Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings [0.03%]
严重TUBB4A相关低髓鞘病变伴基底节和小脑萎缩：新型神经病理发现
Kristina M Joyal,Jean Michaud,Marjo S van der Knaap et al.
Kristina M Joyal et al.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental delay, progressive rigidity and spasticity, with hypomyel...
Subchronic Pathobiological Response Following Chronic Repetitive Mild Traumatic Brain Injury in an Aged Preclinical Model of Amyloid Pathogenesis [0.03%]
老年淀粉样病理学前期模型重复性慢性轻度创伤性脑损伤后的亚急性病理生物学反应
Joseph O Ojo,Paige Leary,Caryln Lungmus et al.
Joseph O Ojo et al.
Repetitive mild traumatic brain injury (r-mTBI) is a risk factor for Alzheimer disease (AD). The precise nature of how r-mTBI leads to, or precipitates, AD pathogenesis remains unclear. In this study, we explore subchronic effects of chroni...
Lactate Deficit in an Alzheimer Disease Mouse Model: The Relationship With Neuronal Damage [0.03%]
阿尔茨海默病鼠模型中的乳酸缺乏及其与神经元损伤的关系
Mao Zhang,Xiaofang Cheng,Ruozhi Dang et al.
Mao Zhang et al.
Cerebral energy metabolism in Alzheimer disease (AD) has recently been given increasing attention. This study focuses on the alterations of cerebral lactate metabolism in the double-transgenic amyloid precursor protein/presenilin 1 (APP/PS1...
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies [0.03%]
题肌营养不良症中提汀相关肌病的共同基线组织病理学改变：肌小节支架丧失
Rainiero Ávila-Polo,Edoardo Malfatti,Xavière Lornage et al.
Rainiero Ávila-Polo et al.
Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, we performed a ...
Effect of Fluorinert on the Histological Properties of Formalin-Fixed Human Brain Tissue [0.03%]
氟化物对甲醛固定的人脑组织的组织学性质的影响
Juan Eugenio Iglesias,Shauna Crampsie,Catherine Strand et al.
Juan Eugenio Iglesias et al.
Fluorinert (perfluorocarbon) represents an inexpensive option for minimizing susceptibility artifacts in ex vivo brain MRI scanning, and provides an alternative to Fomblin. However, its impact on fixed tissue and histological analysis has n...
A Distinct Metabolite Profile Correlates with Neurodegenerative Conditions and the Severity of Congenital Hydrocephalus [0.03%]
一种独特的代谢产物谱与神经退行性病变及先天性脑积水的严重程度相关
María García-Bonilla,María L García-Martín,M Carmen Muñoz-Hernández et al.
María García-Bonilla et al.
In congenital hydrocephalus, cerebrospinal fluid accumulation is associated with increased intracranial pressure (ICP), ischemia/hypoxia, metabolic impairment, neuronal damage, and astrocytic reaction. The aim of this study was to identify ...
Elisabetta Indelicato,Wolfgang Nachbauer,Andreas Eigentler et al.
Elisabetta Indelicato et al.
Friedreich's Ataxia (FRDA) is caused by a homozygous intronic GAA expansion in the FXN gene. FRDA affects primarily the peripheral nervous system (PNS) with cumulative evidence from postmortem studies and in vitro models suggesting a develo...
BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature [0.03%]
BRAT1基因突变的首例中国籍患者报道及文献复习
Randy H Van Ommeren,Andrew F Gao,Susan I Blaser et al.
Randy H Van Ommeren et al.
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) (OMIM#614498) is caused by homozygous or compound heterozygous mutation in the BRAT1 gene (OMIM#614506) on chromosome 7p22. We report a newborn female infant born to non-consa...
Chronic Traumatic Encephalopathy Within an Amyotrophic Lateral Sclerosis Brain Bank Cohort [0.03%]
慢性创伤性脑病在肌萎缩侧索硬化脑库队列中的研究
Gabriel S Walt,Hannah M Burris,Christopher B Brady et al.
Gabriel S Walt et al.
Chronic traumatic encephalopathy (CTE) is a progressive neurodegenerative disorder linked to repetitive head impacts and has been associated with amyotrophic lateral sclerosis (ALS), a fatal, degenerative neuromuscular disorder. The Departm...
Steroid-Responsive Relapsing-Remitting Neutrophilic Encephalitis: A Case Report [0.03%]
类固醇治疗反应型复发缓解性中性粒细胞脑炎一例报告
Matthias N Ungerer,Ricarda Diem,Arne Wrede et al.
Matthias N Ungerer et al.
We report a case of a rapidly progressing, relapsing-remitting, steroid-responsive granulocytic encephalitis without any signs of peripheral nervous system or other organ involvement. It apparently had an immune-mediated etiology that could...