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CNS disease

Tommaso Cassano, Alessandro Magini, Stefano Giovagnoli, Alice Polchi, Silvio Calcagnini, Lorenzo Pace, Michele Angelo Lavecchia, Caterina Scuderi, Maria Rosanna Bronzuoli, Loredana Ruggeri, Maria Pia Gentileschi, Adele Romano, Silvana Gaetani, Federico De Marco, Carla Emiliani, Diego Dolcetta
The discovery that mammalian target of rapamycin (mTOR) inhibition increases lifespan in mice and restores/delays many aging phenotypes has led to the identification of a novel potential therapeutic target for the treatment of Alzheimer's disease (AD). Among mTOR inhibitors, everolimus, which has been developed to improve the pharmacokinetic characteristics of rapamycin, has been extensively profiled in preclinical and clinical studies as anticancer and immunosuppressive agent, but no information is available about its potential effects on neurodegenerative disorders...
September 19, 2018: Experimental Neurology
Junko Ito, Tetsuro Shimada, Mari Tada, Hiroshi Shimizu, Masatoshi Wakabayashi, Akio Yokoseki, Osamu Onodera, Hitoshi Takahashi, Akiyoshi Kakita
We report the clinicopathologic features of 2 unrelated patients with sporadic amyotrophic lateral sclerosis (SALS) supported by tracheostomy and invasive ventilation (TIV) who were able to maintain communication ability for more than 30 years after disease onset. In both cases, the age at onset was younger than the mean, initially the progression of muscle weakness was consistent with that in the majority of SALS patients, and TIV became necessary several years after disease onset. Thereafter, however, their neurologic deterioration slowed and the patients were able to operate computers by facial movements for several decades...
August 21, 2018: Journal of Neuropathology and Experimental Neurology
Zhouchun Shang, Dongsheng Chen, Quanlei Wang, Shengpeng Wang, Qiuting Deng, Liang Wu, Chuanyu Liu, Xiangning Ding, Shiyou Wang, Jixing Zhong, Doudou Zhang, Xiaodong Cai, Shida Zhu, Huanming Yang, Longqi Liu, J Lynn Fink, Fang Chen, Xiaoqing Liu, Zhengliang Gao, Xun Xu
Background: Investigating cell fate decision and subpopulation specification in the context of the neural lineage is fundamental to understanding neurogenesis and neurodegenerative diseases. The differentiation process of neural-tube-like rosettes in vitro is representative of neural tube structures, which are composed of radially organized, columnar epithelial cells and give rise to functional neural cells. However, the underlying regulatory network of cell fate commitment during early neural differentiation remains elusive...
September 18, 2018: GigaScience
Andrea Accogli, Marcello Scala, Annalisa Calcagno, Raffaele Castello, Annalaura Torella, Francesco Musacchia, Anna M E Allegri, Maria M Mancardi, Mohamad Maghnie, Mariasavina Severino, Vincenzo Nigro, Valeria Capra
THO/TREX (transcription/export) is a conserved eukaryotic complex that plays a crucial role in gene expression and prevents DNA damage during mitosis and meiosis. In mammals, TREX is essential during embryogenesis, determining stem cell fate specification by regulating posttranscriptional self-renewal and differentiation in several tissues. It is composed of a core called THO, consisting of THOC1, 2, 5, 6, 7, and additional proteins. Bi-allelic mutations in THOC6 have been associated to Beaulieu-Boycott-Innes syndrome (BBIS), a syndromic form of intellectual disability (ID)...
September 20, 2018: American Journal of Medical Genetics. Part A
J M Lieb, N Naumann, F J Ahlhelm
CLINICAL ISSUE: Autoimmune disorders of the central nervous system (CNS) are common but are also a heterogeneous group of diseases. The most common form is multiple sclerosis (MS), others are clinically isolated syndrome (CIS), acute demyelinating encephalomyelitis (ADEM) and neuromyelitis optica spectrum disorders (NMOSD). Paraneoplastic syndromes are rare and tumor-associated, they are not induced by direct invasion of tumor tissue but by tumor-associated autoantibodies mostly against specific CNS proteins, e...
September 20, 2018: Der Radiologe
Abdul Ahad E Sheikh, Abu Baker Sheikh, Shazib Sagheer, Usman Tariq, Marvi M Bukhari, Zainab Fatima, Rao M Afzal
Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease of the central nervous system (CNS) with no distinct etiology but implications include infections and commonly administered vaccinations. In this case report, we present the case of ADEM in a young female who was subsequently diagnosed with acute intermittent porphyria (AIP) that was the instigator of the initial CNS assault. Our case highlights the peculiar presentation of ADEM which can present as a diagnostic challenge and brings forth AIP as a new and previously unknown affiliate of this rare CNS disease...
July 17, 2018: Curēus
Yousra Laouarem, Elisabeth Traiffort
Since the discovery of its role as a morphogen directing ventral patterning of the spinal cord, the secreted protein Sonic Hedgehog (Shh) has been implicated in a wide array of events contributing to the development, maintenance and repair of the central nervous system (CNS). One of these events is the generation of oligodendrocytes, the glial cells of the CNS responsible for axon myelination. In embryo, the first oligodendroglial cells arise from the ventral ventricular zone in the developing brain and spinal cord where Shh induces the basic helix-loop-helix transcription factors Olig1 and Olig2 both necessary and sufficient for oligodendrocyte production...
2018: Frontiers in Cellular Neuroscience
Selma M Soyal, Greta Zara, Boris Ferger, Thomas K Felder, Markus Kwik, Charity Nofziger, Silvia Dossena, Christine Schwienbacher, Andrew A Hicks, Peter P Pramstaller, Markus Paulmichl, Serge Weis, Wolfgang Patsch
Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. PGC-1α, encoded by PPARGC1A, is a transcriptional co-activator that has been implicated in the pathogenesis of neurodegenerative disorders. We recently discovered multiple new PPARGC1A transcripts that initiate from a novel promoter located far upstream of the reference gene promoter, are CNS-specific and are more abundant than reference gene transcripts in whole brain. These CNS-specific transcripts encode two main full-length and several truncated isoforms via alternative splicing...
September 17, 2018: Neurobiology of Disease
Eric Jonasch, Ian E McCutcheon, Dan S Gombos, Kamran Ahrar, Nancy D Perrier, Diane Liu, Christine C Robichaux, Mercedes F Villarreal, Justin A Weldon, Ashley H Woodson, Patrick G Pilie, Gregory N Fuller, Steven G Waguespack, Surena F Matin
BACKGROUND: No approved systemic therapy exists for von Hippel-Lindau disease, an autosomal dominant disorder with pleiotropic organ manifestations that include clear cell renal cell carcinomas; retinal, cerebellar, and spinal haemangioblastomas; pheochromocytomas; pancreatic serous cystadenomas; and pancreatic neuroendocrine tumours. We aimed to assess the activity and safety of pazopanib in patients with von Hippel-Lindau disease. METHODS: In this non-randomised, single-centre, open-label, phase 2 trial, adult patients with clinical manifestations of von Hippel-Lindau disease were recruited from the University of Texas MD Anderson Cancer Center (Houston, TX, USA) and were treated with pazopanib (800 mg orally daily) for 24 weeks, with an option to continue treatment if desired by the patient and treating physician...
September 17, 2018: Lancet Oncology
Ke Wang, Xiaomei Sun, Yang Cao, Liang Dai, Feiyang Sun, Ping Yu, Liqun Dong
To identify the risk factors for developing renal involvement and severe kidney disease in Chinese childhood Henoch-Schönlein purpura (HSP) patients.This was a retrospective study of 2731 children with HSP diagnosed between 2012 and 2015. We analyzed their demographic data, clinical manifestations, and laboratory tests retrospectively. Multivariate logistic regression analysis was used to assess the risk factors.Renal involvement occurred in 844 HSP patients (35.60%), and severe kidney disease occurred in 104 HSP patients (4...
September 2018: Medicine (Baltimore)
Gregory S Berns, Mark Spivak, Sarah Nemanic, Nicole Northrup
Training dogs for awake-MRI began in 2012 for the study of canine cognition. Although originally envisioned as a research technique to understand the neural mechanisms of canine cognitive function, its potential as a new diagnostic clinical tool has become apparent. A high-quality structural scan of the brain can be acquired without sedation or anesthesia in as little as 30 s in a well-trained dog. This has opened the possibility of longitudinal imaging of CNS disease with MRI both as a means of monitoring treatment and potentially as a surveillance tool for inflammatory and neoplastic brain diseases in high-risk breeds...
2018: Frontiers in Veterinary Science
Manmeet Singh, Reas S Khan, Kimberly Dine, Jayasri Das Sarma, Kenneth S Shindler
Neurotropic strains of mouse hepatitis virus (MHV) induce acute inflammation and chronic demyelination in the spinal cord and optic nerves mediated by axonal spread following intracranial inoculation in mice, with pathologic features similar to the human demyelinating disease multiple sclerosis. Spinal cord demyelination is also induced following intranasal inoculation with neurotropic MHV strains, however much higher viral doses are required as compared to intracranial inoculation. Recently, it was shown that intranasal administration of low concentrations of proteins leads to significant, rapid accumulation of protein in the optic nerve and in the eye, with only low levels reaching spinal cord and other brain regions...
2018: Frontiers in Cellular and Infection Microbiology
Bo-Zong Shao, Qi Cao, Chong Liu
Central nervous system (CNS) is one of the largest killers of people's health all over the world. The overactivation of the immune and inflammatory responses is considered as an important factor, contributing to the pathogenesis and progression of CNS disorders. Among all kinds of immune and inflammatory reaction, the inflammasome, a complex of proteins, has been drawn increasingly attention to by researchers. The initiation and activation of the inflammasome is involved in the onset of various kinds of diseases...
2018: Frontiers in Molecular Neuroscience
Alastair I Grainger, Marianne C King, David A Nagel, H Rheinallt Parri, Michael D Coleman, Eric J Hill
The brain is the most complex organ in the body, controlling our highest functions, as well as regulating myriad processes which incorporate the entire physiological system. The effects of prospective therapeutic entities on the brain and central nervous system (CNS) may potentially cause significant injury, hence, CNS toxicity testing forms part of the "core battery" of safety pharmacology studies. Drug-induced seizure is a major reason for compound attrition during drug development. Currently, the rat ex vivo hippocampal slice assay is the standard option for seizure-liability studies, followed by primary rodent cultures...
2018: Frontiers in Neuroscience
Benjamin E Maimon, Maurizio Diaz, Emilie C M Revol, Alexis M Schneider, Ben Leaker, Claudia E Varela, Shriya Srinivasan, Matthew B Weber, Hugh M Herr
Optogenetic technologies have been the subject of great excitement within the scientific community for their ability to demystify complex neurophysiological pathways in the central (CNS) and peripheral nervous systems (PNS). The excitement surrounding optogenetics has also extended to the clinic with a trial for ChR2 in the treatment of retinitis pigmentosa currently underway and additional trials anticipated for the near future. In this work, we identify the cause of loss-of-expression in response to transdermal illumination of an optogenetically active peroneal nerve following an anterior compartment (AC) injection of AAV6-hSyn-ChR2(H134R) with and without a fluorescent reporter...
September 19, 2018: Scientific Reports
Shelli F Farhadian, Sameet S Mehta, Chrysoula Zografou, Kevin Robertson, Richard W Price, Jenna Pappalardo, Jennifer Chiarella, David A Hafler, Serena S Spudich
Central nervous system (CNS) immune activation is an important driver of neuronal injury during several neurodegenerative and neuroinflammatory diseases. During HIV infection, CNS immune activation is associated with high rates of neurocognitive impairment, even during sustained long-term suppressive antiretroviral therapy (ART). However, the cellular subsets that drive immune activation and neuronal damage in the CNS during HIV infection and other neurological conditions remain unknown, in part because CNS cells are difficult to access in living humans...
September 20, 2018: JCI Insight
Chinthalapally V Rao, Mudassir Farooqui, Adam S Asch, Hiroshi Y Yamada
From early-onset Alzheimer's disease (EOAD) studies, the amyloid-beta hypothesis emerged as the foremost theory of the pathological causes of AD. However, how amyloid-beta accumulation is triggered and progresses toward senile plaques in spontaneous late-onset Alzheimer's disease (LOAD) in humans remains unanswered. Various LOAD facilitators have been proposed, and LOAD is currently considered a complex disease with multiple causes. Mice do not normally develop LOAD. Possibly due to the multiple causes, proposed LOAD facilitators have not been able to replicate spontaneous LOAD in mice, representing a disease modeling issue...
September 20, 2018: Cell Cycle
Evanthia Galanis, Farhad Nassiri, Shannon Coy, Romina Nejad, Gelareh Zadeh, Sandro Santagata
Important advances in our understanding of the molecular biology of brain tumors have resulted in a rapid evolution in the taxonomy of central nervous system (CNS) tumors, which culminated in the revised 2016 World Health Organization classification of CNS tumors that incorporates an integrated molecular/histologic diagnostic approach. Our expanding understanding of brain tumor genomics and molecular evolution during the disease course has started to impact clinical management. Furthermore, incorporation of genomic information in ongoing and planned neuro-oncology clinical trials is expected to lead to improved outcomes and result in personalized treatment options for patients with CNS malignancies...
May 23, 2018: American Society of Clinical Oncology Educational Book
Q An, C-H Fan, S-M Xu
Multiple sclerosis (MS) is an inflammatory idiopathic autoimmune disease causing demyelination of central nervous system (CNS). The incidence of pediatric MS is relatively rare, affecting 0.2 to 0.64/100,000 subjects; cases with MS onset before age 10-12 years, account for less than 1% of all MS cases, while 2.7 to 10.5% of all MS cases worldwide are seen in children <18 years of age, with a strong female preponderance. The disease course of MS varies from a benign type with relatively low level of disability after a long duration (15 years) of the disease, to a malignant type of MS with severe disability or even death within few months following onset...
September 2018: European Review for Medical and Pharmacological Sciences
Scott Otallah, Brenda Banwell
PURPOSE OF REVIEW: Diagnostic criteria for pediatric-onset multiple sclerosis (POMS) and related demyelinating disorders have been updated, neuroimaging studies have revealed new insights, biological assays identify patients with specific antibodies that influence both diagnosis and treatment, clinical trials are informing on treatment efficacy and safety, and longitudinal studies of neurological, cognitive and quality of life outcomes are informing on the impact of these diseases. We provide updates to assist providers caring for these children...
September 18, 2018: Current Neurology and Neuroscience Reports
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