Annals of Neurology最新文献

{"title":"ANA Podcasts and Webinars: Minimally Invasive Epilepsy Surgery","authors":"Ioannis Karakis MD, PhD, MSc, Adeline L. Goss MD, Jessica W. Templer MD, Michelle C. Johansen MD, PhD, Jon T. Willie MD, PhD, FAANS","doi":"10.1002/ana.27183","DOIUrl":"https://doi.org/10.1002/ana.27183","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 3","pages":"407-408"},"PeriodicalIF":8.1,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143423540","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}

{"title":"Genetic Ablation of Sarm1 Mitigates Disease Acceleration after Traumatic Brain Injury in the SOD1G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis","authors":"Elif O. Dogan MD,&nbsp;Sean R. Simonini,&nbsp;James Bouley BA,&nbsp;Alexandra Weiss BS,&nbsp;Robert H. Brown Jr DPhil, MD,&nbsp;Nils Henninger MD, PhD, Dr Med","doi":"10.1002/ana.27174","DOIUrl":"10.1002/ana.27174","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Approximately 20% of familial cases of amyotrophic lateral sclerosis (ALS) are caused by mutations in the gene encoding superoxide dismutase 1 (SOD1). Epidemiological data have identified traumatic brain injury (TBI) as an exogenous risk factor for ALS; however, the mechanisms by which TBI may worsen SOD1 ALS remain largely undefined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We sought to determine whether repetitive TBI (rTBI) accelerates disease onset and progression in the transgenic SOD1^G93A mouse ALS model, and whether loss of the primary regulator of axonal degeneration sterile alpha and TIR motif containing 1 (<i>Sarm1</i>) mitigates the histological and behavioral pathophysiology. We subjected wild-type (n = 23), <i>Sarm1</i> knockout (KO; n = 17), SOD1^G93A (n = 19), and SOD1^G93AxSarm1^KO (n = 26) mice of both sexes to rTBI or sham surgery at age 64 days (62–68 days). Body weight and ALS-deficit score were serially assessed up to 17 weeks after surgery and histopathology assessed in layer V of the primary motor cortex at the study end point.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In sham injured SOD1^G93A mice, genetic ablation of <i>Sarm1</i> did not attenuate axonal loss, improve neurological deficits, or survival. The rTBI accelerated onset of G93A-SOD1 ALS, as indicated by accentuated body weight loss, earlier onset of hindlimb tremor, and shortened survival. The rTBI also triggered TDP-43 mislocalization, enhanced axonal and neuronal loss, microgliosis, and astrocytosis. Loss of <i>Sarm1</i> significantly diminished the impact of rTBI on disease progression and rescued rTBI-associated neuropathology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>SARM1-mediated axonal death pathway promotes pathogenesis after TBI in SOD1^G93A mice suggesting that anti-SARM1 therapeutics are a viable approach to preserve neurological function in injury-accelerated G93A-SOD1 ALS. ANN NEUROL 2025;97:963–975</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 5","pages":"963-975"},"PeriodicalIF":8.1,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142941771","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}

{"title":"Early-Life Adversity Predicts Markers of Aging-Related Neuroinflammation, Neurodegeneration, and Cognitive Impairment in Women","authors":"Lara Fleck MSc,&nbsp;Claudia Buss PhD,&nbsp;Martin Bauer MSc,&nbsp;Maike Stein MD,&nbsp;Ralf Mekle PhD,&nbsp;Lena Kock MSc,&nbsp;Heiko Klawitter MSc,&nbsp;Malvika Godara PhD,&nbsp;Judith Ramler MSc,&nbsp;Sonja Entringer PhD,&nbsp;Matthias Endres MD,&nbsp;Christine Heim PhD","doi":"10.1002/ana.27161","DOIUrl":"10.1002/ana.27161","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Despite the overwhelming evidence for profound and longstanding effects of early-life stress (ELS) on inflammation, brain structure, and molecular aging, its impact on human brain aging and risk for neurodegenerative disease is poorly understood. We examined the impact of ELS severity in interaction with age on blood-based markers of neuroinflammation and neurodegeneration, brain volumes, and cognitive function in middle-aged women.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We recruited 179 women (aged 30–60 years) with and without ELS exposure before the onset of puberty. Using Simoa technology, we assessed blood-based markers of neuroinflammation and neurodegeneration, including serum concentrations of glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL). We further obtained T1-weighted and T2-weighted magnetic resonance images to assess brain volumes and we assessed cognitive performance sensitive to early impairments associated with the development of dementia, using the Cambridge Neuropsychological Automated Test Battery. We used generalized additive models to examine nonlinear interaction effects of ELS severity and age on these outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Analyses revealed significant nonlinear interaction effects of ELS severity and age on NfL and GFAP serum concentrations, total and subcortical gray matter volume loss, increased third ventricular volume, and cognitive impairment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>These findings suggest that ELS profoundly exacerbates peripheral, neurostructural, and cognitive markers of brain aging. Our results are critical for the development of novel early prevention strategies that target the impact of developmental stress on the brain to mitigate aging-related neurological diseases. ANN NEUROL 2025;97:642–656</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"642-656"},"PeriodicalIF":8.1,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27161","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142941768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Automated Detection of Isolated REM Sleep Behavior Disorder Using Computer Vision","authors":"Mohamed Abdelfattah MS,&nbsp;Li Zhou PhD,&nbsp;Oliver Sum-Ping MD,&nbsp;Anahid Hekmat MD,&nbsp;Joanna Galati MD,&nbsp;Niraj Gupta BS,&nbsp;George Adaimi PhD,&nbsp;Salonee Marwaha BS,&nbsp;Ankit Parekh PhD,&nbsp;Emmanuel Mignot MD,&nbsp;Alexandre Alahi PhD,&nbsp;Emmanuel During MD","doi":"10.1002/ana.27170","DOIUrl":"10.1002/ana.27170","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Isolated rapid eye movement (REM) sleep behavior disorder (iRBD) is, in most cases, an early stage of Parkinson's disease or related disorders. Diagnosis requires an overnight video-polysomnogram (vPSG), however, even for sleep experts, interpreting vPSG data is challenging. Using a 3D camera, automated analysis of movements has yielded high accuracy. We aimed to replicate and extend prior work using a conventional 2D camera.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The dataset included 172 vPSG recordings from a clinical sleep center, 81 patients with iRBD and 91 non-RBD healthy controls (63 with a range of other sleep disorders and 28 healthy sleepers). An optical flow computer vision algorithm automatically detected movements during rapid eye movement (REM) sleep, from which features of rate, ratio, magnitude and velocity of movements, and ratio of immobility were extracted.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Patients with iRBD exhibited an increased number of shorter movements and immobility periods. Accuracies for detecting iRBD ranged from 84.9% (with 2 features) to 87.2% (with 5 features). Combining all 5 features but only analyzing short (0.1–2 second duration) movements achieved the highest accuracy at 91.9%. Of the 11 patients with iRBD without noticeable movements during vPSG, 7 were correctly identified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This work improves prior art by using a 2D camera routinely used in sleep laboratories and improving performance by adding only 3 features. This approach could be implemented in clinical sleep laboratories to facilitate and improve the diagnosis of iRBD. Coupled with automated detection of REM sleep, it should also be tested in the home environment using conventional infrared cameras to detect and/or monitor RBD. ANN NEUROL 2025;97:860–872</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 5","pages":"860-872"},"PeriodicalIF":8.1,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27170","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142941766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inflammation in Cerebral Amyloid Angiopathy-Related Transient Focal Neurological Episodes","authors":"Amina Sellimi MD,&nbsp;Larysa Panteleienko MD, PhD,&nbsp;Dermot Mallon MD, PhD,&nbsp;Simon Fandler-Höfler MD, PhD,&nbsp;Rupert Oliver MD, PhD,&nbsp;Victoria Harvey Sc, PGDip,&nbsp;Michael S. Zandi PhD,&nbsp;Gargi Banerjee MD, PhD,&nbsp;David J. Werring MD, PhD","doi":"10.1002/ana.27164","DOIUrl":"10.1002/ana.27164","url":null,"abstract":"<p>Transient focal neurological episodes (TFNE), often associated with convexity subarachnoid hemorrhage (cSAH), are common in cerebral amyloid angiopathy (CAA), but their pathophysiology remains incompletely understood. In six patients with unremitting TFNE, using high-resolution post-contrast magnetic resonance imaging and vessel wall imaging (VWI), we found various combinations of transient leptomeningeal, parenchymal and vessel wall enhancement; in 5 of 6 the enhancement included regions corresponding anatomically to symptoms. Three patients had resolution of TFNE and enhancement (2 with corticosteroid treatment, 1 without). Our observations suggest that inflammation might contribute to the pathophysiology of CAA-related TFNE and cSAH, with potential wider relevance for the associated high risks of recurrent ICH in CAA more generally. ANN NEUROL 2025;97:475–482</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 3","pages":"475-482"},"PeriodicalIF":8.1,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27164","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142941773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Loss of TDP-43 Splicing Repression Occurs in Myonuclei of Inclusion Body Myositis Patients","authors":"Chiseko Ikenaga MD, PhD,&nbsp;Andrew B. Wilson PhD,&nbsp;Katherine E. Irwin MS,&nbsp;Aswathy Peethambaran Mallika PhD,&nbsp;Collin Kilgore MS,&nbsp;Irika R. Sinha MS,&nbsp;Elizabeth H. Michelle MD,&nbsp;Jonathan P. Ling PhD,&nbsp;Philip C. Wong PhD,&nbsp;Thomas E. Lloyd MD, PhD","doi":"10.1002/ana.27167","DOIUrl":"10.1002/ana.27167","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Inclusion body myositis (IBM) is an idiopathic inflammatory myopathy with muscle pathology characterized by endomysial inflammation, rimmed vacuoles, and cytoplasmic mislocalization of transactive response DNA-binding protein 43 (TDP-43). We aimed to determine whether loss of TDP-43 splicing repression led to the production of “cryptic peptides” that could be detected in muscle biopsies as a useful biomarker for IBM.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used an antisera against a neoepitope encoded by a TDP-43-dependent cryptic exon within hepatoma-derived growth factor-like protein 2 (<i>HDGFL2</i>) for immunohistochemical analysis on muscle biopsy samples of 122 patients with IBM, 181 disease controls, and 16 healthy controls without abnormal muscle pathology. In situ hybridization was also utilized to detect the localization of cryptic <i>HDGFL2</i> transcripts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found cryptic <i>HDGFL2</i> peptides localized within myonuclei from muscle biopsies in 79 of 122 patients with IBM (65%), and this staining correlated with TDP-43 depletion. In contrast, cryptic <i>HDGFL2</i> immunoreactivity was absent in 197 muscle biopsies from a variety of disease controls, except for 2 patients with vacuolar myopathies. Notably, we show that cryptic <i>HDGFL2</i> transcripts are accompanied by the detection of cryptic <i>HDGFL2</i> in muscle fibers of IBM without rimmed vacuoles and TDP-43 aggregates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Together, our findings establish that loss of TDP-43 splicing repression occurs in myonuclei of IBM skeletal muscle and suggest that detection of cryptic peptides in muscle biopsies may be a useful biomarker. We suggest that a therapeutic strategy designed to restore TDP-43 function should be considered to attenuate the degeneration of skeletal muscle in this devastating disease. ANN NEUROL 2025;97:629–641</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 4","pages":"629-641"},"PeriodicalIF":8.1,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142930092","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}

{"title":"Lecanemab-Associated Amyloid-β Protofibril in Cerebrospinal Fluid Correlates with Biomarkers of Neurodegeneration in Alzheimer's Disease","authors":"Moeko Noguchi-Shinohara MD, PhD,&nbsp;Kazuyoshi Shuta MS,&nbsp;Hidetomo Murakami MD, PhD,&nbsp;Yukiko Mori MD, PhD,&nbsp;Junji Komatsu MD, PhD,&nbsp;Chizuru Kobayashi MS,&nbsp;Steven Hersch MD, PhD,&nbsp;Kanta Horie PhD,&nbsp;Kenjiro Ono MD, PhD","doi":"10.1002/ana.27175","DOIUrl":"https://doi.org/10.1002/ana.27175","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The Clarity AD phase III trial showed that lecanemab reduced amyloid markers in early Alzheimer's disease (AD) and resulted in less decline on measures of cognition and function than placebo. Herein, we aimed to characterize amyloid-β (Aβ) protofibril (PF) captured by lecanemab in human cerebrospinal fluid (CSF) from living participants with different stages in AD, which enable an enhanced understanding of the dynamic changes of lecanemab-associated Aβ-PF (Lec-PF) in vivo.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We newly developed a unique and highly sensitive immunoassay method using lecanemab that selectively captures Lec-PF. The CSF level of Lec-PF, Aβ42, Aβ40, p-tau181, p-tau 217, total tau, and neurogranin were measured in Japanese participants (n = 163). The participants in this study consisted of 48 cognitively unimpaired Aβ-negative (CU–), 8 cognitively impaired diagnosed as suspected non-Alzheimer's disease pathophysiology, 9 cognitively unimpaired Aβ-positive (CU+), 34 Aβ-positive with mild cognitive impairment (MCI+), and 64 Aβ-positive with AD dementia (AD+).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The CSF Lec-PF levels significantly increased in the groups of MCI+ and AD+ compared with CU– group. Notably, CSF Lec-PF showed modest correlation with plaque-associated biomarkers in Aβ-positive participants and stronger correlation with neurodegeneration biomarkers, such as CSF total tau and neurogranin, suggesting that CSF Lec-PF levels proximally reflect neurodegeneration as well as the amount of senile amyloid plaques.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>This is the first report describing Aβ-PF species captured by lecanemab in human CSF and supporting that Lec-PF is correlated with neurodegeneration in AD and may explain the mechanism of the clinical effect of lecanemab. ANN NEUROL 2025;97:993–1006</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 5","pages":"993-1006"},"PeriodicalIF":8.1,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27175","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143852891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotype Spectrum of TRPM3-Associated Disorders","authors":"Laura Jolitz,&nbsp;Ingo Helbig MD,&nbsp;Mark P. Fitzgerald MD PhD,&nbsp;Sarah McKeown Ruggiero MS, CGC,&nbsp;Stacey Cohen MS, CGC,&nbsp;Chloe Angelini,&nbsp;Elena Vallespin,&nbsp;Vincent Michaud MD,&nbsp;Anna Gerasimenko,&nbsp;Benjamin Cogne,&nbsp;Bertrand Isidor,&nbsp;Boris Keren,&nbsp;David Dyment DPhil, MD,&nbsp;Delphine Heron MD,&nbsp;Helena Gásdal Karstensen PhD,&nbsp;Inge Cuppen MD, PhD,&nbsp;John Christodoulou MB, PS, PhD,&nbsp;Meredith Wilson,&nbsp;Nicole J. Lake MSc, PhD,&nbsp;Saskia Biskup MD, PhD,&nbsp;Steffen Syrbe MD,&nbsp;Takayasu Mori MD, PhD,&nbsp;Lena-Luise Becker MD,&nbsp;Angela M. Kaindl MD, PhD","doi":"10.1002/ana.27141","DOIUrl":"10.1002/ana.27141","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (<i>TRPM3</i>) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed retrospectively the phenotypes and genotypes of 43 individuals with <i>TRPM3</i> variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22). We included all patients with a pathogenic <i>TRPM3</i> variant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The median age at the time of the study was 10 years, with a preponderance of girls (60%) versus boys (40%). Frequent findings were developmental delay and/or intellectual disability (93%), global or axial hypotonia (77%), ocular involvement (70%), musculoskeletal anomalies (65%), and dysmorphic features (58%). Epilepsy was diagnosed in 31 patients (72%), classified in all as developmental and epileptic encephalopathy with or without spike wave activation in sleep (DEE/DEE-SWAS). Patients with the variant p.Val1002Met (n = 24) significantly more often had developmental delay and epilepsy. The most effective anti-seizure medication was primidone. All treated patients showed an improvement in seizure frequency, motor and speech development, and/or learning capability with this drug.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Developmental delay/intellectual disability and epilepsy are dominant phenotypic features in patients with <i>TRPM3</i> variants. Given that epilepsy can negatively impact development, screening for awake and sleep electroencephalogram abnormalities and other manifestations are essential to offer early intervention. The TRPM3 channel blocker primidone has shown promising effects and should be considered in every child with a <i>TRPM3</i> gain-of-function variant. ANN NEUROL 2025;97:561–570</p>\u0000 </section>\u0000 </div>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 3","pages":"561-570"},"PeriodicalIF":8.1,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.27141","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142918714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perfusion and Electrophysiological Changes in MELAS","authors":"Baris Alten MD, PhD,&nbsp;Catherine J. Chu MD, MSc,&nbsp;Natalia S. Rost MD, MPH,&nbsp;Melissa A. Walker MD, PhD","doi":"10.1002/ana.27176","DOIUrl":"10.1002/ana.27176","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 5","pages":"956-958"},"PeriodicalIF":8.1,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142906459","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}

{"title":"Annals of Neurology: Volume 97, Number 1, January 2025","authors":"","doi":"10.1002/ana.26973","DOIUrl":"https://doi.org/10.1002/ana.26973","url":null,"abstract":"","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"97 1","pages":"C1"},"PeriodicalIF":8.1,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.26973","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143120454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}