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https://www.readbyqxmd.com/read/28431606/screening-for-cognitive-and-behavioural-impairment-in-amyotrophic-lateral-sclerosis-frequency-of-abnormality-and-effect-on-survival
#1
Zhouwei Xu, Ashwag Rafea S Alruwaili, Robert David Henderson, Pamela Ann McCombe
OBJECTIVE: To screen for cognitive and behavioural impairment in people with amyotrophic lateral sclerosis (ALS) and controls with neuromuscular disease and to correlate these with clinical features. METHODS: 108 people with ALS and 60 controls with other neuromuscular diseases were recruited and assessed with the Addenbrooke's cognitive examination-III (ACE-III), the frontal assessment battery (FAB), and the executive function component of the Edinburgh cognitive and behavioural ALS screen (ECAS)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28426667/bioenergetic-status-modulates-motor-neuron-vulnerability-and-pathogenesis-in-a-zebrafish-model-of-spinal-muscular-atrophy
#2
Penelope J Boyd, Wen-Yo Tu, Hannah K Shorrock, Ewout J N Groen, Roderick N Carter, Rachael A Powis, Sophie R Thomson, Derek Thomson, Laura C Graham, Anna A L Motyl, Thomas M Wishart, J Robin Highley, Nicholas M Morton, Thomas Becker, Catherina G Becker, Paul R Heath, Thomas H Gillingwater
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein. One remarkable, yet unresolved, feature of SMA is that not all motor neurons are equally affected, with some populations displaying a robust resistance to the disease. Here, we demonstrate that selective vulnerability of distinct motor neuron pools arises from fundamental modifications to their basal molecular profiles...
April 20, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28418071/chronic-exposure-to-graphene-based-nanomaterials-induces-behavioral-deficits-and-neural-damage-in-caenorhabditis-elegans
#3
Ping Li, Tiantian Xu, Siyu Wu, Lili Lei, Defu He
Nanomaterials of graphene and its derivatives have been widely applied in recent years, but whose impacts on the environment and health are still not well understood. In the present study, the potential adverse effects of graphite (G), graphite oxide nanoplatelets (GO) and graphene quantum dots (GQDs) on the motor nervous system were investigated using nematode Caenorhabditis elegans as the assay system. After being characterized using TEM, SEM, XPS and PLE, three nanomaterials were chronically exposed to C...
April 18, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28417262/melatonin-inhibits-neural-cell-apoptosis-and-promotes-locomotor-recovery-via-activation-of-the-wnt-%C3%AE-catenin-signaling-pathway-after-spinal-cord-injury
#4
Zhaoliang Shen, Zipeng Zhou, Shuang Gao, Yue Guo, Kai Gao, Haoyu Wang, Xiaoqian Dang
The spinal cord is highly sensitive to spinal cord injury (SCI) by external mechanical damage, resulting in irreversible neurological damage. Activation of the Wnt/β-catenin signaling pathway can effectively reduce apoptosis and protect against SCI. Melatonin, an indoleamine originally isolated from bovine pineal tissue, exerts neuroprotective effects after SCI through activation of the Wnt/β-catenin signaling pathway. In this study, we demonstrated that melatonin exhibited neuroprotective effects on neuronal apoptosis and supported functional recovery in a rat SCI model by activating the Wnt/β-catenin signaling pathway...
April 18, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28412171/gender-specific-amelioration-of-sma-phenotype-upon-disruption-of-a-deep-intronic-structure-by-an-oligonucleotide
#5
Matthew D Howell, Eric W Ottesen, Natalia N Singh, Rachel L Anderson, Ravindra N Singh
Spinal muscular atrophy (SMA), the leading genetic disease of children, is caused by low levels of survival motor neuron (SMN) protein. Here, we employ A15/283, an antisense oligonucleotide targeting a deep intronic sequence/structure, to examine the impact of restoration of SMN in a mild SMA mouse model. We show gender-specific amelioration of tail necrosis upon subcutaneous administrations of A15/283 into SMA mice at postnatal days 1 and 3. We also demonstrate that a modest increase in SMN due to early administrations of A15/283 dramatically improves testicular development and spermatogenesis...
April 13, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28410251/association-of-need-for-tracheotomy-with-decreasing-mechanical-in-exsufflation-flows-in-amyotrophic-lateral-sclerosis
#6
John R Bach, Neelam Upadhyaya
Although patients with lower motor neuron and myopathic disorders can prolong their lives by depending on continuous noninvasive ventilatory support, most patients with amyotrophic lateral sclerosis (ALS) cannot and must use tracheostomy mechanical ventilation to prolong survival. This case demonstrates that this occurs because amyotrophic lateral sclerosis patients' upper motor neuron reflex laryngeal closure and stridor cause upper airway collapse that renders mechanical insufflation-exsufflation (MIE) ineffective in expulsing airway secretions as well as for permitting continuous noninvasive ventilatory support...
April 13, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28408761/endothelial-and-astrocytic-support-by-human-bone-marrow-stem-cell-grafts-into-symptomatic-als-mice-towards-blood-spinal-cord-barrier-repair
#7
Svitlana Garbuzova-Davis, Crupa Kurien, Avery Thomson, Dimitri Falco, Sohaib Ahmad, Joseph Staffetti, George Steiner, Sophia Abraham, Greeshma James, Ajay Mahendrasah, Paul R Sanberg, Cesario V Borlongan
Vascular pathology, including blood-CNS barrier (B-CNS-B) damage via endothelial cell (EC) degeneration, is a recently recognized hallmark of Amyotrophic Lateral Sclerosis (ALS) pathogenesis. B-CNS-B repair may be a new therapeutic approach for ALS. This study aimed to determine effects of transplanted unmodified human bone marrow CD34+ (hBM34+) cells into symptomatic G93A mice towards blood-spinal cord barrier (BSCB) repair. Thirteen weeks old G93A mice intravenously received one of three different doses of hBM34+ cells...
April 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28405184/optical-imaging-of-the-motor-cortex-following-antidromic-activation-of-the-corticospinal-tract-after-spinal-cord-injury
#8
Kyung H Lee, Un J Kim, Se W Park, Yong G Park, Bae H Lee
Spinal cord injury (SCI) disrupts neuronal networks of ascending and descending tracts at the site of injury, leading to a loss of motor function. Restoration and new circuit formation are important components of the recovery process, which involves collateral sprouting of injured and uninjured fibers. The present study was conducted to determine cortical responses to antidromic stimulation of the corticospinal tracts, to compare changes in the reorganization of neural pathways within normal and spinal cord-injured rats, and to elucidate differences in spatiotemporal activity patterns of the natural progression and reorganization of neural pathways in normal and SCI animals using optical imaging...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28405022/therapeutic-reduction-of-ataxin-2-extends-lifespan-and-reduces-pathology-in-tdp-43-mice
#9
Lindsay A Becker, Brenda Huang, Gregor Bieri, Rosanna Ma, David A Knowles, Paymaan Jafar-Nejad, James Messing, Hong Joo Kim, Armand Soriano, Georg Auburger, Stefan M Pulst, J Paul Taylor, Frank Rigo, Aaron D Gitler
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease that is characterized by motor neuron loss and that leads to paralysis and death 2-5 years after disease onset. Nearly all patients with ALS have aggregates of the RNA-binding protein TDP-43 in their brains and spinal cords, and rare mutations in the gene encoding TDP-43 can cause ALS. There are no effective TDP-43-directed therapies for ALS or related TDP-43 proteinopathies, such as frontotemporal dementia. Antisense oligonucleotides (ASOs) and RNA-interference approaches are emerging as attractive therapeutic strategies in neurological diseases...
April 20, 2017: Nature
https://www.readbyqxmd.com/read/28403681/atrophy-ultra-structural-disorders-severe-atrophy-and-degeneration-of-denervated-human-muscle-in-sci-and-aging-implications-for-their-recovery-by-functional-electrical-stimulation-updated-2017
#10
Helmut Kern, Cristian Hofer, Stefan Loefler, Sandra Zampieri, Paolo Gargiulo, Alfonc Baba, Andrea Marcante, Francesco Piccione, Amber Pond, Ugo Carraro
OBJECTIVES: Long-term lower motor neuron denervation of skeletal muscle is known to result in degeneration of muscle with replacement by adipose and fibrotic tissues. However, long-term survival of a subset of skeletal myofibers also occurs. METHODS: We performed transverse and longitudinal studies of patients with spinal cord injury (SCI), patients specifically complete Conus and Cauda Equina Syndrome and also of active and sedentary seniors which included analyses of muscle biopsies from the quadriceps m...
April 13, 2017: Neurological Research
https://www.readbyqxmd.com/read/28400976/iss-n1-makes-the-first-fda-approved-drug-for-spinal-muscular-atrophy
#11
Eric W Ottesen
Spinal muscular atrophy (SMA) is one of the leading genetic diseases of children and infants. SMA is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, cannot compensate for the loss of SMN1 due to predominant skipping of exon 7. While various regulatory elements that modulate SMN2 exon 7 splicing have been proposed, intronic splicing silencer N1 (ISS-N1) has emerged as the most promising target thus far for antisense oligonucleotide-mediated splicing correction in SMA...
January 2017: Translational Neuroscience
https://www.readbyqxmd.com/read/28400791/axonal-remodeling-in-the-corticospinal-tract-after-stroke-how-does-rehabilitative-training-modulate-it
#12
REVIEW
Naohiko Okabe, Kazuhiko Narita, Osamu Miyamoto
Stroke causes long-term disability, and rehabilitative training is commonly used to improve the consecutive functional recovery. Following brain damage, surviving neurons undergo morphological alterations to reconstruct the remaining neural network. In the motor system, such neural network remodeling is observed as a motor map reorganization. Because of its significant correlation with functional recovery, motor map reorganization has been regarded as a key phenomenon for functional recovery after stroke. Although the mechanism underlying motor map reorganization remains unclear, increasing evidence has shown a critical role for axonal remodeling in the corticospinal tract...
February 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28400790/current-view-and-perspectives-in-amyotrophic-lateral-sclerosis
#13
REVIEW
Stéphane Mathis, Philippe Couratier, Adrien Julian, Philippe Corcia, Gwendal Le Masson
Amyotrophic lateral sclerosis (ALS), identified as a distinct clinical entity by Charcot since the end of the nineteenth century, is a devastating and fatal neurodegenerative disorder that affects motor neurons in the brain, brainstem and spinal cord. Survival of patients with ALS is associated with several factors such as clinical phenotype, age at onset, gender, early presence of respiratory failure, weight loss and treatment with Riluzole (the only disease-modifying drug approved for this disease). Nowadays, there is still no curative treatment for ALS: palliative care and symptomatic treatment are therefore essential components in the management of these patients...
February 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28399889/cardiac-pathology-in-spinal-muscular-atrophy-a-systematic-review
#14
REVIEW
C A Wijngaarde, A C Blank, M Stam, R I Wadman, L H van den Berg, W L van der Pol
BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28389270/combination-of-valproic-acid-and-morpholino-splice-switching-oligonucleotide-produces-improved-outcomes-in-spinal-muscular-atrophy-patient-derived-fibroblasts
#15
Anna Farrelly-Rosch, Chew Ling Lau, Nitin Patil, Bradley J Turner, Fazel Shabanpoor
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality worldwide, is characterised by the homozygous loss of the survival motor neuron 1 (SMN1) gene. The consequent degeneration of spinal motor neurons and progressive atrophy of voluntary muscle groups results in paralysis and eventually premature infantile death. Humans possess a second nearly identical copy of SMN1, known as SMN2. However, SMN2 produces only 10-20% functional SMN protein due to aberrant splicing of its pre-mRNA that leads to the exclusion of exon 7...
April 4, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28381927/the-effects-of-minocycline-on-spinal-root-avulsion-injury-in-rat-model
#16
Tan Yew Chin, Sim Sze Kiat, Hizal Ghazali Faizul, Wutian Wu, Jafri Malin Abdullah
BACKGROUND: The neuroprotective role of minocycline in the treatment of brachial plexus injury is controversial. OBJECTIVE: To study the neuroprotective effect of minocycline via different routes in adult Sprague Dawley rats with brachial plexus injury. METHODS: The C7 nerve roots of the animals were avulsed via an anterior extravertebral approach. Traction force was used to transect the ventral motor nerve roots at the preganglionic level...
March 2017: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/28379367/a-drosophila-model-of-als-reveals-a-partial-loss-of-function-of-causative-human-pfn1-mutants
#17
Chi-Hong Wu, Anthony Giampetruzzi, Helene Tran, Claudia Fallini, Fen-Biao Gao, John E Landers
Mutations in the profilin 1 (PFN1) gene are causative for familial amyotrophic lateral sclerosis (fALS). However, it is still not fully understood how these mutations lead to neurodegeneration. To address this question, we generated a novel Drosophila model expressing human wild-type and ALS-causative PFN1 mutants. We show that at larval neuromuscular junctions (NMJ), motor neuron expression of wild-type human PFN1 increases the number of ghost boutons, active zone density, F-actin content, and the formation of filopodia...
April 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28379354/motor-neuronal-repletion-of-the-nmj-organizer-agrin-modulates-the-severity-of-the-spinal-muscular-atrophy-disease-phenotype-in-model-mice
#18
Jeong-Ki Kim, Charlotte Caine, Tomoyuki Awano, Ruth Herbst, Umrao R Monani
Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein. Amongst the earliest detectable consequences of SMN deficiency are profound defects of the neuromuscular junctions (NMJs). In model mice these synapses appear disorganized, fail to mature and are characterized by poorly arborized nerve terminals. Given one role of the SMN protein in orchestrating the assembly of spliceosomal snRNP particles and subsequently regulating the alternative splicing of pre-mRNAs, a plausible link between SMN function and the distal neuromuscular SMA phenotype is an incorrectly spliced transcript or transcripts involved in establishing or maintaining NMJ structure...
March 31, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28373073/evaluation-of-monoacylglycerol-lipase-as-a-therapeutic-target-in-a-transgenic-mouse-model-of-als
#19
Noemi Pasquarelli, Michael Engelskirchen, Johannes Hanselmann, Sascha Endres, Christoph Porazik, Hanna Bayer, Eva Buck, Meliha Karsak, Patrick Weydt, Boris Ferger, Anke Witting
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the motor neuron system with limited therapeutic options. While an increasing number of ALS patients can be linked to a small number of autosomal-dominantly inherited cases, most cases are termed sporadic. Both forms are clinically and histopathologically indistinguishable, raising the prospect that they share key pathogenic steps, including potential therapeutic intervention points. The endocannabinoid system is emerging as a versatile, druggable therapeutic target in the CNS and its dysregulation is an early hallmark of neurodegeneration...
March 31, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28366534/sma-mutations-in-smn-tudor-and-c-terminal-domains-destabilize-the-protein
#20
Toru Takarada, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Masakazu Shinohara, Toshio Saito, Kayoko Saito, Poh San Lai, Yoshihiro Bouike, Yasuhiro Takeshima, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Atsuko Takeuchi
BACKGROUND AND PURPOSE: Most spinal muscular atrophy (SMA) patients are homozygous for survival of motor neuron 1 gene (SMN1) deletion. However, some SMA patients carry an intragenic SMN1 mutation. Such patients provide a clue to understanding the function of the SMN protein and the role of each domain of the protein. We previously identified mutations in the Tudor domain and C-terminal region of the SMN protein in three Japanese SMA patients. To clarify the effect of these mutations on protein stability, we conducted expression assays of SMN with mutated domains...
March 30, 2017: Brain & Development
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