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Amyotrophic lateral sclerosis

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https://www.readbyqxmd.com/read/28340431/utility-of-repetitive-nerve-stimulation-test-for-als-diagnosis
#1
Yuki Hatanaka, Mana Higashihara, Takashi Chiba, Yosuke Miyaji, Yasuomi Kawamura, Masahiro Sonoo
OBJECTIVE: Decremental responses in the repetitive nerve stimulation (RNS) test in amyotrophic lateral sclerosis (ALS) patients have been reported, although their possible diagnostic role has received little investigation. We investigated their diagnostic role in differentiation between ALS and cervical spondylotic amyotrophy (CSA), an important ALS mimic especially in Japan. METHODS: Patients were prospectively enrolled and the diagnosis was confirmed by follow-up...
March 6, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28338621/optimized-4-5-diarylimidazoles-as-potent-selective-inhibitors-of-protein-kinase-ck1%C3%AE-and-their-structural-relation-to-p38%C3%AE-mapk
#2
Jakob Halekotte, Lydia Witt, Chiara Ianes, Marc Krüger, Mike Bührmann, Daniel Rauh, Christian Pichlo, Elena Brunstein, Andreas Luxenburger, Ulrich Baumann, Uwe Knippschild, Joachim Bischof, Christian Peifer
The involvement of protein kinase CK1δ in the pathogenesis of severe disorders such as Alzheimer's disease, amyotrophic lateral sclerosis, familial advanced sleep phase syndrome, and cancer has dramatically increased interest in the development of effective small molecule inhibitors for both therapeutic application and basic research. Unfortunately, the design of CK1 isoform-specific compounds has proved to be highly complicated due to the existence of six evolutionarily conserved human CK1 members that possess similar, different, or even opposite physiological and pathophysiological implications...
March 24, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28337659/a20-in-multiple-sclerosis-and-parkinson-s-disease-clue-to-a-common-dysregulation-of-anti-inflammatory-pathways
#3
Simona Perga, Serena Martire, Francesca Montarolo, Nicole D Navone, Andrea Calvo, Giuseppe Fuda, Alberto Marchet, Daniela Leotta, Adriano Chiò, Antonio Bertolotto
Chronic inflammation significantly contributes to the pathogenesis of several neurodegenerative disorders. In physiological conditions, a chronic inflammatory state is prevented through the termination of the acute inflammatory response once the triggering insult is eliminated. Several mechanisms regulate the resolution of inflammation. Among these, a potent inhibitor of the pro-inflammatory NF-kB signaling known as A20 has emerged as a key player. Recent studies have shown reduced blood levels of A20 in the patients of diverse chronic inflammatory diseases...
March 23, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28337565/blood-trace-metals-in-a-sporadic-amyotrophic-lateral-sclerosis-geographical-cluster
#4
Stefano De Benedetti, Giorgio Lucchini, Cristian Del Bò, Valeria Deon, Alessandro Marocchi, Silvana Penco, Christian Lunetta, Elisabetta Gianazza, Francesco Bonomi, Stefania Iametti
Amyotrophic lateral sclerosis (ALS) is a fatal disorder with unknown etiology, in which genetic and environmental factors interplay to determine the onset and the course of the disease. Exposure to toxic metals has been proposed to be involved in the etiology of the disease either through a direct damage or by promoting oxidative stress. In this study we evaluated the concentration of a panel of metals in serum and whole blood of a small group of sporadic patients, all living in a defined geographical area, for which acid mine drainage has been reported...
March 23, 2017: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/28337412/differential-involvement-of-corticospinal-tract-cst-fibers-in-umn-predominant-als-patients-with-or-without-cst-hyperintensity-a-diffusion-tensor-tractography-study
#5
Venkateswaran Rajagopalan, Erik P Pioro
Diagnosis of amyotrophic lateral sclerosis (ALS) depends on clinical evidence of combined upper motor neuron (UMN) and lower motor neuron (LMN) degeneration, although ALS patients can present with features predominantly of one or the other. Some UMN-predominant patients show hyperintense signal along the intracranial corticospinal tract (CST) on T2- and proton density (PD)-weighted images (ALS-CST +), and appear to have faster disease progression when compared to those without CST hyperintensity (ALS-CST -)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28337409/network-degeneration-and-dysfunction-in-presymptomatic-c9orf72-expansion-carriers
#6
Suzee E Lee, Ana C Sias, Maria Luisa Mandelli, Jesse A Brown, Alainna B Brown, Anna M Khazenzon, Anna A Vidovszky, Theodore P Zanto, Anna M Karydas, Mochtar Pribadi, Deepika Dokuru, Giovanni Coppola, Dan H Geschwind, Rosa Rademakers, Maria Luisa Gorno-Tempini, Howard J Rosen, Bruce L Miller, William W Seeley
Hexanucleotide repeat expansions in C9ORF72 are the most common known genetic cause of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis. Previous work has shown that patients with behavioral variant frontotemporal dementia due to C9ORF72 show salience and sensorimotor network disruptions comparable to those seen in sporadic behavioral variant frontotemporal dementia, but it remains unknown how early in the lifespan these and other changes in brain structure and function arise...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28337172/bone-marrow-derived-cell-accumulation-in-the-spinal-cord-is-independent-of-peripheral-mobilization-in-a-mouse-model-of-amyotrophic-lateral-sclerosis
#7
Kyle Peake, John Manning, Coral-Ann Lewis, Kevin Tran, Fabio Rossi, Charles Krieger
Bone marrow-derived cells (BMDCs) are capable of migrating across the blood-brain barrier (BBB) and accumulating in the central nervous system (CNS) when transplanted into recipients conditioned with whole-body irradiation or chemotherapy. We used the chemotherapeutic agents busulfan and treosulfan to condition recipient mice for transplantation with bone marrow (BM) cells isolated from donor mice ubiquitously expressing green fluorescent protein. We attempted to increase the accumulation of BMDCs in the CNS by mobilization of BMDCs using either, or both, granulocyte colony-stimulating factor (GCSF) or plerixafor (AMD3100)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28336567/sox9-is-an-astrocyte-specific-nuclear-marker-in-the-adult-brain-outside-the-neurogenic-regions
#8
Wei Sun, Adam Cornwell, Jiashu Li, Sisi Peng, M Joana Osorio, Nadia Aalling Su Wanga, Abdellatif Benraiss, Nanhong Lou, Steven A Goldman, Maiken Nedergaard
Astrocytes have in recent years become the focus of intense experimental interest, yet markers for their definitive identification remain both scarce and imperfect. Astrocytes may be recognized as such by their expression of glial fibrillary acidic protein (GFAP), glutamine synthetase (GS), glutamate transporter 1 (GLT1)quaporin-4 (AQP4)ldehyde dehydrogenase 1 family member L1 (ALDH1L1)nd other proteins. Yet these proteins may all be regulated both developmentally and functionally, restricting their utility...
March 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28336525/extracellular-tdp-43-aggregates-target-mapk-mak-mrk-overlapping-kinase-mok-and-trigger-caspase-3-il-18-signaling-in-microglia
#9
María M Leal-Lasarte, Jaime M Franco, Adahir Labrador-Garrido, David Pozo, Cintia Roodveldt
Dysregulated microglial responses are central in neurodegenerative proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar disease (FTLD). Pathologic TDP-43, which is typically found in intracellular inclusions, is a misfolding protein with emerging roles in ALS and FTLD. Recently, TDP-43 species have been found in extracellular fluids of patients; however, the overall implications of TDP-43-mediated signaling linked to neuroinflammation are poorly understood. Our work-the first, to our knowledge, to focus on innate immunity responses to TDP-43 aggregates-shows that such species are internalized by microglia and cause abnormal mobilization of endogenous TDP-43...
March 23, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28335620/a-novel-mutation-of-bicd2-gene-associated-with-juvenile-amyotrophic-lateral-sclerosis
#10
Xiao Huang, Dongsheng Fan
No abstract text is available yet for this article.
March 23, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28335033/lingual-alveolar-contact-pressure-during-speech-in-amyotrophic-lateral-sclerosis-preliminary-findings
#11
Jeff Searl, Stephanie Knollhoff, Richard J Barohn
Purpose: This preliminary study on lingual-alveolar contact pressures (LACP) in people with amyotrophic lateral sclerosis (ALS) had several aims: (a) to evaluate whether the protocol induced fatigue, (b) to compare LACP during speech (LACP-Sp) and during maximum isometric pressing (LACP-Max) in people with ALS (PALS) versus healthy controls, (c) to compare the percentage of LACP-Max utilized during speech (%Max) for PALS versus controls, and (d) to evaluate relationships between LACP-Sp and LACP-Max with word intelligibility...
March 23, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28334913/tdp-43-mutations-causing-amyotrophic-lateral-sclerosis-are-associated-with-altered-expression-of-rna-binding-protein-hnrnp-k-and-affect-the-nrf2-antioxidant-pathway
#12
Diane Moujalled, Alexandra Grubman, Karla Acevedo, Shu Yang, Yazi D Ke, Donia M Moujalled, Clare Duncan, Aphrodite Caragounis, Nirma D Perera, Bradley J Turner, Mercedes Prudencio, Leonard Petrucelli, Ian Blair, Lars M Ittner, Peter J Crouch, Jeffrey R Liddell, Anthony R White
TAR DNA binding protein 43 (TDP-43) is a major disease-associated protein involved in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). Our previous studies found a direct association between TDP-43 and heterogeneous nuclear ribonucleoprotein K (hnRNP K). In this study, utilizing ALS patient fibroblasts harboring a TDP-43M337V mutation and NSC-34 motor neuronal cell line expressing TDP-43Q331K mutation, we show that hnRNP K expression is impaired in urea soluble extracts from mutant TDP-43 cell models...
March 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334866/c9orf72-and-rab7l1-regulate-vesicle-trafficking-in-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#13
Yoshitsugu Aoki, Raquel Manzano, Yi Lee, Ruxandra Dafinca, Misako Aoki, Andrew G L Douglas, Miguel A Varela, Chaitra Sathyaprakash, Jakub Scaber, Paola Barbagallo, Pieter Vader, Imre Mäger, Kariem Ezzat, Martin R Turner, Naoki Ito, Samanta Gasco, Norihiko Ohbayashi, Samir El Andaloussi, Shin'ichi Takeda, Mitsunori Fukuda, Kevin Talbot, Matthew J A Wood
A non-coding hexanucleotide repeat expansion in intron 1 of the C9orf72 gene is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), however, the precise molecular mechanism by which the C9orf72 hexanucleotide repeat expansion directs C9ALS/FTD pathogenesis remains unclear. Here, we report a novel disease mechanism arising due to the interaction of C9ORF72 with the RAB7L1 GTPase to regulate vesicle trafficking. Endogenous interaction between C9ORF72 and RAB7L1 was confirmed in human SH-SY5Y neuroblastoma cells...
February 23, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334804/a-critical-role-of-hrd1-in-the-regulation-of-optineurin-degradation-and-aggresome-formation
#14
Jiahui Mao, Qin Xia, Chunfeng Liu, Zheng Ying, Hongfeng Wang, Guanghui Wang
Mutations in optineurin (OPTN) are associated with several human disorders including amyotrophic lateral sclerosis (ALS) and primary open-angle glaucoma (POAG). OPTN is known to be a multifunctional autophagy receptor that plays important roles in NF-κB signaling, vesicle trafficking, maintenance of the Golgi apparatus and autophagy. Given that a loss of neurons and an abnormal aggregation of disease proteins are two key features of neurodegenerative diseases, protein quality control systems are considered to be tightly associated with neurodegeneration...
March 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332094/cryptic-exon-incorporation-occurs-in-alzheimer-s-brain-lacking-tdp-43-inclusion-but-exhibiting-nuclear-clearance-of-tdp-43
#15
Mingkuan Sun, William Bell, Katherine D LaClair, Jonathan P Ling, Heather Han, Yusuke Kageyama, Olga Pletnikova, Juan C Troncoso, Philip C Wong, Liam L Chen
Abnormal accumulation of TDP-43 into cytoplasmic or nuclear inclusions with accompanying nuclear clearance, a common pathology initially identified in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), has also been found in Alzheimer' disease (AD). TDP-43 serves as a splicing repressor of nonconserved cryptic exons and that such function is compromised in brains of ALS and FTD patients, suggesting that nuclear clearance of TDP-43 underlies its inability to repress cryptic exons. However, whether TDP-43 cytoplasmic aggregates are a prerequisite for the incorporation of cryptic exons is not known...
March 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28332040/edinburgh-cognitive-and-behavioural-als-screen-ecas-italian-version-regression-based-norms-and-equivalent-scores
#16
Mattia Siciliano, Luigi Trojano, Francesca Trojsi, Roberta Greco, Manuela Santoro, Giuseppe Basile, Fausta Piscopo, Alfonsina D'Iorio, Manila Patrone, Cinzia Femiano, Mariarosaria Monsurrò, Gioacchino Tedeschi, Gabriella Santangelo
Cognitive assessment for individuals with Amyotrophic Lateral Sclerosis (ALS) can be difficult because of frequent occurrence of difficulties with speech, writing, and drawing. The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) is a recent multi-domain neuropsychological screening tool specifically devised for this purpose, and it assesses the following domains: executive functions, social cognition, verbal fluency and language (ALS-specific), but also memory and visuospatial abilities (Non-ALS specific)...
March 22, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28331009/the-modulation-of-two-motor-behaviours-by-persistent-sodium-currents-in-xenopus-laevis-tadpoles
#17
Erik Svensson, Hugo Jeffreys, Wen-Chang Li
Persistent sodium currents (INaP) are common in neuronal circuitries and they have been implicated in several diseases like amyotrophic lateral sclerosis (ALS) and epilepsy. However, the role of INaP in the regulation of specific behaviours is still poorly understood. Here we have characterized INaP and investigated its role in the swimming and struggling behaviour of Xenopus tadpoles. INaP was identified in three groups of neurons, namely sensory Rohon-Beard neurons (RB neurons), descending interneurons (dINs), and non-dINs (neurons rhythmically active in swimming)...
March 22, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28330421/the-proteinopathy-of-d169g-and-k263e-mutants-at-the-rna-recognition-motif-rrm-domain-of-tar-dna-binding-protein-tdp43-causing-neurological-disorders-a-computational-study
#18
Vishwambhar Vishnu Bhandare, Amutha Ramaswamy
One of the multitasking proteins, transactive response DNA-binding protein 43 (tdp43) plays a key role in RNA regulation and the two pathogenic mutations such as D169G and K263E, located at the RNA Recognition Motif (RRM) of tdp43, are reported to cause neurological disorders such as Amyotrophic Lateral Sclerosis (ALS) and Fronto Temporal Lobar Degeneration (FTLD). As the exploration of the proteinopathy demands both structural and functional characterization of mutants, a comparative analysis on the wild type and mutant tdp43 (D169G and K263E) and their complexes with RNA have been performed using computational approaches...
March 22, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28328930/validation-of-qpcr-reference-genes-in-lymphocytes-from-patients-with-amyotrophic-lateral-sclerosis
#19
Ewa Usarek, Anna Barańczyk-Kuźma, Beata Kaźmierczak, Beata Gajewska, Magdalena Kuźma-Kozakiewicz
Quantitative polymerase chain reaction (qPCR) is the most specific and reliable method for determination of mRNA gene expression. Crucial point for its accurate normalization is the choice of appropriate internal control genes (ICGs). In the present work we determined and compare the expression of eight commonly used ICGs in lymphocytes from 26 patients with amyotrophic lateral sclerosis (ALS) and 30 control subjects. Peripheral blood mononuclear cells (PBMCs) before and after immortalization by EBV transfection (lymphoblast cell lines-LCLs) were used for qPCR analysis...
2017: PloS One
https://www.readbyqxmd.com/read/28326328/cooccurrences-of-putative-endogenous-retrovirus-associated-diseases
#20
REVIEW
Christine Brütting, Alexander Emmer, Malte E Kornhuber, Martin S Staege
At least 8% of the human genome is composed of endogenous retrovirus (ERV) sequences. ERVs play a role in placental morphogenesis and can sometimes protect the host against exogenous viruses. On the other hand, ERV reactivation has been found to be associated with different diseases, for example, multiple sclerosis (MS), schizophrenia, type 1 diabetes mellitus (T1D), or amyotrophic lateral sclerosis (ALS). Little is known about the cooccurrence of these diseases. If all these diseases are caused by ERV, antiretroviral therapy should perhaps also show some effects in the other diseases...
2017: BioMed Research International
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