Neurological Sciences最新文献

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Correction to: Italian recommendations for the diagnosis and treatment of myasthenia gravis. 更正:意大利重症肌无力诊断和治疗建议。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-09 DOI: 10.1007/s10072-026-09058-5
Laura Fionda, Paolo Emilio Alboini, Carlo Antozzi, Domenico Marco Bonifati, Valentina Damato, Francesco Habetswallner, Maurizio Inghilleri, Raffaele Iorio, Rocco Liguori, Michelangelo Maestri Tassoni, Lorenzo Maggi, Renato Mantegazza, Roberto Massa, Elena Pegoraro, Carmelo Rodolico, Mariangela Pino, Giovanni Antonini, Amelia Evoli
{"title":"Correction to: Italian recommendations for the diagnosis and treatment of myasthenia gravis.","authors":"Laura Fionda, Paolo Emilio Alboini, Carlo Antozzi, Domenico Marco Bonifati, Valentina Damato, Francesco Habetswallner, Maurizio Inghilleri, Raffaele Iorio, Rocco Liguori, Michelangelo Maestri Tassoni, Lorenzo Maggi, Renato Mantegazza, Roberto Massa, Elena Pegoraro, Carmelo Rodolico, Mariangela Pino, Giovanni Antonini, Amelia Evoli","doi":"10.1007/s10072-026-09058-5","DOIUrl":"https://doi.org/10.1007/s10072-026-09058-5","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Central nervous system Burkitt lymphoma: fornix-to-ventricle dissemination. 中枢神经系统伯基特淋巴瘤:穹窿向脑室播散。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-09 DOI: 10.1007/s10072-026-09049-6
Shugang Cao, Tieyu Wu, Xiaokun Qi, Yanghua Tian, Jing Du
{"title":"Central nervous system Burkitt lymphoma: fornix-to-ventricle dissemination.","authors":"Shugang Cao, Tieyu Wu, Xiaokun Qi, Yanghua Tian, Jing Du","doi":"10.1007/s10072-026-09049-6","DOIUrl":"https://doi.org/10.1007/s10072-026-09049-6","url":null,"abstract":"<p><p>Central nervous system Burkitt lymphoma (BL) is exceptionally rare in adolescents without systemic disease. We report a 16-year-old female presenting with progressive headaches and isolated fornix lesions on MRI. Following an initial presumptive diagnosis of viral encephalitis, empiric administration of low-dose dexamethasone and antivirals induced transient symptomatic improvement. A follow-up MRI 50 days later revealed a fulminant \"spark-to-wildfire\" imaging progression, characterized by multifocal ventricular dissemination and obstructive hydrocephalus. Histopathology and fluorescence in situ hybridization (FISH) confirmed the BL diagnosis. This case highlights the extreme biological aggressiveness of central nervous system BL and the diagnostic challenges of atypical fornix involvement, underscoring the necessity of serial neuroimaging assessment and prompt pathological biopsy for accurate diagnosis.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurosyphilis presenting with cortical ribboning and periodic EEG discharges: a diagnostic challenge. 神经梅毒表现为皮质带状和周期性脑电图放电:一个诊断挑战。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-08 DOI: 10.1007/s10072-026-09083-4
Xiaohong Li, Zhenze Lu, Wenshuang Zeng, Haibing Xiao, Ling Li
{"title":"Neurosyphilis presenting with cortical ribboning and periodic EEG discharges: a diagnostic challenge.","authors":"Xiaohong Li, Zhenze Lu, Wenshuang Zeng, Haibing Xiao, Ling Li","doi":"10.1007/s10072-026-09083-4","DOIUrl":"https://doi.org/10.1007/s10072-026-09083-4","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
From continuous to adaptive deep brain stimulation: Personalized modulation improves motor complications and sleep in Parkinson's Disease. 从持续到适应性脑深部刺激:个性化调节改善帕金森病的运动并发症和睡眠。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-08 DOI: 10.1007/s10072-026-09077-2
Carolina Soares, Gabriel Borges, Manuel J Ferreira-Pinto
{"title":"From continuous to adaptive deep brain stimulation: Personalized modulation improves motor complications and sleep in Parkinson's Disease.","authors":"Carolina Soares, Gabriel Borges, Manuel J Ferreira-Pinto","doi":"10.1007/s10072-026-09077-2","DOIUrl":"https://doi.org/10.1007/s10072-026-09077-2","url":null,"abstract":"<p><strong>Background: </strong>Adaptive deep brain stimulation (aDBS) dynamically modulates stimulation parameters in real time based on ongoing neural activity, potentially overcoming key limitations of conventional continuous DBS (cDBS) in Parkinson's disease (PD).</p><p><strong>Objectives: </strong>To assess the impact of switching from cDBS to aDBS on motor and non-motor symptoms in PD patients with suboptimal cDBS outcomes.</p><p><strong>Methods: </strong>Four PD patients transitioned from optimized cDBS to aDBS using threshold algorithms tailored to beta-band activity. Motor and non-motor outcomes were assessed before surgery, under cDBS, and 9 months after aDBS using MDS-UPDRS parts I-IV, PDSS-2, and PDQ-39.</p><p><strong>Results: </strong>aDBS reduced motor complications (ΔUPDRS-IV: -40.4%), while maintaining motor benefit. Patients showed improved sleep (ΔPDSS-2: -52.9%), improvement in non-motor and motor aspects of daily-living (ΔUPDRS-I: -43.6%; ΔUPDRS-II:- 31.3%), and quality-of-life (ΔPDQ-39: -24.7%). No adverse effects occurred and all patients preferred aDBS over cDBS.</p><p><strong>Conclusions: </strong>aDBS was feasible, well tolerated, and improved motor fluctuations and sleep quality compared with cDBS, supporting its role in personalized neuromodulation for PD.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thrombolysis in spinal cord infarction: Case report and systematic review. 脊髓梗死溶栓治疗:病例报告及系统回顾。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-08 DOI: 10.1007/s10072-026-09085-2
Andrea Di Pietro, Emanuele Spina, Carlo Maurea, Antonio De Mase, Giovanna Servillo, Stefano Barbato, Flavio Giordano, Mario Muto, Stefania Miniello, Paolo Candelaresi, Vincenzo Andreone
{"title":"Thrombolysis in spinal cord infarction: Case report and systematic review.","authors":"Andrea Di Pietro, Emanuele Spina, Carlo Maurea, Antonio De Mase, Giovanna Servillo, Stefano Barbato, Flavio Giordano, Mario Muto, Stefania Miniello, Paolo Candelaresi, Vincenzo Andreone","doi":"10.1007/s10072-026-09085-2","DOIUrl":"https://doi.org/10.1007/s10072-026-09085-2","url":null,"abstract":"<p><strong>Introduction: </strong>Spinal cord infarction (SCI) is a rare but severe cause of acute myelopathy, and evidence supporting reperfusion therapies remains limited.</p><p><strong>Methods: </strong>We report a 73-year-old man with spontaneous cervical SCI treated with intravenous alteplase and perform a systematic review (database search from inception to 13 November 2025) of case reports/series describing intravenous (IV) or intra-arterial (IA) thrombolysis for SCI, extracting data about clinical presentation, diagnostic and therapeutic work-up and functional outcomes.</p><p><strong>Results: </strong>Our patient improved after thrombolysis and achieved functional independence at 3 months (modified Rankin Scale [mRS] 2). The review identified 21 studies (19 case reports, 2 case series) totaling 25 patients; including our case, 26 patients were analyzed. Mean age was 57.4 years (range 14-83), and anterior spinal artery (ASA) syndrome was the most common presentation. Most patients received IV thrombolysis; 4 underwent IA therapy (alone or combined). Considering the last available assessment, 14/25 patients (56.0%) had a favorable outcome (mRS 0-2), 8/25 (32.0%) had mRS 3, and 3/25 (12.0%) had mRS 4-5. No symptomatic treatment-related hemorrhagic complications were reported. DISCUSSION AND CONCLUSION: Published experience suggests that thrombolysis in carefully selected patients with suspected SCI may represent a reasonably safe therapeutic option, but evidence is limited and subject to major bias. Prospective registries and multicenter studies are needed to clarify safety, efficacy, and selection criteria.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147841042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Myelin oligodendrocyte glycoprotein antibody-associated disease after transforaminal lumbar interbody fusion surgery: a case report. 经椎间孔腰椎椎间融合术后髓鞘少突胶质细胞糖蛋白抗体相关疾病1例报告
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-08 DOI: 10.1007/s10072-026-09080-7
Yicheng Qian, Yingying Shi, Yixuan Kang, Yucheng Fu, Wei Yu, Kan Xu
{"title":"Myelin oligodendrocyte glycoprotein antibody-associated disease after transforaminal lumbar interbody fusion surgery: a case report.","authors":"Yicheng Qian, Yingying Shi, Yixuan Kang, Yucheng Fu, Wei Yu, Kan Xu","doi":"10.1007/s10072-026-09080-7","DOIUrl":"https://doi.org/10.1007/s10072-026-09080-7","url":null,"abstract":"<p><strong>Background: </strong>Postoperative myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) represents a rare clinical entity that poses significant diagnostic challenges. Despite its clinical relevance, limited attention has been directed toward postoperative MOGAD, compounded by its heterogeneous symptom presentation and potential mimicry of other postoperative complications. This case study provides critical insights into the diagnostic and therapeutic management of postoperative MOGAD, emphasizing the necessity for early recognition and appropriate treatment. We present a case of a 27-year-old female who developed refractory fever following transforaminal lumbar interbody fusion (TLIF) surgery. Initial treatment focused on suspected surgical site inflammation, with empirical broad-spectrum antibiotics administered. However, progressive neurological manifestations including bilateral vision impairment, headache, and positive serum MOG-IgG prompted revision of the diagnosis to MOGAD. The patient subsequently received targeted therapy and recovered well.</p><p><strong>Results: </strong>The patient received methylprednisolone, mannitol, and intravenous immunoglobulin therapy. This regimen achieved complete neurological recovery, with resolution of visual deficits and normalization of inflammatory markers.</p><p><strong>Conclusion: </strong>This case highlights the importance of identifying postoperative MOGAD as a potential complication and underscores the need for early and accurate diagnosis. Increased awareness and prompt intervention could prevent unnecessary delays in treatment and improve patient prognosis.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pooling Alzheimer's disease: when methodological rigor risks obscuring biological complexity. 汇集阿尔茨海默病:当方法的严谨性有掩盖生物复杂性的风险时。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-07 DOI: 10.1007/s10072-026-09082-5
Marco Spallazzi, Alessandro Zilioli, Sabina Capellari
{"title":"Pooling Alzheimer's disease: when methodological rigor risks obscuring biological complexity.","authors":"Marco Spallazzi, Alessandro Zilioli, Sabina Capellari","doi":"10.1007/s10072-026-09082-5","DOIUrl":"https://doi.org/10.1007/s10072-026-09082-5","url":null,"abstract":"","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optical coherence tomography is a useful tool for monitoring treatment response in migraine: a prospective longitudinal study. 光学相干断层扫描是监测偏头痛治疗反应的有用工具:一项前瞻性纵向研究。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-07 DOI: 10.1007/s10072-026-09086-1
Chinmayi Chandrakant Seemikeri, Pooja Mailankody, Rajani Battu, D V Seshagiri, Mariamma Philip, Girish Baburao Kulkarni
{"title":"Optical coherence tomography is a useful tool for monitoring treatment response in migraine: a prospective longitudinal study.","authors":"Chinmayi Chandrakant Seemikeri, Pooja Mailankody, Rajani Battu, D V Seshagiri, Mariamma Philip, Girish Baburao Kulkarni","doi":"10.1007/s10072-026-09086-1","DOIUrl":"https://doi.org/10.1007/s10072-026-09086-1","url":null,"abstract":"<p><strong>Background and objectives: </strong>Migraine is a primary headache disorder wherein vascular changes are well known. We aimed to evaluate the retinal and choroidal parameters in migraine patients longitudinally, with a particular focus on treatment-related changes.</p><p><strong>Methods: </strong>We conducted a prospective longitudinal study of 45 patients with migraine (ICHD-3 criteria) who were indicated for prophylactic treatment. The patients were evaluated clinically using the visual analogue scale (VAS), monthly migraine days (MMD), migraine disability assessment score (MIDAS), and Optical Coherence Tomography (OCT) at baseline and after 3 months of follow-up. The peripapillary retinal nerve fibre layer (PPRNFL), peripapillary choroid thickness (PPCHT), subfoveal choroid thickness (SFC), ganglion cell layer (GCL), and central macular thickness (CMT) were the parameters assessed using OCT. 45 age- and gender-matched healthy controls were recruited for comparison of baseline parameters.</p><p><strong>Results: </strong>The majority of patients (38/45) were females, and the mean age was 37.3 ± 10.0 years. The PPRNFL, PPCHT, SFC LE, GCL, and CMT were thinner in patients than in controls. All parameters, except the GCL and CMT, increased significantly during follow-up after 3 months of prophylactic treatment.</p><p><strong>Conclusion: </strong>This longitudinal study demonstrated partial structural recovery, suggesting that some retinal and choroidal changes in migraine may be reversible. Our findings support the role of these OCT parameters as surrogate markers of disease burden and treatment response in migraine. Large-scale, multicentre prospective studies with longer follow-up are warranted to evaluate the prognostic utility of OCT parameters in migraine.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Dysphagia Outcome and Severity Scale (DOSS) and non-instrumental swallowing measures in amyotrophic lateral sclerosis. 肌萎缩性侧索硬化症患者的吞咽困难结局和严重程度量表(DOSS)和非器械吞咽测量。
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-07 DOI: 10.1007/s10072-026-09076-3
Sergio Motta, Giuseppe Quaremba, Lucia Aruta, Salvatore Allosso, Gianmaria Senerchia, Valentina Virginia Iuzzolino, Raffaele Dubbioso
{"title":"The Dysphagia Outcome and Severity Scale (DOSS) and non-instrumental swallowing measures in amyotrophic lateral sclerosis.","authors":"Sergio Motta, Giuseppe Quaremba, Lucia Aruta, Salvatore Allosso, Gianmaria Senerchia, Valentina Virginia Iuzzolino, Raffaele Dubbioso","doi":"10.1007/s10072-026-09076-3","DOIUrl":"10.1007/s10072-026-09076-3","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate reliability of the Dysphagia Outcome and Severity Scale (DOSS) in Amyotrophic Lateral Sclerosis (ALS) patients, and to assess diagnostic accuracy of selected non-instrumental measures in defining swallowing safety in this population.</p><p><strong>Methods: </strong>One hundred and thirteen consecutive ALS patients underwent comprehensive dysphagia evaluation with fiberoptic endoscopic evaluation of swallowing (FEES) and were classified according to DOSS. Safe and unsafe swallowing were defined by DOSS levels 7-6 and 5-1, respectively. Patient-reported measures included ALS Functional Rating Scale-Revised swallow item (I-3) and Eating Assessment Tool-10 (EAT-10). Non-instrumental clinical measures were hyolaryngeal excursion, voluntary cough (VC), voice quality and reflexive cough/throat clearing (VRC), and maximum phonation time (MPT). Inter- and intra-rater reliability were assessed using weighted Cohen's kappa and Fleiss' kappa coefficients. Non-instrumental measures diagnostic performance was evaluated using receiver operating characteristic (ROC) curve analysis.</p><p><strong>Results: </strong>Twenty-six of 113 patients (23%) exhibited an unsafe swallowing. Inter- and intra-rater agreement for DOSS classification was excellent across raters. EAT-10 and a composite clinical index derived from VC, VRC, and MPT showed the highest diagnostic accuracy with area under the curve values of 0.790 and 0.832, respectively. Other non-instrumental measures demonstrated lower discriminative performance.</p><p><strong>Conclusions: </strong>The DOSS showed an excellent reliability when applied to FEES in patients with ALS, supporting its use as a functional classification tool with direct nutritional and management implications. Non-instrumental measures should be interpreted with caution and confined to a triage role rather than diagnostic decision-making, particularly in light of the rapid progression of dysphagia in ALS.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13149588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitochondrial complex III deficiency nuclear type 2: a case report and analysis of clinical onset age-related phenotypic features. 线粒体复合体III缺乏症核2型:1例报告及临床发病年龄相关表型特征分析
IF 2.4 4区 医学
Neurological Sciences Pub Date : 2026-05-07 DOI: 10.1007/s10072-026-09073-6
Shih-Chun Lan, Yung-Yee Chang, Shu-Fang Chen, Ying-Fa Chen, Min-Yu Lan
{"title":"Mitochondrial complex III deficiency nuclear type 2: a case report and analysis of clinical onset age-related phenotypic features.","authors":"Shih-Chun Lan, Yung-Yee Chang, Shu-Fang Chen, Ying-Fa Chen, Min-Yu Lan","doi":"10.1007/s10072-026-09073-6","DOIUrl":"https://doi.org/10.1007/s10072-026-09073-6","url":null,"abstract":"<p><strong>Case presentation: </strong>Mitochondrial complex III deficiency nuclear type 2 (MC3DN2) is a rare inherited neurometabolic disease. A 34-year-old male had neuropsychiatric episodes, progressive cerebellar degeneration, myopathy, polyneuropathy, and brain stem and basal ganglion lesions since childhood. Muscle biopsy revealed mitochondrial abnormalities. Two novel TTC19 pathogenic variants were detected.</p><p><strong>Literature review: </strong>To analyze phenotypic characteristics of MC3DN2 related to clinical onset age, neurological presentation and brain MRI regarding infantile and childhood-onset (ICO) and adolescent and adult-onset (AAO) disease in a cohort composed of our patient and the cases reported in the literature were compared. It revealed that, clinically, cerebellar ataxia was common in both groups, nystagmus was more frequently noted in AAO patients, and psychiatric disturbances were more common in ICO patients. Regarding MRI findings, basal ganglion lesions were more prevalent in ICO patients, and inferior olive lesions were more frequent in AAO patients.</p><p><strong>Discussion: </strong>These conspicuous phenotypic features of MC3DN2 may suggest diagnosis of this distinctive disease. The differences in clinical features and brain lesions associated with clinical onset age could provide crucial insights into the phenotypic landscape of MC3DN2.</p>","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":"47 6","pages":""},"PeriodicalIF":2.4,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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