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https://www.readbyqxmd.com/read/27906525/the-clinical-utility-of-qsm-disease-diagnosis-medical-management-and-surgical-planning
#1
REVIEW
Sarah Eskreis-Winkler, Yan Zhang, Jingwei Zhang, Zhe Liu, Alexey Dimov, Ajay Gupta, Yi Wang
Quantitative susceptibility mapping (QSM) is an MR technique that depicts and quantifies magnetic susceptibility sources. Mapping iron, the dominant susceptibility source in the brain, has many important clinical applications. Herein, we review QSM applications in the diagnosis, medical management, and surgical treatment of disease. To assist in early disease diagnosis, QSM can identify elevated iron levels in the motor cortex of amyotrophic lateral sclerosis patients, in the substantia nigra of Parkinson's disease (PD) patients, in the globus pallidus, putamen, and caudate of Huntington's disease patients, and in the basal ganglia of Wilson's disease patients...
December 1, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/27906103/progressive-impairment-of-cav1-1-function-in-the-skeletal-muscle-of-mice-expressing-a-mutant-type-1-cu-zn-superoxide-dismutase-g93a-linked-to-amyotrophic-lateral-sclerosis
#2
Donald Beqollari, Christin F Romberg, Gabriella Dobrowolny, Martina Martini, Andrew A Voss, Antonio Musarò, Roger A Bannister
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder that is typically fatal within 3-5 years of diagnosis. While motoneuron death is the defining characteristic of ALS, the events that underlie its pathology are not restricted to the nervous system. In this regard, ALS muscle atrophies and weakens significantly before presentation of neurological symptoms. Since the skeletal muscle L-type Ca(2+) channel (CaV1.1) is a key regulator of both mass and force, we investigated whether CaV1...
June 23, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27906081/vacht-overexpression-increases-acetylcholine-at-the-synaptic-cleft-and-accelerates-aging-of-neuromuscular-junctions
#3
Satoshi Sugita, Leland L Fleming, Caleb Wood, Sydney K Vaughan, Matheus P S M Gomes, Wallace Camargo, Ligia A Naves, Vania F Prado, Marco A M Prado, Cristina Guatimosim, Gregorio Valdez
BACKGROUND: Cholinergic dysfunction occurs during aging and in a variety of diseases, including amyotrophic lateral sclerosis (ALS). However, it remains unknown whether changes in cholinergic transmission contributes to age- and disease-related degeneration of the motor system. Here we investigated the effect of moderately increasing levels of synaptic acetylcholine (ACh) on the neuromuscular junction (NMJ), muscle fibers, and motor neurons during development and aging and in a mouse model for amyotrophic lateral sclerosis (ALS)...
October 5, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27904119/an-autopsy-case-of-amyotrophic-lateral-sclerosis-with-diaphragm-pacing
#4
Hisashi Ito, Tetsumasa Kamei, Sanae Odake, Masayuki Nakano, Riki Okeda, Shunsaku Kohriki, Jun Kawachi, Raymond P Onders, Fumihito Yoshii
Respiratory insufficiency is a critical problem in amyotrophic lateral sclerosis (ALS) patients. We herein present the case of an autopsied patient with sporadic ALS who underwent diaphragm pacing (DP). The pathology showed several localized adhesions with a markedly atrophied diaphragm. A marked loss of motor neurons with Bunina bodies and phosphorylated TDP-43 positive inclusions was found in the spinal cord and primary motor cortex. Mild hyalinization and a few multinucleated giant cells were present around the electrode tracks in the diaphragm...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27903442/are-micrornas-true-sensors-of-ageing-and-cellular-senescence
#5
REVIEW
Justin Williams, Flint Smith, Subodh Kumar, Murali Vijayan, P Hemachandra Reddy
All living beings are programmed to death due to aging and age-related processes. Aging is a normal process of every living species. While all cells are inevitably progressing towards death, many disease processes accelerate the aging process, leading to senescence. Pathologies such as Alzheimer's disease, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis, Huntington's disease, cardiovascular disease, cancer, and skin diseases have been associated with deregulated aging. Healthy aging can delay onset of all age-related diseases...
November 26, 2016: Ageing Research Reviews
https://www.readbyqxmd.com/read/27902929/necroptosis-in-amyotrophic-lateral-sclerosis-and-other-neurological-disorders
#6
REVIEW
Jessica R Morrice, Cheryl Y Gregory-Evans, Christopher A Shaw
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the progressive degeneration of upper and lower motor neurons. Cell death in ALS and in general was previously believed to exist as a dichotomy between apoptosis and necrosis. Most research investigating cell death mechanisms in ALS was conducted before the discovery of programmed necrosis thus did not use selective cell death pathway-specific markers. Recently, a new form of programmed cell death, termed "necroptosis", has been characterized and has been recently implicated in ALS as a primary mechanism driving motor neuron cell death in different forms of ALS...
November 27, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27901255/assessment-and-nutrition-education-in-patients-with-amyotrophic-lateral-sclerosis
#7
Claudinéa S Almeida, Patricia Stanich, Cristina C S Salvioni, Solange Diccini
Neurological patients with amyotrophic lateral sclerosis (ALS)often deteriorate to a worsening nutritional status. The aim of this study was to compare the nutritional status and food intake after nutrition education in patients with ALS. Clinical, anthropometric and functional variables were analyzed. Fifty-three patients were monitored at an early stage of the disease. The average score on the functionality scale was 33 points. Initially only 3.8% were classified as low body weight. After three months, 50% showed significant variation in anthropometric measures related to muscle mass and body fat reserves without association with clinical variables...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27900991/increased-expressions-of-plasma-galectin-3-in-patients-with-amyotrophic-lateral-sclerosis
#8
Jun Yan, Yun Xu, Li Zhang, Hui Zhao, Ling Jin, Wei-Guo Liu, Lei-Hua Weng, Zuo-Han Li, Ling Chen
BACKGROUND: High expressions of galectin-3 were identified recently in the end stage of amyotrophic lateral sclerosis (ALS) patients, which suggested that immune reactivity and inflammatory mechanisms might play an important role in the pathogenesis of ALS. The purpose of this study was to investigate plasma galectin-3 levels in different groups and stages of ALS patients and the association with related clinical characteristics. METHODS: A total of 51 patients with ALS and 60 normal controls (NCs) were recruited in this study...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27900731/the-validity-and-reliability-of-the-korean-version-of-the-stigma-scale-for-chronic-illness-8-items-ssci-8-in-patients-with-neurological-disorders
#9
Sung-Hee Yoo, Sung Reul Kim, Hyang Sook So, Hyang-In Cho Chung, Duck Hee Chae, Myeong-Kyu Kim, Byeong C Kim, Man-Seok Park, Seung-Han Lee, Tai-Seung Nam, Helena Correia, David Cella
PURPOSE: The aim of this study was to develop a Korean version of the Stigma Scale for Chronic Illness 8-items (SSCI-8) and then assess its reliability and construct validity among patients with neurological conditions. METHOD: Patients diagnosed with stroke, Parkinson's disease, epilepsy, multiple sclerosis, myasthenia gravis, and amyotrophic lateral sclerosis were recruited. Reliability was assessed for internal consistency with Cronbach's alpha coefficient. Exploratory factor analysis (EFA) was used to extract potential factors of Korean SSCI-8...
November 29, 2016: International Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/27898262/characterization-of-genetic-loss-of-function-of-fus-in-zebrafish
#10
Svetlana Lebedeva, António M de Jesus Domingues, Falk Butter, René F Ketting
The RNA-binding protein FUS is implicated in transcription, alternative splicing of neuronal genes and DNA repair. Mutations in FUS have been linked to human neurodegenerative diseases such as ALS (amyotrophic lateral sclerosis). We genetically disrupted fus in zebrafish (Danio rerio) using the CRISPR-Cas9 system. The fus knockout animals are fertile and did not show any distinctive phenotype. Mutation of fus induces mild changes in gene expression on the transcriptome and proteome level in the adult brain...
November 29, 2016: RNA Biology
https://www.readbyqxmd.com/read/27898033/towards-clinical-application-of-neurotrophic-factors-to-the-auditory-nerve-assessment-of-safety-and-efficacy-by-a-systematic-review-of-neurotrophic-treatments-in-humans
#11
REVIEW
Aren Bezdjian, Véronique J C Kraaijenga, Dyan Ramekers, Huib Versnel, Hans G X M Thomeer, Sjaak F L Klis, Wilko Grolman
Animal studies have evidenced protection of the auditory nerve by exogenous neurotrophic factors. In order to assess clinical applicability of neurotrophic treatment of the auditory nerve, the safety and efficacy of neurotrophic therapies in various human disorders were systematically reviewed. Outcomes of our literature search included disorder, neurotrophic factor, administration route, therapeutic outcome, and adverse event. From 2103 articles retrieved, 20 randomized controlled trials including 3974 patients were selected...
November 26, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27897242/cortical-synaptic-and-dendritic-spine-abnormalities-in-a-presymptomatic-tdp-43-model-of-amyotrophic-lateral-sclerosis
#12
Matthew J Fogarty, Paul M Klenowski, John D Lee, Joy R Drieberg-Thompson, Selena E Bartlett, Shyuan T Ngo, Massimo A Hilliard, Mark C Bellingham, Peter G Noakes
Layer V pyramidal neurons (LVPNs) within the motor cortex integrate sensory cues and co-ordinate voluntary control of motor output. In amyotrophic lateral sclerosis (ALS) LVPNs and spinal motor neurons degenerate. The pathogenesis of neural degeneration is unknown in ALS; 10% of cases have a genetic cause, whereas 90% are sporadic, with most of the latter showing TDP-43 inclusions. Clinical and experimental evidence implicate excitotoxicity as a prime aetiological candidate. Using patch clamp and dye-filling techniques in brain slices, combined with high-resolution confocal microscopy, we report increased excitatory synaptic inputs and dendritic spine densities in early presymptomatic mice carrying a TDP-43(Q331K) mutation...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27894201/screening-for-cognitive-dysfunction-in-als-validation-of-the-edinburgh-cognitive-and-behavioural-als-screen-ecas-using-age-and-education-adjusted-normative-data
#13
Marta Pinto-Grau, Tom Burke, Katie Lonergan, Caroline McHugh, Iain Mays, Caoifa Madden, Alice Vajda, Mark Heverin, Marwa Elamin, Orla Hardiman, Niall Pender
BACKGROUND: Cognitive and behavioural changes are an important aspect in Amyotrophic Lateral Sclerosis (ALS). The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) briefly assesses these changes in ALS. OBJECTIVE: To validate the ECAS against a standardised neuropsychological battery and assess its sensitivity and specificity using age and education adjusted cut-off scores. METHOD: 30 incident ALS cases were assessed on both, ECAS and neuropsychological battery...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27894191/identifying-behavioural-changes-in-als-validation-of-the-beaumont-behavioural-inventory-bbi
#14
Marwa Elamin, Marta Pinto-Grau, Tom Burke, Peter Bede, James Rooney, Meabhdh O'Sullivan, Katie Lonergan, Emma Kirby, Emma Quinlan, Nadia Breen, Alice Vajda, Mark Heverin, Niall Pender, Orla Hardiman
OBJECTIVE: Behavioural changes are an important part of amyotrophic lateral sclerosis (ALS). However, most tools do not account for the influence of motor impairment. Furthermore, they do not fully measure the broad range of behavioural changes specific to ALS. This study aimed to develop and validate an ALS specific behavioural inventory, the Beaumont Behavioural Inventory (BBI). METHODS: The BBI was validated in a cohort of ALS patients (n = 85) and 78 age-, gender-, and education-matched controls...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27893489/military-service-and-amyotrophic-lateral-sclerosis-in-a-population-based-cohort-extended-follow-up-1979-2011
#15
Jacquelyn J Cragg, Norman J Johnson, Marc G Weisskopf
No abstract text is available yet for this article.
November 22, 2016: Epidemiology
https://www.readbyqxmd.com/read/27893008/use-of-genetic-testing-in-amyotrophic-lateral-sclerosis-by-neurologists
#16
Karissa C Arthur, Carly Doyle, Adriano Chiò, Bryan J Traynor
No abstract text is available yet for this article.
November 21, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27892983/association-of-mutations-in-tbk1-with-sporadic-and-familial-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#17
Axel Freischmidt, Kathrin Müller, Albert C Ludolph, Jochen H Weishaupt, Peter M Andersen
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative syndromes that occur sporadically or have been associated with mostly dominant inheritance of mutations in more than 30 genes. A critical issue is whether all reported mutations are disease causing or are coincidental findings. In this review we analyze the pathogenicity of nonsynonymous variants in the newly discovered gene encoding TANK-binding kinase 1 (TBK1). The available data suggest that mutations in TBK1 that cause a 50% reduction of TBK1 protein levels are pathogenic...
November 21, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27892707/is-firstly-diagnosed-als-really-als-results-of-a-population-based-study-with-long-term-follow-up
#18
Elisabetta Pupillo, Elisa Bianchi, Marco Poloni, Ettore Beghi
OBJECTIVE: To revise the first diagnosis of amyotrophic lateral sclerosis (ALS) in patients from a well-defined population. METHODS: Patients diagnosed with ALS in the years 1998-2002 and resident of Lombardy Region, Northern Italy were followed until death or April 30 2016 to assess long-term survival. During follow-up, the caring neurologists were asked to confirm the first diagnosis. Revised diagnoses were classified as confirmed and unconfirmed motor neuron disease (MND) with further specification where available...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27892703/the-measurement-and-estimation-of-total-energy-expenditure-in-japanese-patients-with-als-a-doubly-labelled-water-method-study
#19
Toshio Shimizu, Kazuko Ishikawa-Takata, Akiko Sakata, Utako Nagaoka, Noriko Ichihara, Chiho Ishida, Yuki Nakayama, Tetsuo Komori, Masatoyo Nishizawa
Appropriate nutritional therapy has not been established for patients with amyotrophic lateral sclerosis (ALS). Our objective was to measure the total energy expenditure (TEE) and determine an equation to estimate the energy requirements for Japanese patients with ALS. Twenty-six Japanese patients with ALS participated in the study. The TEE was measured using the doubly labelled water (DLW) method for a 14-day period. Using a range of clinical parameters and multiple regression analyses, we determined an adequate equation to calculate TEE...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27892702/slowly-progressive-motor-neuron-disease-with-multi-system-involvement-related-to-p-e121g-sod1-mutation
#20
Guillaume Taieb, Anne Polge, Raul Juntas-Morales, Nicolas Pageot, Serge Lumbroso, Kevin Mouzat, William Camu
We report the third case of amyotrophic lateral sclerosis related to p.E121G Superoxide dismutase-1 (SOD1) mutation. Besides a sporadic presentation and a slow progressive course, as described in the 2 previously cases, our patient presented with prominent sensory and cerebellar signs. This case report strengthens that p.E121G should be considered as a causal mutation. Slowly upper and lower motor neuron degeneration, even with non-motor clinical features, should prompt a sequencing of SOD1.
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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