Neurological Sciences最新文献

Cerebrospinal-fluid Orexin-A levels in different neurocognitive disorders: a comparison study.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-08 DOI: 10.1007/s10072-025-08148-0

Susana Lozano-Tovar, Riccardo Cremascoli, Marzia Nuccetelli, Giuseppe Sancesario, Stefania Cattaldo, Elisa Prina, Federico Verde, Simone Cappelli, Sergio Bernardini, Nicola Biagio Mercuri, Claudio Liguori

{"title":"Cerebrospinal-fluid Orexin-A levels in different neurocognitive disorders: a comparison study.","authors":"Susana Lozano-Tovar, Riccardo Cremascoli, Marzia Nuccetelli, Giuseppe Sancesario, Stefania Cattaldo, Elisa Prina, Federico Verde, Simone Cappelli, Sergio Bernardini, Nicola Biagio Mercuri, Claudio Liguori","doi":"10.1007/s10072-025-08148-0","DOIUrl":"https://doi.org/10.1007/s10072-025-08148-0","url":null,"abstract":"In the present study, we investigated the differences in cerebrospinal fluid (CSF) orexin-A levels among patients with different neurocognitive disorders, such as mild or moderate to severe Alzheimer's disease (AD; mAD, msAD, respectively), behavioral variants of frontotemporal dementia (bv-FTD), non-fluent primary aphasia (NFPA), and idiopathic normal pressure hydrocephalus (iNPH). A total of 214 participants were evaluated (mAD, 45; msAD, 31; bv-FTD, 12; NFPA, 22; iNPH, 13; non-demented elderly controls, 91). The highest CSF orexin-A levels were found in iNPH patients (263.31 ± 56.89 pg/mL). Patients affected by NFPA (210.86 ± 61.99 pg/mL), iNPH, and msAD (173.04 ± 19.76 pg/mL) showed higher CSF orexin-A concentrations than controls (145.18 ± 27.01pg/mL) (p < 0.001). Bv-FTD (190.12 ± 100.84 pg/mL) and mAD (130.76 ± 21.70 pg/mL) patients showed no significant differences in CSF orexin-A levels compared with controls. mAD patients showed also lower CSF orexin-A concentrations than all other patient groups.In conclusion, orexin-A presents different CSF levels among neurocognitive disorders. The mechanisms underlying this difference vary and may include sleep-wake cycle impairment, behavioral disturbances, and CSF dynamics. The development of drugs that antagonize the orexin system could open a new frontier of research linking orexin neurotransmission to neurocognitive disorders.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811131","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

Critical issues in the use of edaravone for the treatment of amyotrophic lateral sclerosis.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-08 DOI: 10.1007/s10072-025-08154-2

Hung Youl Seok

引用次数: 0

"Frog face and strangulated medulla": neuroimaging phenotype in a novel mutation in GFAP gene causing adult onset Alexander disease.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-08 DOI: 10.1007/s10072-025-08161-3

Sameer Peer, Arvinder Wander, Ramandeep Singh, Vikas Lakhanpal

引用次数: 0

Impulse control and related behavioral disorders in Parkinson's disease. Risk factors, diagnosis, and management. Is there a possible role for non-invasive brain stimulation?

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08151-5

Stefano Terruzzi, Lina Urh, Daniele Piscitelli, Mario Rosanova, Cecilia Perin

{"title":"Impulse control and related behavioral disorders in Parkinson's disease. Risk factors, diagnosis, and management. Is there a possible role for non-invasive brain stimulation?","authors":"Stefano Terruzzi, Lina Urh, Daniele Piscitelli, Mario Rosanova, Cecilia Perin","doi":"10.1007/s10072-025-08151-5","DOIUrl":"https://doi.org/10.1007/s10072-025-08151-5","url":null,"abstract":"Parkinson's disease (PD) is a neurodegenerative disease characterized by motor and non-motor symptoms. Among the non-motor symptoms, Impulse Control Disorders (ICDs) and related behaviors (ICBs), severely affect patient's global health. Despite their psychosocial consequences, ICDs are underrecognized in PD because routine screening is still not common. The main risk factor for ICDs is the use of dopamine agonists (DAs). Therefore, the latest guidelines on ICDs management emphasize pharmacological adjustments. However, these approaches are not always feasible due to the recurrence or worsening of motor and/or non-motor symptoms. As a result, there is an urgent need to find alternative solutions for the management of PD-ICDs. Cognitive Behavioral Therapy (CBT) has shown promising results, improving not only patients' ICDs but also caregivers' well-being. Deep Brain Stimulation (DBS) seems instead effective for the motor symptoms of PD but is not indicated for ICDs. Finally, Non-Invasive Brain Stimulation (NIBS - namely, repetitive Transcranial Magnetic Stimulation and transcranial Direct Current Stimulation), has shown the potential to improve motor and cognitive symptoms in PD by targeting the supplementary motor area (SMA) and the dorsolateral prefrontal cortex. Preventative strategies considering demographic, clinical, genetic, and cognitive risk factors could help identify individuals at very high vs. low risk of developing ICDs. These strategies may assist clinicians in making informed drug choices in PD patients, prioritizing L-dopa for motor symptoms management and evaluating additional approaches such as NIBS to prevent ICDs. However high-quality studies remain lacking, and further controlled trials are necessary to validate the effectiveness of these approaches.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795793","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

Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center. 泰国神经肌肉中心肢腰肌营养不良症 R7 telethonin 相关患者的两种不同表型和一种新型突变。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08158-y

Tanitnun Paprad, Jakkrit Amornvit, Thippamas Pobsuk, Manasawan Santananukarn, Chamaiporn Taychargumpoo, Worawan Sirichana, Chupong Ittiwut, Rungnapa Ittiwut, Kanya Suphapeetiporn, Nath Pasutharnchat, Numphung Numkarunarunrote

{"title":"Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.","authors":"Tanitnun Paprad, Jakkrit Amornvit, Thippamas Pobsuk, Manasawan Santananukarn, Chamaiporn Taychargumpoo, Worawan Sirichana, Chupong Ittiwut, Rungnapa Ittiwut, Kanya Suphapeetiporn, Nath Pasutharnchat, Numphung Numkarunarunrote","doi":"10.1007/s10072-025-08158-y","DOIUrl":"https://doi.org/10.1007/s10072-025-08158-y","url":null,"abstract":"Limb-girdle muscular dystrophy R7 telethonin-related (LGMDR7) is a rare autosomal recessive disorder caused by TCAP gene mutations. This study described the phenotypic spectrum, genetic characteristics, and muscle magnetic resonance imaging (MRI) findings of patients with LGMDR7. Five patients from three unrelated families with TCAP mutations were retrospectively identified at the Neuromuscular Center at King Chulalongkorn Memorial Hospital. Demographic, clinical, laboratory, and muscle MRI data were collected and analyzed. We observed a mild phenotype associated with asymptomatic/paucisymptomatic hyperCKemia in one family and a classic limb-girdle muscular dystrophy phenotype in two unrelated patients. The novel deletion variant c.136_137del was identified in a compound heterozygous state with c.26_33dup in a family with a mild phenotype. Muscle MRI of four patients revealed consistent sparing of the sartorius muscle in all patients. This study expands the clinical and genetic spectrum of LGMDR7 by demonstrating an asymptomatic/paucisymptomatic hyperCKemia phenotype and identifying the novel c.136_137del variant. The muscle MRI findings highlight a characteristic pattern in which the sartorius muscle is consistently uninvolved. These findings contribute to a better understanding of the disease and assist in developing future diagnostic strategies for affected individuals, specifically by using clinical profiles in conjunction with the characteristics of muscle MRI.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803803","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

Enhancing postural control in stroke patients: advances in mechanisms and functional recovery analysis of core stability training. 加强中风患者的姿势控制：核心稳定性训练的机制和功能恢复分析进展。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08119-5

Tingyu Zhang, Jiejiao Zheng

引用次数: 0

"Hair-on-end" appearance in thickened cortex in a case of classic lissencephaly due to DCX gene mutation. 一例因 DCX 基因突变导致的典型无脑畸形病例，其增厚的大脑皮层中出现了 "末端毛发"。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08163-1

Sameer Peer, Arvinder Wander, Ankit Kumar Meena

引用次数: 0

Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-07 DOI: 10.1007/s10072-025-08124-8

Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Yi Wang, Xihua Li, Lifei Yu

{"title":"Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.","authors":"Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Yi Wang, Xihua Li, Lifei Yu","doi":"10.1007/s10072-025-08124-8","DOIUrl":"https://doi.org/10.1007/s10072-025-08124-8","url":null,"abstract":"Background: Collagen VI-related disorder (COL6-RD) is an inherited neuromuscular disease characterized by a broad spectrum of phenotypes.Patients and methods: Eight families with autosomal dominant COL6-RD were recruited. Clinical manifestations, laboratory findings, electrophysiological results, molecular analyses, and pathological outcomes of eight index patients and their affected family members were systematically collected and reviewed.Results: Pathogenic variants were identified in four families in the COL6A1 gene, one family in the COL6A2 gene, and three families in the COL6A3 gene. Among the index patients, three were classified as moderate progressive Ullrich congenital muscular dystrophy (UCMD), four exhibited mild UCMD or Bethlem myopathy, and one was diagnosed with Bethlem myopathy. The phenotypic presentation was relatively consistent within four families. However, intra-familial phenotypic variability was observed in four families, encompassing a wide range of onset ages, patterns and degrees of muscle weakness, rates of contracture progression, severity of skin changes, and age at loss of ambulation.Conclusion: Inter- and intra-familial phenotypic variability is prevalent in autosomal dominant COL6-RDs. When predicting the clinical course and severity for patients, it is crucial to integrate a comprehensive set of information, including mutation sites and types, family history, and early presenting features.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795795","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

Clinical and radiological activity after extended interval and standard interval dosing of ocrelizumab in multiple sclerosis: A systematic review and meta-analysis. 多发性硬化症患者延长间隔用药和标准间隔用药后的临床和放射学活性：系统综述和荟萃分析。

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-04 DOI: 10.1007/s10072-025-08098-7

Mahsa Ghajarzadeh, Mohsen Rastkar, Ellen M Mowry, Bardia Nourbakhsh

{"title":"Clinical and radiological activity after extended interval and standard interval dosing of ocrelizumab in multiple sclerosis: A systematic review and meta-analysis.","authors":"Mahsa Ghajarzadeh, Mohsen Rastkar, Ellen M Mowry, Bardia Nourbakhsh","doi":"10.1007/s10072-025-08098-7","DOIUrl":"https://doi.org/10.1007/s10072-025-08098-7","url":null,"abstract":"Background: Ocrelizumab is an anti-CD20 monoclonal antibody that is highly effective in reducing MS clinical and radiological activity. The standard dosing regimen consists of infusing 600 mg of ocrelizumab every six months. However, concerns about increasing risks of infection and lowered vaccine response, particularly during the COVID-19 pandemic, prompted clinicians to extend the dosing interval between ocrelizumab infusions for some patients. Several observational studies have compared the effects of extended-interval dosing (EID) and standardinterval dosing (SID) of ocrelizumab on MS relapse rate and MRI activity. METHOD: We performed a systematic review and meta-analysis of the current literature to summarize studies comparing ocrelizumab EID and SID on MS disease activity in patients with MS. Two independent reviewers searched PubMed, Scopus, EMBASE, Web of Science, and Google Scholar on the 1st of June 2024.Results: Our systematic search revealed 348 records, and after deleting duplicates, 29 records remained. Twenty-eight full texts were evaluated; ultimately, 16 studies remained for systematic review. In this meta-analysis, extended interval dosing (EID) was defined variably across studies, with some considering even a one-month delay as EID. The pooled odds ratios (ORs) for clinical and MRI activity, comparing ocrelizumab EID to SID groups, were estimated as 1.04 (95%CI: 0.67-1.6, I2=30%, P=0.21) and 1.31(95%CI: 0.90-1.92) (I2=15%, P=0.32), respectively. CONCLUSION: This systematic review and meta-analysis suggest that ocrelizumab EID is not associated with greater odds of clinical and radiological disease activity in patients with MS.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780737","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

Short neck as a cause of stroke? Bilateral vertebral artery dissection in a patient with Klippel-Feil Syndrome.

IF 2.7 4区医学

Neurological Sciences Pub Date : 2025-04-04 DOI: 10.1007/s10072-025-08157-z

Laura Del Pino Tejado, Marta Vales Montero, Ana María Iglesias Mohedano, Andrés García Pastor, Fernando Díaz Otero, Pilar Vázquez Alén, Yolanda Fernández Bullido, Antonio Gil Núñez

{"title":"Short neck as a cause of stroke? Bilateral vertebral artery dissection in a patient with Klippel-Feil Syndrome.","authors":"Laura Del Pino Tejado, Marta Vales Montero, Ana María Iglesias Mohedano, Andrés García Pastor, Fernando Díaz Otero, Pilar Vázquez Alén, Yolanda Fernández Bullido, Antonio Gil Núñez","doi":"10.1007/s10072-025-08157-z","DOIUrl":"https://doi.org/10.1007/s10072-025-08157-z","url":null,"abstract":"Vertebral dissections are a recognized cause of stroke in young people. Its association with Klippel-Feil Syndrome (KFS) is unusual. We describe the case of a male with simultaneous bilateral vertebral artery dissection with SKF and review the related literature. A 30-year-old male, with no relevant medical history, was transferred to the hospital with code stroke due to dizziness, dysarthria and clumsiness of the right limbs of sudden onset. Eight days prior, he had experienced intense right-sided neck pain after making a sudden neck turn while playing football, which persisted over the days. Phenotypically, he had a noticeable short neck. A cranial CT scan showed an acute right cerebellar infarction and an AngioCT scan showed bilateral vertebral artery dissection. An MRI revealed vertebral artery wall signal hyperintensity, compatible with intramural hematoma. The findings were confirmed by arteriography. Fusion of the cervical vertebrae C2-C3 compatible with SKF was observed at the same level where both dissections were observed. The patient was discharged asymptomatic with antiplatelet treatment. He received single antiplatelet therapy with 100 mg aspirin, remaining stable without recurrences. A follow-up MR angiogram showed resolution of the lesions after 3 months. SKF is a rare malformation consisting of a triad of fusion of cervical vertebrae, short neck and low hairline implantation. Its association with stroke is scarce and there are few descriptions of cases, none with bilateral dissection.","PeriodicalId":19191,"journal":{"name":"Neurological Sciences","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780743","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