Annals of Clinical and Translational Neurology最新文献

{"title":"Twelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years.","authors":"Matthew R B Evans, Hamza A Salhab, Christopher D J Sinclair, Sachit Shah, Michael G Hanna, Tarek A Yousry, John S Thornton, Jasper M Morrow, Mary M Reilly","doi":"10.1002/acn3.52314","DOIUrl":"https://doi.org/10.1002/acn3.52314","url":null,"abstract":"<p><strong>Objective: </strong>We measured clinical and quantitative MRI outcome measures in CMT1A to assess long-term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker.</p><p><strong>Methods: </strong>Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4-year follow-up. Bilateral calf muscle MRI included T1-weighted sequences with Mercuri grading and three-point Dixon quantitative fat fraction assessment. Patients were grouped on baseline calf muscle fat fraction: normal <5%, intermediate 5%-70% and end stage >70%.</p><p><strong>Results: </strong>Controls showed no significant change on MRI. CMT1A patients' calf muscle fat percentage progressed across all follow-up visits: mean absolute change was +1.3 ± 1.2% (mean ± SD) at 12 months, +2.3 ± 2.2% at 27 months and 2.8 ± 2.9% at 49 months. Mercuri grades increased by 0.07 ± 0.11 per year. Responsiveness of individual muscle fat was less than for both calves combined. Patients with intermediate baseline calf muscle fat showed greater progression of 3.7 ± 2.3% at 27 months. There was strong correlation between rate of progression of calf muscle fat and CMT Examination Score (ρ = 0.71, P = 0.005). Calf muscle fat progression at 12 months correlated significantly with annualised CMT Examination Score progression at final visit (ρ = 0.65, P = 0.01).</p><p><strong>Interpretation: </strong>We demonstrated a consistent progression of calf muscle MRI fat over 4 years, significant longitudinal correlation between CMT Examination Score and calf muscle fat, and potential as a bridging biomarker by 1 year change in fat correlating with long-term clinical progression. Increasing study duration minimally increased responsiveness; however, selecting patients with intermediate fat fraction significantly increased responsiveness.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Liraglutide for idiopathic intracranial hypertension: a real-world propensity score-matched study.","authors":"Ahmed Y Azzam, Muhammed Amir Essibayi, Dhrumil Vaishnav, Mohammed A Azab, Mahmoud M Morsy, Osman Elamin, Adam Elswedy, Oday Atallah, Hana J Abukhadijah, Adam A Dmytriw, Amanda Baker, Deepak Khatri, Neil Haranhalli, David J Altschul","doi":"10.1002/acn3.52300","DOIUrl":"https://doi.org/10.1002/acn3.52300","url":null,"abstract":"<p><strong>Objective: </strong>Idiopathic intracranial hypertension (IIH) is a neurological disorder predominantly affecting young women with obesity, characterized by elevated intracranial pressure. While current treatments include weight loss counseling, medical therapies, and surgical interventions, their limitations necessitate exploring novel therapeutic approaches. We investigated the efficacy of liraglutide as an adjunctive therapy in IIH management.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study, analyzing adult patients with IIH. Through propensity score matching, we compared patients receiving liraglutide alongside standard therapy (n = 204) with those receiving standard therapy alone (n = 204). Primary outcomes included papilledema, headache manifestations, and visual disturbances, assessed at 3, 6, 12, and 24 months posttreatment initiation.</p><p><strong>Results: </strong>Our matched cohorts were predominantly female (95.1% vs. 97.1%) with comparable mean ages (37.6 vs. 37.3 years). Liraglutide treatment demonstrated significant reduction in papilledema risk at 3 months (RR 0.333, 95% CI 0.167-0.664, p = 0.001), with sustained benefits throughout 24 months (RR 0.524, 95% CI 0.325-0.845, p = 0.006). While improvements were observed in visual disturbances, headache symptoms, and refractory IIH cases, these did not reach statistical significance.</p><p><strong>Interpretation: </strong>Our findings suggest that liraglutide as an adjunctive therapy significantly improves papilledema outcomes in IIH patients, with the greatest effect observed at 3 months and sustained benefits over 2 years. This study provides promising evidence for liraglutide's role in IIH management, particularly in addressing papilledema.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143412577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case of a 96-year-old woman with tilt of the subjective vertical axis.","authors":"Markus A Hobert, Patrik Theodor Nerdal, Klaus Jahn, Johannes Hensler, Walter Maetzler","doi":"10.1002/acn3.70003","DOIUrl":"https://doi.org/10.1002/acn3.70003","url":null,"abstract":"","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebral autoregulation in patients with acute lacunar infarction: a reliable predictor of outcome.","authors":"Xiang-Kun Si, Song Xue, Xin Zhou, Ya-Nan Guo, Wen-Yu Du, Yang Qu, Xin Sun, Zhen-Ni Guo","doi":"10.1002/acn3.70004","DOIUrl":"https://doi.org/10.1002/acn3.70004","url":null,"abstract":"<p><strong>Objective: </strong>To further investigate the association between dynamic cerebral autoregulation (dCA) and the outcomes in patients with acute lacunar infarction.</p><p><strong>Methods: </strong>Patients were prospectively and consecutively enrolled at The First Hospital of Jilin University between 2016 and 2023. dCA was monitored at 1-3 and 7-10 days after the stroke. The outcomes were evaluated using a 3-month modified Rankin Scale score. Binary and ordered logistic regression were employed to analyze the relationship between dCA parameters and outcomes. dCA-based nomogram models were also developed to assess the predictive value of dCA for these patients.</p><p><strong>Results: </strong>Overall, 332 patients were included in analysis. dCA showed no significant differences between bilateral cerebral hemispheres, as well as two measurement time points (all P > 0.05). Regression analyses showed that dCA at 1-3 and 7-10 days were independently associated with the outcomes of patients with acute lacunar infarction after adjusting for confounders (all P < 0.05). Incorporating dCA parameters into conventional risk factors enhanced the risk-predictive ability of a 3-month unfavorable outcome, significantly improving the area under the receiver operating characteristic curve from 0.798(95% confidence interval [CI], 0.748-0.848) to 0.829(95% CI, 0.783-0.875) (P = 0.046).</p><p><strong>Interpretation: </strong>dCA remained consistent in bilateral cerebral hemispheres within acute and subacute periods among patients with lacunar infarction. It was independently associated with 3-month outcomes and could be regarded as a reliable predictor for discriminating outcome.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined Systemic Immunotherapy and Intrathecal Dexamethasone in Febrile Infection Related Epilepsy Syndrome.","authors":"Kristen S Fisher, Alexander Ankar, Jon Cokley, Eyal Muscal, James J Riviello, Yi-Chen Lai","doi":"10.1002/acn3.70011","DOIUrl":"https://doi.org/10.1002/acn3.70011","url":null,"abstract":"<p><p>Febrile infection related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus with immune dysregulation as a potential pathologic mechanism. Despite promising results from second-line immunomodulators, approximately 30% remain refractory to treatment. We describe two children with FIRES who were unable to wean from anesthetic infusions with immunomodulatory treatment and subsequently received concurrent intrathecal dexamethasone and anakinra/tocilizumab as escalation of therapy. Following the initiation of this combined regimen, anesthetic infusions were decreased while maintaining seizure freedom. These cases demonstrate proof of principle that a multi-modal approach may be beneficial and should be considered in the treatment of FIRES.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of concurrent neoplasms and a paraneoplastic association in MOGAD.","authors":"Young Nam Kwon, Nanthaya Tisavipat, Yong Guo, Stephanie B Syc-Mazurek, Ji Yeon Han, Jun-Soon Kim, Kyomin Choi, Seong-Il Oh, Seok-Jin Choi, Eunhee Sohn, Jeeyoung Oh, Seung Woo Kim, Ha Young Shin, Byung Chan Lim, Byoung Joon Kim, Kyung Seok Park, Jung-Joon Sung, Se Hoon Kim, Sung-Hye Park, Anastasia Zekeridou, Claudia F Lucchinetti, Sean J Pittock, John J Chen, Eoin P Flanagan, Sung-Min Kim","doi":"10.1002/acn3.52301","DOIUrl":"https://doi.org/10.1002/acn3.52301","url":null,"abstract":"<p><p>Cases of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) co-occurring with neoplasms have been reported. In this international, retrospective cohort study in South Korea and the USA, 16 of 445 (3.6%) patients with MOGAD had concurrent neoplasm within 2 years of MOGAD onset, resulting in a standardized incidence ratio for neoplasm of 3.10 (95% confidence interval [CI], 1.77-4.81; P < 0.001) when compared to the age- and country-adjusted incidence of neoplasm in the general population. However, none of the nine tumor tissues obtained demonstrated MOG immunostaining. The slightly increased frequency without immunohistopathological evidence suggest with true paraneoplastic MOGAD is extremely rare.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.","authors":"Aron Emmi, Giulia Bonato, Aleksandar Tushevski, Cinzia Bertolin, Francesco Cavallieri, Andrea Porzionato, Angelo Antonini, Leonardo Salviati, Miryam Carecchio","doi":"10.1002/acn3.52304","DOIUrl":"https://doi.org/10.1002/acn3.52304","url":null,"abstract":"<p><strong>Objective: </strong>Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting that calcium deposition may not be limited to the brain, but it is unknown whether this is a hallmark of all PFBC genetic and clinical subtypes. This work aims at assessing anatomical and subcellular localization of calcium-phosphate deposits in skin biopsies from PFBC patients to ascertain the accuracy of histological calcium staining in differentiating PFBC from healthy controls (HC) and Parkinson's Disease (PD).</p><p><strong>Methods: </strong>Histopathology and light microscopy of skin biopsy from 20 PFBC, 7 HC and 10 PD subjects (3 mm ø-5 mm deep punch biopsies, Hematoxylin-Eosin and vonKossa staining, immunoperoxidase CD31 staining); clinical, genetic and radiological assessment.</p><p><strong>Results: </strong>Unlike HC and PD subjects, the majority of PFBC patients (17/20) showed a consistent pattern of granular argyrophilic calcium-phosphate deposits in the basal lamina and the cytoplasm of CD31+ endothelial cells and pericytes of dermal capillaries, and the basement membrane of sweat glands. This pattern was unrelated to the underlying mutated gene or clinical status.</p><p><strong>Interpretation: </strong>Skin biopsy may be a novel PFBC diagnostic tool and a potential biomarker for future therapies, and a tool to investigate PFBC disease mechanisms. Different findings in some patients could be due to skin sampling variability and biological consequences of specific PFBC gene variants.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.","authors":"Riley M McCarty, Dimah Saade, Pinki Munot, Chamindra G Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J Skalsky, Jennifer R Friedman, Stephen R Braddock, Sarah B Neuhaus, Denise M Malicki, Matthew N Bainbridge, Shareef Nahas, David P Dimmock, Stephen F Kingsmore, Timothy E Lotze, A Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G Bönnemann","doi":"10.1002/acn3.52225","DOIUrl":"https://doi.org/10.1002/acn3.52225","url":null,"abstract":"<p><strong>Objective: </strong>While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII-related disorders have previously been documented.</p><p><strong>Methods: </strong>We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic pathogenic variants in COL12A1.</p><p><strong>Results: </strong>All patients presented with a consistent constellation of congenital onset clinical features: hypotonia, dysmorphic features, most notably gingival hypertrophy, prominent distal joint hyperlaxity, with co-occurring contractures of large joints, and variable muscle involvement, evident both clinically and on muscle imaging. Five patients presented with a severe congenital phenotype manifesting with profound weakness, significantly delayed or minimal attainment of motor milestones, respiratory insufficiency, and feeding difficulties. Three patients presented with mild-to-moderate muscle weakness and delayed milestones but were able to achieve independent ambulation. Patients were found to have biallelic loss-of-function COL12A1 variants, except for one family (p.I1393Ffs*11/p.A1110D). Consistent with the variable clinical spectrum, in vitro immunocytochemistry analysis in fibroblasts ranged from complete absence of Collagen XII expression in a patient with severe disease, to a mild reduction in a patient with milder disease.</p><p><strong>Interpretation: </strong>Here we characterize the clinical presentation, muscle imaging, and dermal fibroblast immunostaining findings associated with biallelic variants in COL12A1, further establishing COL12A1 as a recessive myopathic Ehlers-Danlos syndrome (mEDS) gene, and expanding the clinical spectrum to include a milder EDS phenotype.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143373664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ALS plasma biomarkers reveal neurofilament and pTau correlate with disease onset and progression.","authors":"Eleanor V Thomas, Changee Han, Woo Jae Kim, Seneshaw Asress, Yingjie Li, Jennifer A Taylor, Marla Gearing, Christina N Fournier, Zachary T McEachin, Nicholas T Seyfried, Jonathan D Glass","doi":"10.1002/acn3.70001","DOIUrl":"https://doi.org/10.1002/acn3.70001","url":null,"abstract":"<p><strong>Objective: </strong>We performed a pilot screen to assess the utility of the NULISA™ (Nucleic-acid-Linked Immuno-Sandwich Assay) platform in the identification of amyotrophic lateral sclerosis (ALS) biomarkers.</p><p><strong>Methods: </strong>Plasma from 86 individuals (48 ALS, 18 asymptomatic C9orf72 repeat expansion carriers (AsymC9), and 20 healthy controls) was analyzed via a multiplexed NULISA™ assay that includes 120 neurodegeneration-associated proteins. Statistical analysis of NULISA™ results was performed to identify proteins differentially expressed in plasma and their correlation with disease-associated parameters.</p><p><strong>Results: </strong>ALS plasma showed elevation of the established biomarkers, neurofilament light chain (NEFL) and neurofilament heavy chain (NEFH). Compared to controls and AsymC9, microtubule-associated protein tau (MAPT), phosphorylated tau 181 (pTau181), phosphorylated tau 217 (pTau217), phosphorylated tau 231 (pTau231), and phosphorylated TDP-43 (pTDP-43) were elevated in ALS. NEFL levels positively correlated with pTau181, pTau217, pTau231, and pTDP-43. MAPT and pTDP-43 were also correlated with pTau181, pTau217 and pTau231. Elevated pTau was negatively correlated with survival and ALSFRS-R. Spinal onset ALS was associated with higher pTau181, pTau217, and pTau231.</p><p><strong>Interpretation: </strong>We confirm previous reports showing elevated pTau181 in ALS plasma and show elevation of other phosphorylated tau forms, pTau217 and pTau231, typically observed in Alzheimer's disease. We provide preliminary data showing the detection and elevation of pTDP-43-409/410 in a subset of ALS samples compared to healthy controls. Neurofilament and tau levels are highly correlated suggesting their elevation may reflect a common pathology and disease state. Total and phosphorylated tau are correlated with multiple disease measures, such as ALS duration, ALSFRS-R, and site of onset.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.","authors":"Zhimei Liu, Kexin Pan, Mingzhao Wang, Yijun Jin, Wenxin Yang, Keer Chen, Chaolong Xu, Xin Duan, Ying Zou, Changhong Ren, Lifang Dai, Suzhou Zhao, Ya Wang, Lijun Shen, Fang Fang, Hezhi Fang","doi":"10.1002/acn3.52315","DOIUrl":"https://doi.org/10.1002/acn3.52315","url":null,"abstract":"<p><strong>Objective: </strong>Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants in Chinese children with mitochondrial disorders at clinical, molecular, and functional levels.</p><p><strong>Methods: </strong>Between February 2019 and September 2023, we analyzed pathogenic mtDNA variants in a cohort of over 600 Chinese children suspected of having mitochondrial disorders. Whole-exome sequencing (WES) and whole-mtDNA sequencing were performed on the cohort.</p><p><strong>Results: </strong>We identified 54 pathogenic or likely pathogenic mtDNA variants in 227 Chinese children with neurological mitochondrial disorders. Among the eight novel heteroplasmic variants detected in seven patients, in silico analyses suggested likely pathogenic features. Functional analyses using either primary fibroblasts or cybrid cells carrying different mutant loads of mtDNA variants showed impaired mitochondrial respiration, ATP generation, and mitochondrial membrane potential in five of the eight novel variants, including m.4275G>A, m.10407G>A, m.5828G>A, m.3457G>A, and m.13112T>C. The m.8427T>C variant was identified as a rare polymorphism because, despite being located at MT-ATP8, it does not affect both the assembly and activity of mitochondrial complex V in cells carrying homoplasmic m.8427T>C variation. Transcriptome profiling further confirmed the pathogenic contributions of these five variants by altering mitochondrial pathways.</p><p><strong>Conclusion: </strong>In summary, we revisited the mtDNA mutation spectrum in Chinese children with mitochondrial disorders, and identified five novel pathogenic mtDNA variants with functional verification that are related to neurological mitochondrial disorders in children.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}