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https://www.readbyqxmd.com/read/29161404/mutation-dependent-aggregation-and-toxicity-in-a-drosophila-model-for-ubqln2-associated-als
#1
Sang Hwa Kim, Shannon G Stiles, Joseph M Feichtmeier, Nandini Ramesh, Lihong Zhan, Mark A Scalf, Lloyd M Smith, Udai Bhan Pandey, Randal S Tibbetts
Members of the conserved ubiquilin (UBQLN) family of ubiquitin (Ub) chaperones harbor an antipodal UBL (Ub-like)-UBA (Ub-associated) domain arrangement and participate in proteasome and autophagosome-mediated protein degradation. Mutations in a proline-rich-repeat region (PRR) of UBQLN2 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD); however, neither the normal functions of the PRR nor impacts of ALS-associated mutations within it are well understood. In this study we show that ALS mutations perturb UBQLN2 solubility and folding in a mutation-specific manner...
November 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29160128/hospital-utilization-for-patients-with-amyotrophic-lateral-sclerosis-in-saskatoon-canada
#2
Adrianna Gunton, Gregory Hansen, Kerri Lynn Schellenberg
OBJECTIVE: This retrospective study reviewed hospital and intensive care unit (ICU) admissions for patients with amyotrophic lateral sclerosis (ALS) in Saskatoon, Canada, between 2005 and 2017. The purpose was to understand hospital utilization and admission patterns for patients with ALS in the absence of coordinated multidisciplinary care. METHODS: Hospital/ICU admissions were detected at two hospitals in Saskatoon using the International Classification of Diseases (ICD-10) coding for ALS...
November 21, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29159848/speech-deterioration-in-amyotrophic-lateral-sclerosis-als-after-manifestation-of-bulbar-symptoms
#3
Tanja Makkonen, Hanna Ruottinen, Riitta Puhto, Mika Helminen, Johanna Palmio
BACKGROUND: The symptoms and their progression in amyotrophic lateral sclerosis (ALS) are typically studied after the diagnosis has been confirmed. However, many people with ALS already have severe dysarthria and loss of adequate speech at the time of diagnosis. Speech-and-language therapy interventions should be targeted timely based on communicative need in ALS. AIMS: To investigate how long natural speech will remain functional and to identify the changes in the speech of persons with ALS...
November 21, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29154925/membrane-cholesterol-depletion-in-cortical-neurons-highlights-altered-nmda-receptor-functionality-in-a-mouse-model-of-amyotrophic-lateral-sclerosis
#4
Alessia Antonini, Silvia Caioli, Luana Saba, Giulia Vindigni, Silvia Biocca, Nadia Canu, Cristina Zona
Amyotrophic Lateral Sclerosis (ALS) is a chronic neurodegenerative disease affecting upper and lower motor neurons, with unknown aetiology. Lipid rafts, cholesterol enriched microdomains of the plasma membrane, have been linked to neurodegenerative disorders like ALS. The NMDA-receptor subcellular localization in lipid rafts is known to play many roles, from modulating memory strength to neurotoxicity. In this study, performed on the widely used G93A mouse model of ALS, we have shown an equal content of total membrane cholesterol in Control and G93A cortical cultures...
November 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29154923/dissociation-of-blood-brain-barrier-disruption-and-disease-manifestation-in-an-aquaporin-4-deficient-mouse-model-of-amyotrophic-lateral-sclerosis
#5
Saori Watanabe-Matsumoto, Yasuhiro Moriwaki, Takashi Okuda, Shinji Ohara, Koji Yamanaka, Yoichiro Abe, Masato Yasui, Hidemi Misawa
Aquaporin-4 (AQP4) is abundantly expressed in the central nervous system and is involved in the water balance in the cellular environment. Previous studies have reported that AQP4 expression is upregulated in rat models of amyotrophic lateral sclerosis (ALS), a fatal disease that affects motor neurons in the brain and spinal cord. In this study, we report that astrocytic AQP4 overexpression is evident during the course of disease in the spinal cord of an ALS mouse model, as well as in tissue from patients with ALS...
November 15, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/29154141/novel-genes-associated-with-amyotrophic-lateral-sclerosis-diagnostic-and-clinical-implications
#6
REVIEW
Ruth Chia, Adriano Chiò, Bryan J Traynor
BACKGROUND: The disease course of amyotrophic lateral sclerosis (ALS) is rapid and, because its pathophysiology is unclear, few effective treatments are available. Genetic research aims to understand the underlying mechanisms of ALS and identify potential therapeutic targets. The first gene associated with ALS was SOD1, identified in 1993 and, by early 2014, more than 20 genes had been identified as causative of, or highly associated with, ALS. These genetic discoveries have identified key disease pathways that are therapeutically testable and could potentially lead to the development of better treatments for people with ALS...
November 16, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/29154076/multiple-intracerebroventricular-injections-of-human-umbilical-cord-mesenchymal-stem-cells-delay-motor-neurons-loss-but-not-disease-progression-of-sod1g93a-mice
#7
Francesca Sironi, Antonio Vallarola, Martina Bruna Violatto, Laura Talamini, Mattia Freschi, Roberta De Gioia, Chiara Capelli, Azzurra Agostini, Davide Moscatelli, Massimo Tortarolo, Paolo Bigini, Martino Introna, Caterina Bendotti
Stem cell therapy is considered a promising approach in the treatment of amyotrophic lateral sclerosis (ALS) and mesenchymal stem cells (MSCs) seem to be the most effective in ALS animal models. The umbilical cord (UC) is a source of highly proliferating fetal MSCs, more easily collectable than other MSCs. Recently we demonstrated that human (h) UC-MSCs, double labeled with fluorescent nanoparticles and Hoechst-33258 and transplanted intracerebroventricularly (ICV) into SOD1G93A transgenic mice, partially migrated into the spinal cord after a single injection...
November 10, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29153601/neurodegenerative-diseases-the-immunological-perspective
#8
REVIEW
Monica Molteni, Carlo Rossetti
Increasing evidence supports the notion that the neurodegenerative process occurring in Alzheimer's disease (AD), Parkinson's disease (PD) and Amyotrophic Lateral Sclerosis (ALS) does not only imply the neuronal compartment but also involves a strong interaction with the immunological cells of the Central Nervous System (CNS), primarily microglia. Starting from the observation that the neurodegenerative disorders are frequent in elderly individuals, who have an immunological background that possibly favors this process, it is evident that a dysregulation of innate immune response triggered by misfolded and aggregated proteins, or by endogenous molecules released by injured neurons, directly contributes to disease pathogenesis and progression...
December 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29153328/tdp-43-promotes-neurodegeneration-by-impairing-chromatin-remodeling
#9
Amit Berson, Ashley Sartoris, Raffaella Nativio, Vivianna Van Deerlin, Jon B Toledo, Sílvia Porta, Shichong Liu, Chia-Yu Chung, Benjamin A Garcia, Virginia M-Y Lee, John Q Trojanowski, F Brad Johnson, Shelley L Berger, Nancy M Bonini
Regulation of chromatin structure is critical for brain development and function. However, the involvement of chromatin dynamics in neurodegeneration is less well understood. Here we find, launching from Drosophila models of amyotrophic lateral sclerosis and frontotemporal dementia, that TDP-43 impairs the induction of multiple key stress genes required to protect from disease by reducing the recruitment of the chromatin remodeler Chd1 to chromatin. Chd1 depletion robustly enhances TDP-43-mediated neurodegeneration and promotes the formation of stress granules...
November 9, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29150766/spinobot-an-mri-guided-needle-positioning-system-for-spinal-cellular-therapeutics
#10
Alexander Squires, John N Oshinski, Nicholas M Boulis, Zion Tsz Ho Tse
The neurodegenerative disease amyotrophic lateral sclerosis (ALS) results in the death of motor neurons in voluntary muscles. There are no cures for ALS and few available treatments. In studies with small animal models, injection of cellular therapeutics into the anterior horn of the spinal cord has been shown to inhibit the progression of ALS. It was hypothesized that spinal injection could be made faster and less invasive with the aid of a robot. The robotic system presented-SpinoBot-uses MRI guidance to position a needle for percutaneous injection into the spinal cord...
November 17, 2017: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/29150385/igf-1r-mrna-expression-is-increased-in-obese-children
#11
Rafaela Cristina Ricco, Rubens Garcia Ricco, Mariangela Carletti Queluz, Mariana Teresa Sarti de Paula, Patricia Volpon Atique, Rodrigo José Custódio, Hugo Tourinho Filho, Raphael Del Roio Liberatori, Carlos Eduardo Martinelli
OBJECTIVES: Obese children are often taller than age-matched subjects. Reports on GH and IGF-I levels in obese individuals are controversial, with normal and reduced GH-IGF-I levels having been reported in this group of patients. Thus, the aim of this study was to analyse insulin-like growth factor type 1 receptor (IGF-IR) mRNA expression in obese children. METHODS: Forty-seven pre-pubertal children were included in this study: 29 were obese and taller than their target height, and 18 were normal eutrophic controls...
November 11, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29149916/whole-exome-sequencing-in-amyotrophic-lateral-sclerosis-suggests-nek1-is-a-risk-gene-in-chinese
#12
Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris, Anjali K Henders, Zi-Bing Jin, Zhongshan Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Bryan J Mowry, Shu Ran, David C Reutens, Sharon Song, Li-Jun Tan, Lu Tang, Robyn H Wallace, Lawrie Wheeler, Jinyu Wu, Jian Yang, Huji Xu, Peter M Visscher, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding of disease aetiology, with median survival of ALS of three years and no effective treatment. Identifying genes that contribute to ALS susceptibility is an important step towards understanding aetiology. The vast majority of published human genetic studies, including for ALS, have used samples of European ancestry...
November 17, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29149058/neurotrophic-and-neuroregenerative-effects-of-gh-igf1
#13
Vittorio Emanuele Bianchi, Vittorio Locatelli, Laura Rizzi
INTRODUCTION: Human neurodegenerative diseases increase progressively with age and present a high social and economic burden. Growth hormone (GH) and insulin-like growth factor-1 (IGF-1) are both growth factors exerting trophic effects on neuronal regeneration in the central nervous system (CNS) and peripheral nervous system (PNS). GH and IGF-1 stimulate protein synthesis in neurons, glia, oligodendrocytes, and Schwann cells, and favor neuronal survival, inhibiting apoptosis. This study aims to evaluate the effect of GH and IGF-1 on neurons, and their possible therapeutic clinical applications on neuron regeneration in human subjects...
November 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29148165/dinitroaniline-herbicide-resistance-in-a-multiple-resistant-lolium-rigidum-population
#14
Jinyi Chen, Qin Yu, Mechelle Owen, Heping Han, Stephen Powles
BACKGROUND: The pre-emergence dinitroaniline herbicides (such as trifluralin and pendimethalin) are vital to Australian no-till farming systems. A Lolium rigidum population collected from the Western Australian grain belt with a 12-year trifluralin use history was characterised for resistance to dinitroaniline, acetyl CoA carboxylase (ACCase)- and acetolactate synthase (ALS)-inhibiting herbicides. Target-site resistance mechanisms were investigated. RESULTS: This L...
November 16, 2017: Pest Management Science
https://www.readbyqxmd.com/read/29148035/late-age-onset-of-amyotrophic-lateral-sclerosis-is-often-not-considered-in-elderly-people
#15
E Broussalis, S Grinzinger, A B Kunz, M Killer-Oberpfalzer, E Haschke-Becher, H-P Hartung, J Kraus
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease causing an upper and lower motor neuron loss. It is neurology textbook knowledge that the mean age of onset is about 60 years. However, recent investigations show an increasing incidence in older persons. We therefore evaluated whether ALS is potentially not considered in elderly people with ALS symptoms, respectively, not recognized. MATERIALS AND METHODS: We included retrospectively all patients with ALS diagnoses after work-up that were admitted to our neurological and geriatric departments from 2007 to 2010 and collected their clinical data...
November 17, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29146049/common-and-rare-tbk1-variants-in-early-onset-alzheimer-disease-in-a-european-cohort
#16
Jan Verheijen, Julie van der Zee, Ilse Gijselinck, Tobi Van den Bossche, Lubina Dillen, Bavo Heeman, Estrella Gómez-Tortosa, Albert Lladó, Raquel Sanchez-Valle, Caroline Graff, Pau Pastor, Maria A Pastor, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Jordi Clarimon, Alexandre de Mendonça, Ellen Gelpi, Magda Tsolaki, Janine Diehl-Schmid, Benedetta Nacmias, Maria Rosário Almeida, Barbara Borroni, Radoslav Matej, Agustín Ruiz, Sebastiaan Engelborghs, Rik Vandenberghe, Peter P De Deyn, Marc Cruts, Christine Van Broeckhoven, Kristel Sleegers
TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among patients with clinical diagnosis of EOAD. Variant frequencies were compared against 2117 origin-matched controls...
October 25, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29143574/investigating-the-preventive-effects-of-baicalin-and-gallocatechin-aginst-glyoxal-induced-cystatin-aggregation
#17
Aamir Sohail, Waseem Feeroze Bhat, Mohammad Furkan, Aaliya Shah, Bilqees Bano
Several mammalian proteins form pathological deposits under nonphysiological conditions that are associated with many degenerative diseases. Protein aggregation is associated with aging, as well as a variety of diseases, including cystic fibrosis, amyotrophic lateral sclerosis (ALS), and hypertrophic cardiomyopathy. There is a lack of any potential anti-amyloidogenic agents and therapeutics till date. Polyphenols have been accredited with myriad biological effects. An analysis of the effects of natural agents like baicalin (BC) and gallocatechin (GC) on aggregation process can open new avenues for the treatment of protein misfolding diseases...
November 16, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29142739/classification-of-amyotrophic-lateral-sclerosis-disease-based-on-convolutional-neural-network-and-reinforcement-sample-learning-algorithm
#18
Abdulkadir Sengur, Yaman Akbulut, Yanhui Guo, Varun Bajaj
Electromyogram (EMG) signals contain useful information of the neuromuscular diseases like amyotrophic lateral sclerosis (ALS). ALS is a well-known brain disease, which can progressively degenerate the motor neurons. In this paper, we propose a deep learning based method for efficient classification of ALS and normal EMG signals. Spectrogram, continuous wavelet transform (CWT), and smoothed pseudo Wigner-Ville distribution (SPWVD) have been employed for time-frequency (T-F) representation of EMG signals. A convolutional neural network is employed to classify these features...
December 2017: Health Information Science and Systems
https://www.readbyqxmd.com/read/29142524/a-case-of-celiac-disease-with-neurologic-manifestations-misdiagnosed-as-amyotrophic-lateral-sclerosis
#19
Hyoju Ham, Bo-In Lee, Hyun Jin Oh, Se Hwan Park, Jin Su Kim, Jae Myung Park, Young Seok Cho, Myung-Gyu Choi
Celiac disease (CD) is an immune-mediated enteropathy and is a rare disease in Asia, including in Korea. However, the ingestion of wheat products, which can act as a precipitating factor of CD, has increased rapidly. CD is a common cause of malabsorption, but many patients can present with various atypical manifestations as first presented symptoms, including anemia, osteopenia, infertility, and neurological symptoms. Thus, making a diagnosis is challenging. We report a case of CD that mimicked amyotrophic lateral sclerosis (ALS)...
October 2017: Intestinal Research
https://www.readbyqxmd.com/read/29142232/tdp-43-misexpression-causes-defects-in-dendritic-growth
#20
Josiah J Herzog, Mugdha Deshpande, Leah Shapiro, Avital A Rodal, Suzanne Paradis
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) share overlapping genetic causes and disease symptoms, and are linked neuropathologically by the RNA binding protein TDP-43 (TAR DNA binding protein-43 kDa). TDP-43 regulates RNA metabolism, trafficking, and localization of thousands of target genes. However, the cellular and molecular mechanisms by which dysfunction of TDP-43 contributes to disease pathogenesis and progression remain unclear. Severe changes in the structure of neuronal dendritic arbors disrupt proper circuit connectivity, which in turn could contribute to neurodegenerative disease...
November 15, 2017: Scientific Reports
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