Journal of experimental neurology最新文献

Glial Cell and Perineuronal Net Interactions in the Dorsal Striatum of Aged Mice. 老年小鼠背纹状体神经胶质细胞与神经元周围网络的相互作用。

Journal of experimental neurology Pub Date : 2026-01-01

Zachary A Colon, Alejandro Gamboa, Scott Litwiler, Kathleen A Maguire-Zeiss

引用次数: 0

Extracellular Vesicles in Angelman Syndrome: Expanding UBE3A Role beyond a Cell Autonomous Mechanism. 天使综合征中的细胞外囊泡：UBE3A在细胞自主机制之外的扩展作用。

Journal of experimental neurology Pub Date : 2026-01-01

Eduardo Penna, Michel Baudry, Xiaoning Bi

{"title":"Extracellular Vesicles in Angelman Syndrome: Expanding UBE3A Role beyond a Cell Autonomous Mechanism.","authors":"Eduardo Penna, Michel Baudry, Xiaoning Bi","doi":"","DOIUrl":"","url":null,"abstract":"Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of maternal UBE3A, an E3 ubiquitin ligase essential for neuronal development, synaptic plasticity, and cognitive function. AS has traditionally been viewed as a cell-autonomous disorder in which intracellular UBE3A deficiency drives neuronal dysfunction. However, recent evidence suggests that impaired extracellular vesicle (EV)-mediated intercellular communication also contributes to disease pathophysiology. EVs are key intercellular mediators of neuronal and glial signaling, as they transfer proteins, lipids, and nucleic acids, which regulate synaptic homeostasis, circuit maturation, and brain plasticity. Here, we discuss emerging evidence linking UBE3A deficiency to alterations in EV biogenesis, cargo composition, secretion, and uptake. We propose that disruption of ubiquitin-dependent endosomal trafficking, together with endolysosomal dysfunction involving LAMTOR1 and the lysosomal Ca2+ channel TRPML1, contribute to defective EV properties in AS. Moreover, the recent identification of UBE3A within neuronal EVs raises the possibility that loss of EV-mediated UBE3A transfer represents an additional non-cell-autonomous mechanism underlying synaptic dysfunction in AS. These findings support a revised model in which impaired EV signaling amplifies the consequences of intracellular UBE3A deficiency. Finally, we discuss the therapeutic potential of EVs. The ability of wild-type neuron-derived EVs to rescue synaptic and cognitive deficits in an AS mouse model highlights the use of EVs as a promising therapeutic avenue for Angelman syndrome and other neurodevelopmental disorders.","PeriodicalId":73744,"journal":{"name":"Journal of experimental neurology","volume":"7 3","pages":"125-134"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13600349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149042584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Cost of Safety: Balancing Biosafety and Histologic Integrity in Prion Research. 安全性的代价：在朊病毒研究中平衡生物安全性和组织学完整性。

Journal of experimental neurology Pub Date : 2026-01-01

Alyssa Seerley, Andrea Grindeland Panter

引用次数: 0

N-Acetylcysteine Ameliorates Loss of the Electroretinogram b-wave in a Bardet-Biedl Syndrome Type 10 Mouse Model. n -乙酰半胱氨酸改善Bardet-Biedl综合征10型小鼠视网膜电图b波丢失

Journal of experimental neurology Pub Date : 2025-01-01 DOI: 10.33696/Neurol.6.108

Tyler J Rankin, Sara Mayer, Joseph G Laird, Brianna Lobeck, Emily Kalmanek, Arlene V Drack

{"title":"N-Acetylcysteine Ameliorates Loss of the Electroretinogram b-wave in a Bardet-Biedl Syndrome Type 10 Mouse Model.","authors":"Tyler J Rankin, Sara Mayer, Joseph G Laird, Brianna Lobeck, Emily Kalmanek, Arlene V Drack","doi":"10.33696/Neurol.6.108","DOIUrl":"10.33696/Neurol.6.108","url":null,"abstract":"Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal degeneration leading to blindness. This study investigates the therapeutic efficacy of N-Acetylcysteine (NAC), an oxygen free radical scavenger, in ameliorating retinal degeneration associated with BBS using a murine model of BBS10. BBS is caused by mutations in BBS genes, the protein products of which are involved in ciliary function; mutant or absent BBS10 protein disrupts the assembly of the BBSome protein complex, disturbing ciliary trafficking and leading to photoreceptor cell dysfunction and death. Photoreceptor function can be assessed using the electroretinogram (ERG), and anatomy can be assessed using optical coherence tomography (OCT) and histology to demonstrate progressive degeneration over time. This study utilizes Bbs10 -/- mice to assess the effect of NAC supplementation on retinal degeneration. Results reveal that NAC supplementation ameliorates the progressive degeneration of the retinal outer nuclear layer (ONL) on OCT and mitigates the loss-of-b-wave ERG phenotype observed in Bbs10 -/- mice. The ERG b-wave is generated by retinal bipolar cells after synapsing with photoreceptors which have been hyperpolarized by light exposure. Reducing the loss-of-b-wave phenotype may indicate improved synaptic function. Synaptic staining demonstrates a correlation between the absence of an electropositive b-wave and mislocalized presynaptic terminals, highlighting the significance of synaptic integrity for retinal function. These findings suggest NAC as a promising therapeutic intervention for managing BBS10-related retinal degeneration.","PeriodicalId":73744,"journal":{"name":"Journal of experimental neurology","volume":"6 1","pages":"49-63"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12459551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145152222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular Cascades That Build and Connect Auditory Neurons from Hair Cells to the Auditory Cortex. 从毛细胞到听觉皮层建立和连接听觉神经元的分子级联。

Journal of experimental neurology Pub Date : 2025-01-01

Ebenezer N Yamoah, Gabriela Pavlinkova, Bernd Fritzsch

{"title":"Molecular Cascades That Build and Connect Auditory Neurons from Hair Cells to the Auditory Cortex.","authors":"Ebenezer N Yamoah, Gabriela Pavlinkova, Bernd Fritzsch","doi":"","DOIUrl":"","url":null,"abstract":"Understanding the development of the auditory system is crucial for uncovering the molecular origins of hearing and its related disorders. During this development, spiral ganglion neurons extend peripheral fibers to cochlear hair cells and central projections to the cochlear nuclei, setting up a tonotopic map that connects the ear to the brainstem, enabling frequency-specific sound perception. This sensory information is then integrated bilaterally through a relay involving the superior olivary complex, lateral lemniscus, inferior colliculus, medial geniculate body, and the auditory cortex. While anatomical connectivity has been well-documented, recent advancements have revealed gene regulatory networks that coordinate the specification, differentiation, and connectivity of auditory neurons. In this review, we examine the molecular cascades guiding auditory system development, emphasizing transcriptional hierarchies and lineage determinants. Insights into these mechanisms enhance our understanding of auditory circuit formation and provide a critical foundation for therapeutic strategies aimed at addressing congenital and acquired hearing loss.","PeriodicalId":73744,"journal":{"name":"Journal of experimental neurology","volume":"6 3","pages":"111-120"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12356050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144877155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Mechanical Thrombectomy for All LVO – Is It Feasible? – Recent Evidence to Expand the Current Stroke Guidelines 机械血栓切除术治疗所有 LVO - 可行吗？- 扩展现行卒中指南的最新证据

Journal of experimental neurology Pub Date : 2024-01-30 DOI: 10.33696/neurol.5.084

Jindong Xu, Cortney de la Torre, Devon Shafer, Margely Carrion-Carrero, Pramod Sethi

引用次数: 0

Could Neonatal Electroclinical Syndromes Orchestrate Diagnosis and Treatment? 新生儿临床电综合征能否协调诊断和治疗？

Journal of experimental neurology Pub Date : 2024-01-30 DOI: 10.33696/neurol.5.083

Rene Andrade Machado

{"title":"Could Neonatal Electroclinical Syndromes Orchestrate Diagnosis and Treatment?","authors":"Rene Andrade Machado","doi":"10.33696/neurol.5.083","DOIUrl":"https://doi.org/10.33696/neurol.5.083","url":null,"abstract":"Introduction: Neonatal seizures are associated with neurodevelopmental impairments. Implementing long-term video-EEG monitoring in the neonatal intensive care unit became the gold standard for seizure diagnosis. During the neonatal period, seizures can be associated with an acute brain insult called acute symptomatic seizures (ASS) or being part of neonatal epilepsy that may have a structural, metabolic, or genetic cause. This distinction impacts patient workup and management. Objectives: To facilitate a guide to differentiate ASS from neonatal epilepsy, and to correlate different electroclinical seizure patterns with a specific etiology. Methods: A narrative review was performed. MEDLINE, Embase, and PubMed were used to gather data for this narrative review. The following keywords were applied to focus on original research and case reports: epileptic encephalopathy, developmental Epileptic encephalopathy and neonatal seizures, neonatal genetic encephalopathies, Otahara syndrome, neonatal channelopathies, and neonatal seizure classification. Conclusions: Strict electroclinical semiology is the backbone for diagnosing neonatal seizures. The EEG and ictal semiology help with the diagnosis and the treatment. The neonatal seizure classification should be expanded to include the EEG pattern. Lumping them in a better classificatory system will prevent unnecessary and hazardous medication.","PeriodicalId":73744,"journal":{"name":"Journal of experimental neurology","volume":"66 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140481193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Definition and Characteristics of Multiple Sclerosis with Predominant Cognitive Presentation 以认知为主要表现的多发性硬化症的定义和特征

Journal of experimental neurology Pub Date : 2024-01-30 DOI: 10.33696/neurol.5.086

Amanda Fiori Cavassani, Álix Djone Berté, Andressa Ribeiro Pinto, Marcus Vinicius Magno Gonçalves, Gabriel de Deus Vieira

引用次数: 0

Diagnosis and Treatment of Normal Pressure Hydrocephalus and Repeated Subdural Hematoma and Effusion after Ventriculoperitoneal Shunt in the Elderly: A Case Report 老年人脑室腹腔分流术后正常压力脑积水和反复硬膜下血肿及渗出的诊断与治疗：病例报告

Journal of experimental neurology Pub Date : 2024-01-30 DOI: 10.33696/neurol.5.085

Qing-Yong Wang, Qingjun Li

{"title":"Diagnosis and Treatment of Normal Pressure Hydrocephalus and Repeated Subdural Hematoma and Effusion after Ventriculoperitoneal Shunt in the Elderly: A Case Report","authors":"Qing-Yong Wang, Qingjun Li","doi":"10.33696/neurol.5.085","DOIUrl":"https://doi.org/10.33696/neurol.5.085","url":null,"abstract":"Idiopathic normal pressure hydrocephalus (iNPH) is a special type of hydrocephalus that is characterized by cognitive decline, gait disturbance, and urinary incontinence. It can lead to dementia and bedridden within 1-3 years. Without surgical treatment in time, the prognosis was bleak. We report an iNPH case misdiagnosed with Alzheimer’s disease, with a disease course of 3 years. The main manifestations of the patient were walking impairment, memory loss, urinary incontinence, repeated falls, and hallucinations, bedridden in the late stage, with a modified Rankin Scale (mRS):5. After undergoing the ventriculoperitoneal shunt, due to the low shunt pressure, the patient developed severe headache, repeated and severe subdural hemorrhage and effusion. After adjusting the shunt pressure in time, the patient recovered well with an mRS: 3, which was inconsistent with the previous belief that the operation was ineffective for patients with a disease course of more than 3 years. This case suggests that elderly patients with iNPH can still benefit from timely surgery even if the disease course of more than 3 years. Special attention should be paid after the operation, and the CSF shunt pressure should avoid setting too low, which may induce serious complications such as subdural hemorrhage or effusion.","PeriodicalId":73744,"journal":{"name":"Journal of experimental neurology","volume":"82 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140484582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A Case Report of Rheumatoid Meningitis – A Rare Condition Presenting with Neurological Deficits 类风湿性脑膜炎病例报告--一种表现为神经功能缺损的罕见疾病

Journal of experimental neurology Pub Date : 2024-01-10 DOI: 10.33696/neurol.4.081

Arun Swaminathan, Arvind Ramesh

引用次数: 0