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Amyotrophic lateral sclerosis

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https://www.readbyqxmd.com/read/28430856/a-comprehensive-analysis-of-rare-genetic-variation-in-amyotrophic-lateral-sclerosis-in-the-uk
#1
Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley R Jones, Maryam Shoai, Deborah Hughes, Ahmad Al Khleifat, Andrea Malaspina, Karen E Morrison, Pamela J Shaw, Christopher E Shaw, Katie Sidle, Richard W Orrell, Pietro Fratta, John Hardy, Alan Pittman, Ammar Al-Chalabi
Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of patients were predicted to carry a pathological expansion of the C9orf72 gene. We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2...
April 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28429524/the-investigation-of-genetic-and-clinical-features-in-chinese-patients-with-juvenile-amyotrophic-lateral-sclerosis
#2
Z-J Liu, H-X Lin, G-L Liu, Q-Q Tao, W Ni, B-G Xiao, Z-Y Wu
Juvenile amyotrophic lateral sclerosis (JALS) occurs at an age of onset below 25 years with a heterogeneous disease onset location, variable progression and survival time. To investigate whether an ALS gene profile could resolve any aspects of clinical symptom heterogeneity, we have used targeted sequencing technology in a cohort of 12 JALS patients of Chinese descent. We detected 5 likely pathogenic mutations, 2 in familial probands and 3 in sporadic patients. One was a known TARDBP mutation (p.G348V) and 4 were FUS frameshift mutations including a known p...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28429234/neuron-to-neuron-transfer-of-fus-in-drosophila-primary-neuronal-culture-is-enhanced-by-als-associated-mutations
#3
Sébastien Feuillette, Morgane Delarue, Gaëtan Riou, Anne-Lise Gaffuri, Jane Wu, Zsolt Lenkei, Olivier Boyer, Thierry Frébourg, Dominique Campion, Magalie Lecourtois
The DNA- and RNA-binding protein fused in sarcoma (FUS) has been pathologically and genetically linked to amyotrophic lateral sclerosis (ALS) or frontotemporal lobar degeneration (FTLD). Cytoplasmic FUS-positive inclusions were identified in the brain and spinal cord of a subset of patients suffering with ALS/FTLD. An increasing number of reports suggest that FUS protein can behave in a prion-like manner. However, no neuropathological studies or experimental data were available regarding cell-to-cell spread of these pathological protein assemblies...
April 20, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28428907/palliative-care-in-huntington-disease-personal-reflections-and-a-review-of-the-literature
#4
REVIEW
Christopher G Tarolli, Amy M Chesire, Kevin M Biglan
BACKGROUND: Huntington disease is a fatal, autosomal dominant, neurodegenerative disorder manifest by the triad of a movement disorder, behavioral disturbances, and dementia. At present, no curative or disease modifying therapies exist for the condition and current treatments are symptomatic. Palliative care is an approach to care that focuses on symptom relief, patient and caregiver support, and end of life care. There is increasing evidence of the benefit of palliative care throughout the course of neurodegenerative conditions including Parkinson disease and amyotrophic lateral sclerosis...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28428745/decreased-levels-of-foldase-and-chaperone-proteins-are-associated-with-an-early-onset-amyotrophic-lateral-sclerosis
#5
Melania Filareti, Silvia Luotti, Laura Pasetto, Mauro Pignataro, Katia Paolella, Paolo Messina, Elisabetta Pupillo, Massimiliano Filosto, Christian Lunetta, Jessica Mandrioli, Giuseppe Fuda, Andrea Calvo, Adriano Chiò, Massimo Corbo, Caterina Bendotti, Ettore Beghi, Valentina Bonetto
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by a progressive upper and lower motor neuron degeneration. One of the peculiar clinical characteristics of ALS is the wide distribution in age of onset, which is probably caused by different combinations of intrinsic and exogenous factors. We investigated whether these modifying factors are converging into common pathogenic pathways leading either to an early or a late disease onset. This would imply the identification of phenotypic biomarkers, that can distinguish the two populations of ALS patients, and of relevant pathways to consider in a therapeutic intervention...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28427895/changing-cortical-inhibition-in-the-course-of-amyotrophic-lateral-sclerosis
#6
EDITORIAL
Michael Swash
No abstract text is available yet for this article.
March 28, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28427413/adiponectin-levels-in-the-serum-and-cerebrospinal-fluid-of-amyotrophic-lateral-sclerosis-patients-possible-influence-on-neuroinflammation
#7
Patrizia Bossolasco, Raffaella Cancello, Alberto Doretti, Claudia Morelli, Vincenzo Silani, Lidia Cova
BACKGROUND: Adiponectin (APN) is a key player in energy homeostasis strictly associated with cerebrovascular and neurodegenerative diseases. Since APN also belongs to anti-inflammatory-acting adipokines and may influence both neuroinflammation and neurodegenerative processes, we decided to study the APN levels in amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases. METHODS: We assessed APN levels by ELISA immunoassay in both the serum and cerebrospinal fluid of a cohort of familial and sporadic ALS patients, characterized by normal body mass index and absence of dysautonomic symptoms...
April 20, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28425762/the-evaluation-of-bulbar-dysfunction-in-amyotrophic-lateral-sclerosis-survey-of-clinical-practice-patterns-in-the-united-states
#8
Emily K Plowman, Lauren C Tabor, James Wymer, Gary Pattee
OBJECTIVE: Speech and swallowing impairments are highly prevalent in individuals with amyotrophic lateral sclerosis (ALS) and contribute to reduced quality of life, malnutrition, aspiration, pneumonia and death. Established practice parameters for bulbar dysfunction in ALS do not currently exist. The aim of this study was to identify current practice patterns for the evaluation of speech and swallowing function within participating Northeast ALS clinics in the United States. METHODS AND RESULTS: A 15-item survey was emailed to all registered NEALS centres...
April 20, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28425061/gray-matter-and-white-matter-changes-in-non-demented-amyotrophic-lateral-sclerosis-patients-with-or-without-cognitive-impairment-a-combined-voxel-based-morphometry-and-tract-based-spatial-statistics-whole-brain-analysis
#9
Foteini Christidi, Efstratios Karavasilis, Franz Riederer, Ioannis Zalonis, Panagiotis Ferentinos, Georgios Velonakis, Sophia Xirou, Michalis Rentzos, Georgios Argiropoulos, Vasiliki Zouvelou, Thomas Zambelis, Athanasios Athanasakos, Panagiotis Toulas, Konstantinos Vadikolias, Efstathios Efstathopoulos, Spyros Kollias, Nikolaos Karandreas, Nikolaos Kelekis, Ioannis Evdokimidis
The phenotypic heterogeneity in amyotrophic lateral sclerosis (ALS) implies that patients show structural changes within but also beyond the motor cortex and corticospinal tract and furthermore outside the frontal lobes, even if frank dementia is not detected. The aim of the present study was to investigate both gray matter (GM) and white matter (WM) changes in non-demented amyotrophic lateral sclerosis (ALS) patients with or without cognitive impairment (ALS-motor and ALS-plus, respectively). Nineteen ALS-motor, 31 ALS-plus and 25 healthy controls (HC) underwent 3D-T1-weighted and 30-directional diffusion-weighted imaging on a 3 T MRI scanner...
April 19, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28424896/maximum-tongue-pressure-is-associated-with-swallowing-dysfunction-in-als-patients
#10
Aya Hiraoka, Mineka Yoshikawa, Masahiro Nakamori, Naohisa Hosomi, Toshikazu Nagasaki, Takahiro Mori, Masaya Oda, Hirofumi Maruyama, Mitsuyoshi Yoshida, Yuishin Izumi, Masayasu Matsumoto, Kazuhiro Tsuga
Maximum tongue pressure (MTP) measurement is a convenient, less invasive assessment that has been developed to quantify tongue strength; however, it is unclear whether MTP is useful for the detection of swallowing disorders in amyotrophic lateral sclerosis (ALS) patients. The purpose of this study was to clarify the relationship between MTP and the characteristics of swallowing disorders on videofluorography and to determine the usefulness of tongue pressure measurement for the assessment of swallowing function in ALS patients...
April 19, 2017: Dysphagia
https://www.readbyqxmd.com/read/28424594/overexpression-of-human-sod1-leads-to-discrete-defects-in-the-cerebellar-architecture-in-the-mouse
#11
Pegah Afshar, Niloufar Ashtari, Xiaodan Jiao, Maryam Rahimi-Balaei, Xiaosha Zhang, Behzad Yaganeh, Marc R Del Bigio, Jiming Kong, Hassan Marzban
The human superoxide dismutase 1 (SOD1) gene is responsible for neutralizing supercharged oxygen radicals within the cell. Mutation in SOD1 gene causes amyotrophic lateral sclerosis (ALS). Recent studies have shown involvement of the cerebellum in ALS, although the cerebellar contribution in SOD1 transgenic mice remains unclear. Using immunohistopathology, we investigated the Purkinje cell phenotype in the vermis of the SOD1 transgenic mice cerebellum. Calbindin 1 (Calb1) and three well-known zone and stripe markers, zebrin II, HSP25, and PLCβ4 have been used to explore possible alteration in zone and stripe...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28424484/the-tandem-agenet-domain-of-fragile-x-mental-retardation-protein-interacts-with-fus
#12
Qingzhong He, Wei Ge
The tandem Agenet domain (TAD) of fragile X mental retardation protein (FMRP) protein is considered to be a member of the methyl-lysine-binding Tudor domain "Royal family". Several groups have reported that the TAD binds with methylated histones and plays a role in DNA damage responses. FMRP is a RNA-binding protein predominantly resident in cytoplasm. Therefore, in this study, we identified DDX5, FUS, EWSR1 and LSM14A as TAD-interacting proteins sensitive to F32L and/or Y96L mutation by pull-down assays and mass spectrometry...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28422627/quality-of-life-perspectives-of-people-with-amyotrophic-lateral-sclerosis-and-their-caregivers
#13
Stephanie Johnson, Bryant Alonso, Katie Faulkner, Haley Roberts, Britton Monroe, Leigh Lehman, Pamalyn Kearney
This study explored differences in perspectives on quality of life (QOL) between people affected by amyotrophic lateral sclerosis (ALS) and their caregivers. QOL is often thought of as related to physical limitations, without consideration of other factors (e.g., cognitive, emotional) that may be stronger predictors of QOL in people with long-term degenerative diseases. Because QOL is complex and influenced by multiple factors, people with ALS and their caregivers may have different perspectives on what constitutes QOL...
May 2017: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/28422121/a-decrease-in-blood-cholesterol-after-gastrostomy-could-impact-survival-in-als
#14
H Blasco, F Patin, S Molinier, P Vourc'h, O Le Tilly, S Bakkouche, C R Andres, V Meininger, P Couratier, P Corcia
Although the global benefits of gastrostomy have been proven in amyotrophic lateral sclerosis (ALS), the impact on biological parameters has not been explored yet. The aim of this preliminary work was to evaluate the modification of biological parameters in patients with ALS undergoing gastrostomy. We retrospectively collected clinical and biological data from 44 patients having undergone gastrostomy at three time points (T0, T1 and T2: before, at the time of and after gastrostomy). We examined the relationship between the biological parameters and disease progression...
April 19, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28421535/microrna-metabolism-and-dysregulation-in-amyotrophic-lateral-sclerosis
#15
REVIEW
Paola Rinchetti, Mafalda Rizzuti, Irene Faravelli, Stefania Corti
MicroRNAs (miRNAs) are a subset of endogenous, small, non-coding RNA molecules involved in the post-transcriptional regulation of eukaryotic gene expression. Dysregulation in miRNA-related pathways in the central nervous system (CNS) is associated with severe neuronal injury and cell death, which can lead to the development of neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS). ALS is a fatal adult onset disease characterized by the selective loss of upper and lower motor neurons. While the pathogenesis of ALS is still largely unknown, familial ALS forms linked to TAR DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) gene mutations, as well as sporadic forms, display changes in several steps of RNA metabolism, including miRNA processing...
April 18, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28421431/detection-of-autoantibodies-to-potentially-amyloidogenic-protein-gamma-synuclein-in-the-serum-of-patients-with-amyotrophic-lateral-sclerosis-and-cerebral-circulatory-disorders
#16
A Yu Roman, E A Kovrazhkina, O D Razinskaya, M S Kukharsky, A V Maltsev, R K Ovchinnikov, O A Lytkina, A P Smirnov, A A Moskovtsev, Yu V Borodina, A P Surguchov, A A Ustyugov, N N Ninkina, V I Skvortsova
In this study, we analyzed serum for the presence of antibodies to gamma-synuclein in patients with amyotrophic lateral sclerosis (ALS) compared to the control group of patients with other neurological diseases and healthy control donors. As a result, antibodies against gamma-synuclein are not an ALS-specific feature and have been identified in patients with ALS as well as in the control group patients. Patients with the impaired cerebral circulation showed increased incidence of autoantibodies to gamma-synuclein, yet the difference lacks statistical representativeness due to limited sample size...
January 2017: Doklady. Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28421301/multiple-sclerosis-and-amyotrophic-lateral-sclerosis-a-human-leukocyte-antigen-challenge
#17
Vincenzo Dattola, Fausto Famà, Margherita Russo, Rocco Salvatore Calabrò, Anna Lisa Logiudice, Maria Grazia Grasso, Francesco Patti, Maria Buccafusca
Multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) are two different central nervous system pathology that, according to the most accredited hypotheses, recognize a different etiopathogenesis. The simultaneous occurrence of MS and ALS is quite unusual. To our knowledge, only three cases have been so far described by clinical, laboratory, and post-mortem studies. We report four new cases of this peculiar combination that have been observed and are herein described, included their human leukocyte antigen (HLA) profile studies...
April 18, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28420986/modulation-of-microglial-activity-by-rho-kinase-rock-inhibition-as-therapeutic-strategy-in-parkinson-s-disease-and-amyotrophic-lateral-sclerosis
#18
REVIEW
Anna-Elisa Roser, Lars Tönges, Paul Lingor
Neurodegenerative diseases are characterized by the progressive degeneration of neurons in the central and peripheral nervous system (CNS, PNS), resulting in a reduced innervation of target structures and a loss of function. A shared characteristic of many neurodegenerative diseases is the infiltration of microglial cells into affected brain regions. During early disease stages microglial cells often display a rather neuroprotective phenotype, but switch to a more pro-inflammatory neurotoxic phenotype in later stages of the disease, contributing to the neurodegeneration...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28420962/dysregulation-of-rna-binding-protein-aggregation-in-neurodegenerative-disorders
#19
REVIEW
Brandon Maziuk, Heather I Ballance, Benjamin Wolozin
The unique biology of RNA binding proteins is altering our view of the genesis of protein misfolding diseases. These proteins use aggregation of low complexity domains (LCDs) as a means to regulate the localization and utilization of RNA by forming RNA granules, such as stress granules, transport granules and P-bodies. The reliance on reversible aggregation as a mechanism for biological regulation renders this family of proteins highly vulnerable to promoting diseases of protein misfolding. Mutations in RNA binding proteins are associated with many neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD)...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28420437/bidirectional-nucleolar-dysfunction-in-c9orf72-frontotemporal-lobar-degeneration
#20
Sarah Mizielinska, Charlotte E Ridler, Rubika Balendra, Annora Thoeng, Nathan S Woodling, Friedrich A Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M Isaacs
An intronic GGGGCC expansion in C9orf72 is the most common known cause of both frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat expansion leads to the generation of sense and antisense repeat RNA aggregates and dipeptide repeat (DPR) proteins, generated by repeat-associated non-ATG translation. The arginine-rich DPR proteins poly(glycine-arginine or GR) and poly(proline-arginine or PR) are potently neurotoxic and can localise to the nucleolus when expressed in cells, resulting in enlarged nucleoli with disrupted functionality...
April 18, 2017: Acta Neuropathologica Communications
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