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https://www.readbyqxmd.com/read/28544463/axonal-charcot-marie-tooth-neuropathy-concurrent-with-distal-and-proximal-weakness-by-translational-elongation-of-the-3-utr-in-nefh
#1
Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song-Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' UTR. This study also identified a de novo c...
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28537780/science-is-1-inspiration-and-99-biomarkers
#2
Nicolas Dubuisson, Fabiola Puentes, Gavin Giovannoni, Sharmilee Gnanapavan
Neurodegeneration plays a key role in multiple sclerosis (MS) contributing to long-term disability in patients. The prognosis is, however, unpredictable coloured by complex disease mechanisms which can only be clearly appreciated using biomarkers specific to pathobiology of the underlying process. Here, we describe six promising neurodegenerative biomarkers in MS (neurofilament proteins, neurofilament antibodies, tau, N-acetylaspartate, chitinase and chitinase-like proteins and osteopontin), critically evaluating the evidence using a modified Bradford Hill criteria...
May 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28537100/cerebrospinal-fluid-neurofilament-light-levels-mark-grey-matter-volume-in-clinically-isolated-syndrome-suggestive-of-multiple-sclerosis
#3
Carla Tortorella, Vita Direnzo, Maddalena Ruggieri, Stefano Zoccolella, Mariangela Mastrapasqua, Mariangela D'Onghia, Damiano Paolicelli, Franca Di Cuonzo, Claudio Gasperini, Maria Trojano
BACKGROUND: Brain atrophy is a known marker of irreversible tissue damage in multiple sclerosis (MS). Cerebrospinal fluid (CSF) osteopontin (OPN) and neurofilament light chain (NF-L) have been proposed as candidate surrogate markers of inflammatory and neurodegenerative processes in MS. OBJECTIVE: To evaluate the relationship between CSF NF-L and OPN levels and brain grey and white matter volumes in patients with clinically isolated syndrome (CIS) suggestive of MS...
May 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28535259/altered-organisation-of-the-intermediate-filament-cytoskeleton-and-relocalisation-of-proteostasis-modulators-in-cells-lacking-the-ataxia-protein-sacsin
#4
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J Hayes, Lisa E L Romano, Suran Nethisinghe, Paola Giunti, Michaela B Bruntraeger, Heather D Durham, Bernard Brais, Francesca Maltecca, Benoit J Gentil, J Paul Chapple
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the gene SACS, encoding the 520 kDa protein sacsin. Although sacsin's physiological role is largely unknown, its sequence domains suggest a molecular chaperone or protein quality control function. Consequences of its loss include neurofilament network abnormalities, specifically accumulation and bundling of perikaryal and dendritic neurofilaments.To investigate if loss of sacsin affects intermediate filaments more generally, the distribution of vimentin was analysed in ARSACS patient fibroblasts and in cells where sacsin expression was reduced...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28534946/differentiation-of-nestin%C3%A2-negative-human-hair-follicle-outer-root-sheath-cells-into-neurons-in%C3%A2-vitro
#5
Wei Wu, Xiao-Li Wu, Yu-Qing Ji, Zhen Gao
A specialized quiescent population of hair follicle stem cells, residing in the hair follicle outer root sheath cells (ORSCs), has previously demonstrated pluripotency for differentiation into neural stem cells (NSCs). A previous study indicated that nestin‑positive hair follicle ORSCs are able to differentiate into neurons. However, little has been reported on the isolation of nestin‑negative human ORSCs and whether they can successfully differentiate into neurons in vitro. In the present study, nestin‑positive ORSCs were significantly reduced with a prolonged incubation time in vitro...
May 16, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28534301/effects-of-acetyl-l-carnitine-in-diabetic-neuropathy-and-other-geriatric-disorders
#6
REVIEW
G Sergi, S Pizzato, F Piovesan, C Trevisan, N Veronese, E Manzato
A long history of diabetes mellitus and increasing age are associated with the onset of diabetic neuropathy, a painful and highly disabling complication with a prevalence peaking at 50% among elderly diabetic patients. Acetyl-L-carnitine (ALC) is a molecule derived from the acetylation of carnitine in the mitochondria that has an essential role in energy production. It has recently been proposed as a therapy to improve the symptoms of diabetic neuropathy. ALC is widely distributed in mammalian tissues, including the brain, blood-brain barrier, brain neurons, and astrocytes...
May 22, 2017: Aging Clinical and Experimental Research
https://www.readbyqxmd.com/read/28533392/syringe-injectable-mesh-electronics-integrate-seamlessly-with-minimal-chronic-immune-response-in-the-brain
#7
Tao Zhou, Guosong Hong, Tian-Ming Fu, Xiao Yang, Thomas G Schuhmann, Robert D Viveros, Charles M Lieber
Implantation of electrical probes into the brain has been central to both neuroscience research and biomedical applications, although conventional probes induce gliosis in surrounding tissue. We recently reported ultraflexible open mesh electronics implanted into rodent brains by syringe injection that exhibit promising chronic tissue response and recording stability. Here we report time-dependent histology studies of the mesh electronics/brain-tissue interface obtained from sections perpendicular and parallel to probe long axis, as well as studies of conventional flexible thin-film probes...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28527630/diagnostic-accuracy-of-csf-neurofilament-light-chain-protein-in-the-biomarker-guided-classification-system-for-alzheimer-s-disease
#8
Simone Lista, Nicola Toschi, Filippo Baldacci, Henrik Zetterberg, Kaj Blennow, Ingo Kilimann, Stefan J Teipel, Enrica Cavedo, Antonio Melo Dos Santos, Stéphane Epelbaum, Foudil Lamari, Bruno Dubois, Roberto Floris, Francesco Garaci, Harald Hampel
We assessed the diagnostic accuracy of cerebrospinal fluid (CSF) neurofilament light chain (NFL) protein in the classification of patients with Alzheimer's disease (AD) and cognitively healthy control individuals (HCs) and patients with frontotemporal dementia (FTD) as comparisons. Particularly, we tested the performance of CSF NFL concentration in differentiating patient groups stratified by fluid biomarker profiles, independently of the severity of cognitive impairment (mild cognitive impairment (MCI) and AD dementia individuals), using a biomarker-guided descriptive classification system for AD...
May 17, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28525592/neurosyphilis-increases-hiv-associated-central-nervous-system-inflammation-but-does-not-explain-cognitive-impairment-in-hiv-infected-individuals-with-syphilis
#9
Emily L Ho, Clare L Maxwell, Shelia B Dunaway, Sharon K Sahi, Lauren C Tantalo, Sheila A Lukehart, Christina M Marra
Background: HIV-infected individuals with previous syphilis have cognitive impairment. We tested the hypothesis that neurosyphilis causes cognitive impairment in HIV by amplifying HIV-related CNS inflammation. Methods: 132 HIV-infected participants enrolled in a study of CSF abnormalities in syphilis underwent the mental alternation test (MAT), venipuncture and lumbar puncture. CSF concentrations of chemokine (C-X-C motif) ligand 10 (CXCL10), chemokine (C-C motif) ligand 2 (CCL2) and neurofilament light (NFL) were determined by commercial assays...
May 19, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28524374/possible-role-of-the-myelinated-neural-network-in-the-parietal-peritoneum-in-rats-as-a-mechanoreceptor
#10
Koichi Tanaka, Sachi Kuwahara-Otani, Seishi Maeda, Yusuke Minato, Hideshi Yagi
A network of myelinated nerve fibers in the peritoneum covers the abdominal wall. We studied the topographic distribution of this network, explored the fibers' destination in the central nervous system, and examined the markers in these fibers in order to identify the nature of the sensation conveyed by the network of nerve fibers in rats. We used Sihler's method, which stains myelinated fibers in whole mount materials, and observed a dense nerve network and endings toward the peritoneal cavity in the peritoneum that covers the abdomen's lateral bulge...
May 19, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28524176/lentivirus-mediated-microrna-124-gene-modified-bone-marrow-mesenchymal-stem-cell-transplantation-promotes-the-repair-of-spinal-cord-injury-in-rats
#11
Jia-Lin Song, Wei Zheng, Wei Chen, Yun Qian, Yuan-Ming Ouyang, Cun-Yi Fan
Our study aims to explore the effects of lentivirus-mediated microRNA-124 (miR-124) gene-modified bone marrow mesenchymal stem cell (BMSC) transplantation on the repair of spinal cord injury (SCI) in rats. BMSCs were isolated from the bone marrow of rats. The target gene miR-124 was identified using a luciferase-reporter gene assay. Seventy-two rats were selected for construction of the SCI model, and the rats were randomly divided into the blank group, sham group, SCI group, negative control (NC) group, overexpressed miR-124 group and si-PDXK group...
May 19, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/28524001/brain-derived-neurotrophic-factor-promotes-growth-of-neurons-and-neural-stem-cells-possibly-by-triggering-the-phosphoinositide-3-kinase-akt-glycogen-synthase-kinase-3%C3%AE-%C3%AE-catenin-pathway
#12
Jin-Wei Yang, Zhang Liang, Shi-Kang Deng Deng, Wei Ma, Xian-Bin Wang, Xing-Tong Li, Tong-Tong Wang, Yun-Fei Dai, Jian-Hui Guo, Li-Yan Li
BACKGROUND: Brain-derived neurotrophic factor (BDNF) plays a crucial role in promoting survival and differentiation of neurons and neural stem cells (NSCs), but the downstream regulating mechanisms remain poorly understood. OBJECTIVE: We investigated whether BDNF exerts its effect by triggering the phosphoinositide 3-kinase (PI3K), protein kinase B, PKB (AKT), glycogen synthase kinase-3β (GSK-3β) and β-catenin signaling pathway in cultured neurons and NSCs derived from the rat embryonic spinal cord...
May 18, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28522263/serum-concentrations-of-the-axonal-injury-marker-neurofilament-light-protein-are-not-influenced-by-blood-brain-barrier-permeability
#13
Marie Kalm, Martina Boström, Åsa Sandelius, Yohanna Eriksson, C Joakim Ek, Kaj Blennow, Thomas Björk-Eriksson, Henrik Zetterberg
A blood biomarker to monitor individual susceptibility to neuronal injury from cranial radiotherapy could potentially help to individualize radiation treatment and thereby reduce the incidence and severity of late effects. An important feature of such a blood biomarker is that its concentration is not confounded by varying degrees of release from the brain into the blood across the blood-brain barrier (BBB). In this study, we investigated serum neurofilament light protein (NFL) concentrations in 21-day old mice following a single dose of cranial irradiation (8 Gy)...
May 15, 2017: Brain Research
https://www.readbyqxmd.com/read/28512753/serum-neurofilament-light-a-biomarker-of-neuronal-damage-in-multiple-sclerosis
#14
Giulio Disanto, Christian Barro, Pascal Benkert, Yvonne Naegelin, Sabine Schädelin, Antonella Giardiello, Chiara Zecca, Kaj Blennow, Henrik Zetterberg, David Leppert, Ludwig Kappos, Claudio Gobbi, Jens Kuhle
OBJECTIVE: Neurofilament light chains (NfL) are unique to neuronal cells, are shed to the CSF and are detectable at low concentrations in peripheral blood. Various diseases causing neuronal damage have resulted in elevated CSF concentrations. We explored the value of an ultrasensitive single-molecule array (Simoa) serum NfL (sNfL) assay in MS. METHODS: sNfL levels were measured in healthy controls (HC, n=254) and two independent MS cohorts: (1) cross-sectional with paired serum and CSF samples (n=142); (2) longitudinal with repeated serum sampling (n=246, median (IQR) follow-up 3...
May 16, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28505008/multinodular-and-vacuolating-neuronal-tumor-a-rare-seizure-associated-entity
#15
Sahara J Cathcart, Jeffrey R Klug, Jason T Helvey, Matthew L White, Andrew P Gard, Rodney D McComb
Multinodular and vacuolating neuronal tumor is a recently described seizure-associated entity with overlapping features of a malformative and neoplastic process. We report a case of multinodular and vacuolating neuronal tumor in a 29-year-old man with a history of recent headaches and complex partial seizures. Neuroimaging revealed a nonenhancing, T2 and T2 fluid-attenuated inversion recovery hyperintense multinodular lesion in the right temporal lobe. Lesional tissue demonstrated well-demarcated nodules of ganglioid cells with vacuolation of both the perikarya and the fibrillary neuropil-like background...
May 12, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28504118/direct-evidence-of-central-nervous-system-axonal-damage-in-patients-with-postoperative-delirium-a-preliminary-study-of-pnf-h-as-a-promising-serum-biomarker
#16
Reo Inoue, Masahiko Sumitani, Toru Ogata, Hirotaka Chikuda, Takehiro Matsubara, So Kato, Nobutake Shimojo, Kanji Uchida, Yoshitsugu Yamada
INTRODUCTION: Approximately 50%-80% patients experience postoperative delirium, an acute cognitive dysfunction associated with prolonged hospitalization, increased mortality, excess healthcare costs, and persistent cognitive impairment. Elucidation of the mechanism of delirium and associated diagnostic and therapeutic measures are urgently required. Here we investigated the role of phosphorylated neurofilament heavy subunit (pNF-H), a major structural protein in axons, as a predictive maker of postoperative delirium...
May 11, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28502321/cytomegalovirus-in-the-human-dentate-gyrus-and-its-impact-on-neural-progenitor-cells-report-of-two-cases
#17
Ju-Yoon Yoon, Brett Danielson, Derek Mathis, Jason Karamchandani, David G Munoz
Congenital cytomegalovirus (CMV) infection in the 2nd and 3rd trimester results in catastrophic CNS abnormalities. This susceptibility is thought to result from the high proportion of neural stem cells in the developing brain. In immunocompromised adults, CNS infection by CMV preferentially affects ependymal surfaces, from where it expands to involve the parenchyma. Experimental models of murine CMV infection demonstrate viral tropism for the dentate gyrus (DG) and subventricular zone, the areas in which adult neurogenesis occurs...
May 15, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28501821/genetic-and-clinical-characteristics-of-nefl-related-charcot-marie-tooth-disease
#18
Alejandro Horga, Matilde Laurà, Zane Jaunmuktane, Nivedita U Jerath, Michael A Gonzalez, James M Polke, Roy Poh, Julian C Blake, Yo-Tsen Liu, Sarah Wiethoff, Conceição Bettencourt, Michael Pt Lunn, Hadi Manji, Michael G Hanna, Henry Houlden, Sebastian Brandner, Stephan Züchner, Michael Shy, Mary M Reilly
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified...
May 13, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28500227/neurofilament-markers-for-als-correlate-with-extent-of-upper-and-lower-motor-neuron-disease
#19
Koen Poesen, Maxim De Schaepdryver, Beatrice Stubendorff, Benjamin Gille, Petra Muckova, Sindy Wendler, Tino Prell, Thomas M Ringer, Heidrun Rhode, Olivier Stevens, Kristl G Claeys, Goedele Couwelier, Ann D'Hondt, Nikita Lamaire, Petra Tilkin, Dimphna Van Reijen, Sarah Gourmaud, Nadin Fedtke, Bianka Heiling, Matthias Rumpel, Annekathrin Rödiger, Anne Gunkel, Otto W Witte, Claire Paquet, Rik Vandenberghe, Julian Grosskreutz, Philip Van Damme
OBJECTIVE: To determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at the diagnostic phase. METHODS: We measured CSF pNfH and NfL concentrations in 220 patients with ALS, 316 neurologic disease controls (DC), and 50 genuine disease mimics (DM) to determine and assess the accuracy of the diagnostic cutoff value for pNfH and NfL and to correlate with other clinical parameters...
May 12, 2017: Neurology
https://www.readbyqxmd.com/read/28498493/involvement-of-microglia-in-early-axoglial-alterations-of-the-optic-nerve-induced-by-experimental-glaucoma
#20
Melina P Bordone, María F González Fleitas, Laura A Pasquini, Alejandra Bosco, Pablo H Sande, Ruth E Rosenstein, Damián Dorfman
Glaucoma is a leading cause of blindness, characterized by retinal ganglion cell (RGC) loss and optic nerve (ON) damage. Cumulative evidence suggests glial cell involvement in the degeneration of the ON and RGCs. We analyzed the contribution of microglial reactivity to early axoglial alterations of the ON in an induced model of ocular hypertension. For this purpose, vehicle or chondroitin sulfate (CS) were weekly injected into the eye anterior chamber from Wistar rats for different intervals. The amount of Brn3a(+) RGC significantly decreased in CS-injected eyes for 10 and 15 (but not 6) weeks...
May 12, 2017: Journal of Neurochemistry
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