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https://www.readbyqxmd.com/read/28544463/axonal-charcot-marie-tooth-neuropathy-concurrent-with-distal-and-proximal-weakness-by-translational-elongation-of-the-3-utr-in-nefh
#1
Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song-Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' UTR. This study also identified a de novo c...
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28533943/etiology-and-treatment-of-amyotrophic-lateral-sclerosis
#2
Hernando Rafael, Juan Oscar David, Antonio Santiago Vilca
BACKGROUND: To date all researchers conclude that the etiology of Amyotrophic lateral sclerosis (ALS) is not known. On the contrary, since August 2009, we believe that disease is of ischemic origin in the anterior surface of the medulla oblongata. MATERIAL AND METHOD: We present our surgical experience into 45 patients with ALS (bulbar form in 36 cases and spinal form in 9). Preoperative MRI scans revealed microinfarcts in the medulla oblongata and/or cervical cord...
2017: American Journal of Neurodegenerative Disease
https://www.readbyqxmd.com/read/28529876/pathology-of-callosal-damage-in-als-an-ex-vivo-7%C3%A2-t-diffusion-tensor-mri-study
#3
Agustin M Cardenas, Joelle E Sarlls, Justin Y Kwan, Devin Bageac, Zachary S Gala, Laura E Danielian, Abhik Ray-Chaudhury, Hao-Wei Wang, Karla L Miller, Sean Foxley, Saad Jbabdi, Robert C Welsh, Mary Kay Floeter
OBJECTIVES: The goal of this study was to better understand the changes in tissue microstructure that underlie white matter diffusion changes in ALS patients. METHODS: Diffusion tensor imaging was carried out in postmortem brains of 4 ALS patients and two subjects without neurological disease on a 7 T MRI scanner using steady-state free precession sequences. Fractional anisotropy (FA) was measured in the genu, body, and splenium of the corpus callosum in formalin-fixed hemispheres...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28501822/structural-mri-correlates-of-amyotrophic-lateral-sclerosis-progression
#4
Joe Senda, Naoki Atsuta, Hirohisa Watanabe, Epifanio Bagarinao, Kazunori Imai, Daichi Yokoi, Yuichi Riku, Michihito Masuda, Ryoichi Nakamura, Hazuki Watanabe, Mizuki Ito, Masahisa Katsuno, Shinji Naganawa, Gen Sobue
PURPOSE: Amyotrophic lateral sclerosis (ALS) presents with varying degrees of brain degeneration that can extend beyond the corticospinal tract (CST). Furthermore, the clinical course and progression of ALS varies widely. Brain degeneration detected using structural MRI could reflect disease progression. SUBJECTS AND METHODS: On study registration, 3-Tesla volumetric MRI and diffusion tensor imaging scans were obtained at baseline in 38 healthy controls and 67 patients with sporadic ALS...
May 13, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28498852/ultra-high-field-7tesla-magnetic-resonance-spectroscopy-in-amyotrophic-lateral-sclerosis
#5
Nazem Atassi, Maosheng Xu, Christina Triantafyllou, Boris Keil, Robert Lawson, Paul Cernasov, Elena Ratti, Christopher J Long, Sabrina Paganoni, Alyssa Murphy, Nouha Salibi, Ravi Seethamraju, Bruce Rosen, Eva-Maria Ratai
The main objective of this study was to utilize high field (7T) in vivo proton magnetic resonance imaging to increase the ability to detect metabolite changes in people with ALS, specifically, to quantify levels of glutamine and glutamine separately. The second objective of this study was to correlate metabolic markers with clinical outcomes of disease progression. 13 ALS participants and 12 age-matched healthy controls (HC) underwent 7 Tesla MRI and MRS. Single voxel MR spectra were acquired from the left precentral gyrus using a very short echo time (TE = 5 ms) STEAM sequence...
2017: PloS One
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
#6
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/28412941/survival-prediction-in-amyotrophic-lateral-sclerosis-based-on-mri-measures-and-clinical-characteristics
#7
Christina Schuster, Orla Hardiman, Peter Bede
BACKGROUND: Amyotrophic lateral sclerosis (ALS) a highly heterogeneous neurodegenerative condition. Accurate diagnostic, monitoring and prognostic biomarkers are urgently needed both for individualised patient care and clinical trials. A multimodal magnetic resonance imaging study is presented, where MRI measures of ALS-associated brain regions are utilised to predict 18-month survival. METHODS: A total of 60 ALS patients and 69 healthy controls were included in this study...
April 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28364332/repetitive-nerve-stimulation-as-a-diagnostic-aid-for-distinguishing-cervical-spondylotic-amyotrophy-from-amyotrophic-lateral-sclerosis
#8
Chaojun Zheng, Xiang Jin, Yu Zhu, Feizhou Lu, Jianyuan Jiang, Xinlei Xia
PURPOSE: To identify and compare the features of compound muscle action potential (CMAP) decrements in repetitive nerve stimulation (RNS) in patients with cervical spondylotic amyotrophy (CSA) and in patients with amyotrophic lateral sclerosis (ALS). METHODS: The cohort consisted of 43 CSA (distal-type to proximal-type ratio: 27-16) and 35 ALS patients. Five muscles, including abductor pollicis brevis (APB), abductor digiti minimi (ADM), biceps brachii (BB), middle deltoid (Del), and upper trapezius (Trap), were tested by 3-Hz RNS...
March 31, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28351750/a-longitudinal-dti-and-histological-study-of-the-spinal-cord-reveals-early-pathological-alterations-in-g93a-sod1-mouse-model-of-amyotrophic-lateral-sclerosis
#9
Stefania Marcuzzo, Silvia Bonanno, Matteo Figini, Alessandro Scotti, Ileana Zucca, Ludovico Minati, Nilo Riva, Teuta Domi, Andrea Fossaghi, Angelo Quattrini, Barbara Galbardi, Sara D'Alessandro, Maria Grazia Bruzzone, José Manuel García-Verdugo, Victoria Moreno-Manzano, Renato Mantegazza, Pia Bernasconi
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective motor neuron degeneration in the motor cortex, brainstem and spinal cord. It is generally accepted that ALS is caused by death of motor neurons, however the exact temporal cascade of degenerative processes is not yet completely known. To identify the early pathological changes in spinal cord of G93A-SOD1 ALS mice we performed a comprehensive longitudinal analysis employing diffusion-tensor magnetic resonance imaging alongside histology and electron microscopy, in parallel with peripheral nerve histology...
March 27, 2017: Experimental Neurology
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
#10
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
#11
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/28274264/a-unique-pattern-of-cortical-connectivity-characterizes-patients-with-attention-deficit-disorders-a-large-electroencephalographic-coherence-study
#12
Frank H Duffy, Aditi Shankardass, Gloria B McAnulty, Heidelise Als
BACKGROUND: Attentional disorders (ADD) feature decreased attention span, impulsivity, and over-activity interfering with successful lives. Childhood onset ADD frequently persists to adulthood. Etiology may be hereditary or disease associated. Prevalence is 5% but recognition may be 'overshadowed' by comorbidities (brain injury, mood disorder) thereby escaping formal recognition. Blinded diagnosis by MRI has failed. ADD may not itself manifest a single anatomical pattern of brain abnormality but may reflect multiple, unique responses to numerous and diverse etiologies...
March 9, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28266002/voxel-based-mapping-of-grey-matter-volume-and-glucose-metabolism-profiles-in-amyotrophic-lateral-sclerosis
#13
M-S Buhour, F Doidy, A Mondou, A Pélerin, L Carluer, F Eustache, F Viader, B Desgranges
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disease of the nervous system involving both upper and lower motor neurons. The patterns of structural and metabolic brain alterations are still unclear. Several studies using anatomical MRI yielded a number of discrepancies in their results, and a few PET studies investigated the effect of ALS on cerebral glucose metabolism. The aim of this study was threefold: to highlight the patterns of grey matter (GM) atrophy, hypometabolism and hypermetabolism in patients with ALS, then to understand the neurobehavioral significance of hypermetabolism and, finally, to investigate the regional differences between the morphologic and functional changes in ALS patients, using a specially designed voxel-based method...
December 2017: EJNMMI Research
https://www.readbyqxmd.com/read/28248783/amyotrophic-lateral-sclerosis-what-nurses-need-to-know
#14
Tamara L Bellomo, Lucille Cichminski
A MOTHER OF THREE teenage children, Mrs. S, 49, presented to her healthcare provider with bilateral leg twitching and weakness, difficulty swallowing, and fatigue that's worsened over the past few weeks. While she was on her daily morning walk, she tripped and fell. She experienced a small laceration to her leg, prompting her visit to the healthcare facility. Her husband said that she'd had periods of slurred speech over the past few months as well. She was alert and oriented, and her vital signs were all within normal limits...
March 2017: Home Healthcare Now
https://www.readbyqxmd.com/read/28231395/functional-connectivity-in-amygdalar-sensory-pre-motor-networks-at-rest-new-evidence-from-the-human-connectome-project
#15
Nicola Toschi, Andrea Duggento, Luca Passamonti
The word 'e-motion' derives from the Latin word 'ex-moveo' which literally means 'moving away from something/somebody'. Emotions are thus fundamental to prime action and goal-directed behavior with obvious implications for individual's survival. However, the brain mechanisms underlying the interactions between emotional and motor cortical systems remain poorly understood. A recent diffusion tensor imaging study in humans has reported the existence of direct anatomical connections between the amygdala and sensory/(pre)motor cortices, corroborating an initial observation in animal research...
February 23, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28210983/multi-view-ensemble-classification-of-brain-connectivity-images-for-neurodegeneration-type-discrimination
#16
Michele Fratello, Giuseppina Caiazzo, Francesca Trojsi, Antonio Russo, Gioacchino Tedeschi, Roberto Tagliaferri, Fabrizio Esposito
Brain connectivity analyses using voxels as features are not robust enough for single-patient classification because of the inter-subject anatomical and functional variability. To construct more robust features, voxels can be aggregated into clusters that are maximally coherent across subjects. Moreover, combining multi-modal neuroimaging and multi-view data integration techniques allows generating multiple independent connectivity features for the same patient. Structural and functional connectivity features were extracted from multi-modal MRI images with a clustering technique, and used for the multi-view classification of different phenotypes of neurodegeneration by an ensemble learning method (random forest)...
February 16, 2017: Neuroinformatics
https://www.readbyqxmd.com/read/28210978/future-directions-in-imaging-neurodegeneration
#17
REVIEW
Joseph C Masdeu
Neuroimaging comprises a powerful set of instruments to diagnose various neurodegenerative disorders, clarifies their neurobiology, and monitors their treatment. Magnetic resonance imaging depicts volume changes, as well as abnormalities in functional and structural connectivity. Positron emission tomography (PET) allows for the quantification of regional cerebral metabolism, characteristically altered in Alzheimer's disease, amyotrophic lateral sclerosis, diffuse Lewy-body disease, and the frontotemporal dementias...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28203530/longitudinal-evaluation-of-cerebral-and-spinal-cord-damage-in-amyotrophic-lateral-sclerosis
#18
Milena de Albuquerque, Lucas Melo T Branco, Thiago Junqueira R Rezende, Helen Maia Tavares de Andrade, Anamarli Nucci, Marcondes Cavalcante França
OBJECTIVE: To evaluate MRI-based parameters as biomarkers of Amyotrophic Lateral Sclerosis (ALS) progression. METHODS: Twenty-seven patients and 27 controls performed two clinical and MRI acquisitions 8 months apart. ALSFRS-R scale was used to quantify disease severity at both time points. Multimodal analyses of MRI included cortical thickness measurements (FreeSurfer software), analysis of white matter integrity using diffusion-tensor imaging (tract-based spatial statistics-TBSS) and measurement of cervical spinal cord cross-sectional area (SpineSeg software)...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28150100/spontaneous-brain-activity-in-the-sensorimotor-cortex-in-amyotrophic-lateral-sclerosis-can-be-negatively-regulated-by-corticospinal-fiber-integrity
#19
Wataru Sako, Takashi Abe, Yuishin Izumi, Hiroki Yamazaki, Naoko Matsui, Masafumi Harada, Ryuji Kaji
Previous studies failed to detect reduced value of the amplitude of low frequency fluctuation (ALFF) derived from resting state functional magnetic resonance imaging in the primary motor cortex in amyotrophic lateral sclerosis (ALS) though primary motor cortex was mainly affected with ALS. We aimed to investigate the cause of masking the abnormality in the primary motor cortex in ALS and usefulness of ALFF for differential diagnosis among diseases showing muscle weakness. We enrolled ten patients with ALS and eleven disease controls showing muscle weakness...
February 1, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28116236/the-neural-correlates-and-clinical-characteristics-of-psychosis-in-the-frontotemporal-dementia-continuum-and-the-c9orf72-expansion
#20
Emma M Devenney, Ramon Landin-Romero, Muireann Irish, Michael Hornberger, Eneida Mioshi, Glenda M Halliday, Matthew C Kiernan, John R Hodges
OBJECTIVE: This present study aims to address the gap in the literature regarding the severity and underlying neural correlates of psychotic symptoms in frontotemporal dementia with and without the C9orf72 gene expansion. METHODS: Fifty-six patients with behavioural variant frontotemporal dementia (20 with concomitant amyotrophic lateral sclerosis) and 23 healthy controls underwent neuropsychological assessments, detailed clinical interview for assessment of psychosis symptoms, brain MRI and genetic testing...
2017: NeuroImage: Clinical
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