women not receiving emergent carotid treatment had higher rates of favourable outcomes. No significant sex differences were found in other subgroups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Women with anterior circulation tandem occlusions treated with MT have similar outcomes to men. However, women with diabetes and those treated with intracranial MT alone exhibited sex-specific differences. Further studies are needed to explore underlying mechanisms.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11726627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS)","authors":"Katia Staedler,&nbsp;Yves Allenbach,&nbsp;Emmanuelle Salort-Campana,&nbsp;Edoardo Malfatti,&nbsp;Aude Rigolet,&nbsp;Shahram Attarian,&nbsp;André Maues de Paula,&nbsp;Sarah Léonard-Louis,&nbsp;Olivier Benveniste,&nbsp;Tanya Stojkovic","doi":"10.1111/ene.70026","DOIUrl":"10.1111/ene.70026","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG-associated myopathies remains poorly described.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To report a newly acquired myopathy associated with MG.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Three adult patients with the same phenotype from two French referral centers were prospectively analyzed. Clinical, electrophysiological, muscle biopsy data, and patients' outcomes under treatment are reported.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The patients, aged 37, 46, and 56 years, presented progressive weakness with subacute worsening and stiffness, in the context of severe weight loss. The weakness mainly involved the proximal limbs and axial muscles. Creatine kinase levels were 1400–2900 IU/L and electromyography revealed a myopathic pattern with spontaneous complex repetitive discharges. Muscle biopsies showed vacuoles containing glycogen and autophagic material along with the presence of sarcolemmal complement membrane attack complex deposits. There was no evidence of a genetic glycogen metabolic disorder. IgGκ monoclonal gammopathy was identified in all cases, without signs of lymphoplasmocytic proliferation. All patients improved with a treatment combining corticosteroids, intravenous immunoglobulins, and immunosuppressants, and two patients recovered walking ability.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion and Relevance</h3>\u0000 \u0000 <p>We report a new muscle disease defined by a vacuolar myopathy characterized by axial and proximal muscle weakness with prominent stiffness and high frequency discharges on electromyography associated with monoclonal gammopathy, defined under the acronym VAMMGAS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11726623/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143055886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Temporal Trends in Hippocampal Sclerosis Surgery: An Observational Study From a Tertiary Epilepsy Centre","authors":"Paola Vassallo,&nbsp;Vaishali Gursal,&nbsp;Weixi Xiong,&nbsp;Dong Zhou,&nbsp;Jane de Tisi,&nbsp;Roland D. Thijs,&nbsp;John S. Duncan,&nbsp;Josemir W. Sander","doi":"10.1111/ene.70041","DOIUrl":"10.1111/ene.70041","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Temporal lobe epilepsy with hippocampal sclerosis (HS) is a surgically remediable syndrome. We determined temporal trends in the prevalence of hippocampal sclerosis surgeries and related factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analysed a prospective cohort of adults who underwent epilepsy surgery at the NHNN, London, between 1990 and 2019. HS group was compared with other pathologies. Demographics, surgical trends for HS and associations with sex, age, prior neurological insults and febrile seizures were analysed. Temporal trends were assessed by one-way or Welch ANOVA, with post hoc analysis. Surgery latency over three decades was evaluated with the Kruskal–Wallis <i>H</i> test, using Dunn's procedure for pairwise comparisons. Chi-squared analyses examined associations with sex, age at operation, febrile seizures, and between resection side and handedness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 1069 people operated, 586 had hippocampal sclerosis. After increasing, surgeries declined in the last decade (from 322 to 131), as did the number of people with hippocampal sclerosis and a history of childhood febrile seizures (from 87 to 23). The median interval from epilepsy onset to surgery increased from 22 to 24 and 27 years over each decade. Female sex and febrile seizures were associated with pathology (HS vs. non-HS) but not age at surgery, previous neurological insults, or the resection side and handedness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Our study confirms the decline in hippocampal surgeries. This trend may be due to changes in the syndrome's natural history, possibly from improved paediatric care, and an increase in complex cases. The impact of delayed referrals, surgical risk fears and newer anti-seizure medications remains unclear.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11727258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study","authors":"Stella Andrea Lischewski,&nbsp;Kerstin Konrad,&nbsp;Imis Dogan,&nbsp;Claire Didszun,&nbsp;Ana Sofia Costa,&nbsp;Sara Annabelle Schawohl,&nbsp;Paola Giunti,&nbsp;Michael H. Parkinson,&nbsp;Caterina Mariotti,&nbsp;Lorenzo Nanetti,&nbsp;Alexandra Durr,&nbsp;Claire Ewenczyk,&nbsp;Sylvia Boesch,&nbsp;Wolfgang Nachbauer,&nbsp;Thomas Klopstock,&nbsp;Claudia Stendel,&nbsp;Francisco Javier Rodríguez de Rivera Garrido,&nbsp;Ludger Schöls,&nbsp;Zofia Fleszar,&nbsp;Thomas Klockgether,&nbsp;Marcus Grobe-Einsler,&nbsp;Ilaria Giordano,&nbsp;Myriam Rai,&nbsp;Massimo Pandolfo,&nbsp;Jörg B. Schulz,&nbsp;Kathrin Reetz,&nbsp;the EFACTS study group","doi":"10.1111/ene.70011","DOIUrl":"10.1111/ene.70011","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants were drawn from the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Age- and sex-specific BMI and height scores were calculated using the KIGGS-BMI percentiles for children. Height correction was applied for scoliosis. Longitudinal data were analysed using linear mixed effects models and incremental standard deviation scores and growth mixture models identified subclasses with varying BMI trajectories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Five hundred and forty-three adults and fifty-nine children were assessed for up to 5 years. In children, severe underweight (26%), underweight (7%), severe short stature (16%) and short stature (23%) were common. The corrected BMI percentile was stable in children, although 48% had negative incremental BMI scores over 1 year and 63% over 3 years versus 10%/year in a normal reference cohort. Overweight was common in adults (19%), with a slight increase in BMI over time. Longer GAA repeat size was linked to lower BMI in adults. Weight trajectory was not associated with ataxia progression in adults.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Significant anthropometric abnormalities were identified, with underweight and short stature prevalent in children and overweight in adults. These findings highlight the need for regular nutritional monitoring and interventions to manage underweight in children and promote healthy weight in adults.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142964288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decreased Structural Connectivity Between Thalamic Nuclei and Hippocampus in Temporal Lobe Epilepsy—A Diffusion Tensor Imaging-Based Study","authors":"Mehmet S. Yildirim,&nbsp;Radheshyam Stepponat,&nbsp;Florian Ph. S. Fischmeister,&nbsp;Matthias Tomschik,&nbsp;Victor Schmidbauer,&nbsp;Farjad Khalaveh,&nbsp;Johannes Koren,&nbsp;Christoph Baumgartner,&nbsp;Ekaterina Pataraia,&nbsp;Silvia Bonelli,&nbsp;Karl Rössler,&nbsp;Gregor Kasprian,&nbsp;Christian Dorfer","doi":"10.1111/ene.70040","DOIUrl":"10.1111/ene.70040","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Temporal lobe epilepsy (TLE) can lead to structural brain abnormalities, with thalamus atrophy being the most common extratemporal alteration. This study used probabilistic tractography to investigate the structural connectivity between individual thalamic nuclei and the hippocampus in TLE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Thirty-six TLE patients who underwent pre-surgical 3 Tesla magnetic resonance imaging (MRI) and 18 healthy controls were enrolled in this study. Patients were subdivided into TLE with HS (TLE-HS) and MRI-negative TLE (TLE-MRneg). Tractography and whole brain segmentation, including thalamus parcellation, were performed to determine the number of streamlines per mm³ between the thalamic nuclei and hippocampus. Connectivity strength and volume of regions were correlated with clinical data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The volume of the entire thalamus ipsilateral to seizure onset was significantly decreased in TLE-HS compared to controls (Mann–Whitney-<i>U</i> test: <i>p</i>_FDR &lt; 0.01) with the anterior thalamic nuclei (ANT) as important contributor. Furthermore, decreased ipsilateral connectivity strength between the hippocampus and ANT was detected in TLE-HS (<i>p</i>_FDR &lt; 0.01) compared to TLE-MRneg and controls which correlated negatively with the duration of epilepsy (<i>ρ</i> = −0.512, <i>p</i> = 0.025) and positively with seizure frequency (<i>ρ</i> = 0.603, <i>p</i> = 0.006). Moreover, ANT volume correlated negatively with epilepsy duration in TLE-HS (<i>ρ</i> = −0.471, <i>p</i> = 0.042).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>ANT showed atrophy and decreased connectivity in TLE-HS, which correlated with epilepsy duration and seizure frequency. Understanding the dynamics of epileptogenic networks has the potential to shed light on surgery-resistant epilepsy and refine the selection process for ideal neurosurgical candidates, consequently enhancing post-surgical outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11724195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142964286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperreflective retinal foci are associated with retinal degeneration after optic neuritis in neuromyelitis optica spectrum disorders and multiple sclerosis","authors":"Philipp Klyscz,&nbsp;Ifat Vigiser,&nbsp;Gilberto Solorza Buenrostro,&nbsp;Seyedamirhosein Motamedi,&nbsp;Carla Johanna Leutloff,&nbsp;Patrick Schindler,&nbsp;Tanja Schmitz-Hübsch,&nbsp;Friedemann Paul,&nbsp;Hanna Gwendolyn Zimmermann,&nbsp;Frederike Cosima Oertel","doi":"10.1111/ene.70038","DOIUrl":"10.1111/ene.70038","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Hyperreflective retinal foci (HRF) visualized by optical coherence tomography (OCT) potentially represent clusters of microglia. We compared HRF frequencies and their association with retinal neurodegeneration between people with clinically isolated syndrome (pwCIS), multiple sclerosis (pwMS), aquaporin 4-IgG positive neuromyelitis optica spectrum disorder (pwNMOSD), and healthy controls (HC)—as well as between eyes with (ON⁺eyes) and without a history of optic neuritis (ON⁻eyes).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Cross-sectional data of pwCIS, pwMS, and pwNMOSD with previous ON and HC were acquired at Charité—Universitätsmedizin Berlin. HRF analysis was performed manually on the central macular OCT scan. Semi-manual OCT segmentation was performed to acquire the combined ganglion cell and inner plexiform layer (GCIPL), inner nuclear layer (INL), and peripapillary retinal nerve fiber layer (pRNFL) thickness. Group comparisons were performed by linear mixed models.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, 227 eyes from 88 patients (21 pwCIS, 32 pwMS, and 35 pwNMOSD) and 35 HCs were included. HRF in GCIPL and INL were more frequently detected in pwCIS, pwMS, and pwNMOSD than HCs (<i>p</i> &lt; 0.001 for all comparisons) with pwCIS exhibiting the greatest numbers. ON⁺eyes of pwMS had less HRF in GCIPL than ON⁻eyes (<i>p</i> = 0.036), but no difference was seen in pwCIS and pwNMOSD. HRF GCIPL were correlated to GCIPL thickness in ON⁺eyes in pwMS (<i>p</i> = 0.040) and pwNMOSD (<i>p</i> = 0.031).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>HRF occur in ON⁺eyes and ON⁻eyes across neuroinflammatory diseases. In pwMS and pwNMOSD, HRF frequency was positively associated with GCIPL thickness indicating that HRF formation might be dependent on retinal ganglion cells.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11718220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Opicapone as adjunct to levodopa in treated Parkinson's disease without motor complications: A randomized clinical trial","authors":"Joaquim J. Ferreira,&nbsp;Olivier Rascol,&nbsp;Fabrizio Stocchi,&nbsp;Angelo Antonini,&nbsp;Joana Moreira,&nbsp;Guillermo Castilla-Fernández,&nbsp;José-Francisco Rocha,&nbsp;Joerg Holenz,&nbsp;Werner Poewe,&nbsp;the Epsilon Study investigators","doi":"10.1111/ene.16420","DOIUrl":"10.1111/ene.16420","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Catechol-O-methyl transferase (COMT) inhibitors are routinely used to manage motor fluctuations in Parkinson's disease (PD). We assessed the effect of opicapone on motor symptom severity in levodopa-treated patients without motor complications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a randomized, double-blind, 24-week, placebo-controlled study of opicapone 50 mg as adjunct to levodopa (NCT04978597). Levodopa-treated patients without motor complications were randomized to 24 weeks of double-blind treatment with adjunct opicapone 50 mg or matching placebo. The primary efficacy endpoint was the mean change from baseline to week 24 in Movement Disorder Society-Unified Parkinson's Disease Rating Scale Part III (MDS-UPDRS-III) total score.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 355 patients were randomized (opicapone 50 mg <i>n</i> = 177, placebo <i>n</i> = 178) and 322 (91%) completed the double-blind period. The adjusted mean [95% CI] change from baseline to week 24 in MDS-UPDRS-III subscore was −6.5 [−7.9, −5.2] in the opicapone group versus −4.3 [−5.7, 3.0] in the placebo group resulting in a significant difference of −2.2 [−3.9, −0.5] favoring opicapone (<i>p</i> = 0.010). There was no difference in the incidence of patients who developed motor complications (5.5% with opicapone vs. 9.8% with placebo) and the incidence of adverse events considered related to study medication was similar between groups (opicapone 10.2% vs. placebo 13.5%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Treatment with once-daily adjunct opicapone was well tolerated, improved motor severity, and did not induce the development of motor complications. These results support the clinical usefulness of opicapone in the management of PD patients without motor complications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11954,"journal":{"name":"European Journal of Neurology","volume":"32 1","pages":""},"PeriodicalIF":4.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11718218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}