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multiple system atrophy

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https://www.readbyqxmd.com/read/28320130/spg2-mimicking-multiple-sclerosis-in-a-family-identified-using-next-generation-sequencing
#1
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico
Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319124/different-subregional-metabolism-patterns-in-patients-with-cerebellar-ataxia-by-18f-fluorodeoxyglucose-positron-emission-tomography
#2
Minyoung Oh, Jae Seung Kim, Jungsu S Oh, Chong Sik Lee, Sun Ju Chung
We evaluated cerebellar subregional metabolic alterations in patients with cerebellar ataxia, a representative disease involving the spinocerebellum. We retrospectively analyzed 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) images in 44 patients with multiple system atrophy of the cerebellar type (MSA-C), 9 patients with spinocerebellar ataxia (SCA) type 2, and 14 patients with SCA type 6 and compared with 15 patients with crossed cerebellar diaschisis (CCD) and 89 normal controls. Cerebellar subregional metabolism was assessed using 13 cerebellar subregions (bilateral anterior lobes [ANT], superior/mid/inferior posterior lobes [SUPP/MIDP/INFP], dentate nucleus [DN], anterior vermis [ANTV], and superior/inferior posterior vermis [SUPV/INFV]) to determine FDG uptake ratios...
2017: PloS One
https://www.readbyqxmd.com/read/28318507/usefulness-of-diffusion-tensor-mri-in-the-diagnosis-of-parkinson-variant-of-multiple-system-atrophy-and-parkinson-s-disease-a-valuable-tool-to-differentiate-between-them
#3
B Chen, G Fan, W Sun, X Shang, S Shi, S Wang, G Lv, C Wu
AIM: To evaluate the differences between patients with Parkinson's disease (PD) and Parkinson variant of multiple system atrophy (MSAp) at fractional anisotropy (FA) in the white matter when using the tract-based spatial statistics (TBSS) algorithm to provide objective markers for a differential diagnosis. MATERIALS AND METHODS: Diffusion-tensor imaging (DTI) data were acquired from 18 PD patients, 20 MSAp patients, and 24 healthy controls using a GE 3 T Signa HDx magnetic resonance imaging (MRI) system...
March 16, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28303913/multiple-system-atrophy-insights-into-a-rare-and-debilitating-movement-disorder
#4
REVIEW
Florian Krismer, Gregor K Wenning
Multiple system atrophy (MSA) is a devastating and fatal neurodegenerative disorder. The clinical presentation of this disease is highly variable, with parkinsonism, cerebellar ataxia and autonomic failure being the most common - and often debilitating - symptoms. These symptoms progress rapidly, and patients die from MSA-related complications after 9 years of symptom duration on average. Unfortunately, the course of the disease cannot be improved by drug or surgical treatment. In addition, symptomatic treatment options are currently limited, and therapeutic benefits are often only transient...
March 17, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28303851/tonic-electromyogram-density-in-multiple-system-atrophy-with-predominant-parkinsonism-and-parkinson-s-disease
#5
Yi Wang, Yun Shen, Kang-Ping Xiong, Pei-Cheng He, Cheng-Jie Mao, Jie Li, Fu-Yu Wang, Ya-Li Wang, Jun-Ying Huang, Chun-Feng Liu
BACKGROUND: Both Parkinson's disease (PD) and multiple system atrophy (MSA) have associated sleep disorders related to the underlying neurodegenerative pathology. Clinically, MSA with predominant parkinsonism (MSA-P) resembles PD in the manifestation of prominent parkinsonism. Whether the amount of rapid eye movement (REM) sleep without atonia could be a potential marker for differentiating MSA-P from PD has not been thoroughly investigated. This study aimed to examine whether sleep parameters could provide a method for differentiating MSA-P from PD...
March 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28296268/feasibility-and-efficacy-of-intra-arterial-administration-of-mesenchymal-stem-cells-in-an-animal-model-of-double-toxin-induced-multiple-system-atrophy
#6
Ha Na Kim, Dong Yeol Kim, Se Hee Oh, Hyung Sook Kim, Kyung Suk Kim, Phil Hyu Lee
Multiple system atrophy (MSA) is a sporadic neurodegenerative disease of the central and autonomic nervous system. Because no drug treatment consistently benefits MSA patients, neuroprotective strategy using mesenchymal stem cells (MSCs) has a lot of concern for the management of MSA. In this study, we investigated the safety and efficacy of intra-arterial administration of MSCs via internal carotid artery (ICA) in an animal model of MSA. The study was composed of feasibility test using a ×10 and ×50 of a standard dose of MSCs (4 × 10(7) MSCs) and efficacy test using a ×0...
March 13, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28295462/ferulic-acid-prevents-lead-induced-testicular-oxidative-stress-and-suppressed-spermatogenesis-in-rats
#7
P Hasanein, F Fazeli, M Parviz, M Roghani
Lead affects multiple organ systems including testis. We investigated the effects of ferulic acid (FA) on lead-induced oxidative stress and spermatogenesis suppression in rats. Animals received lead acetate (500 mg/L in drinking water) and/or FA (50 mg/kg, i.g.) for eight weeks. Lead increased testicular malondialdehyde (MDA) and nitrite levels and decreased glutathione (GSH) content and catalase (CAT) activity. Lead decreased testis weight and testosterone level. Sperm parameters decreased in lead group...
March 10, 2017: Andrologia
https://www.readbyqxmd.com/read/28291592/white-matter-and-cortical-changes-in-atypical-parkinsonisms-a-multimodal-quantitative-mr-study
#8
Stefano Zanigni, Stefania Evangelisti, Claudia Testa, David N Manners, Giovanna Calandra-Buonaura, Maria Guarino, Anna Gabellini, Laura Ludovica Gramegna, Giulia Giannini, Luisa Sambati, Pietro Cortelli, Raffaele Lodi, Caterina Tonon
OBJECTIVES: To evaluate white matter and cortical changes in patients with parkinsonisms and healthy controls (HC), applying both hypothesis-free and regions of interest (ROI)-based advanced brain MR analyses. METHODS: Twenty-five patients with Progressive Supranuclear Palsy - Richardson's Syndrome (PSP-RS), nine with cerebellar and nine with parkinsonian Multiple System Atrophy variants (MSA-C and MSA-P), forty-seven with Parkinson's Disease (PD) and twenty-seven HC underwent a 1...
March 6, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28290970/severe-systemic-lead-toxicity-resulting-from-extra-articular-retained-shrapnel-presenting-as-jaundice-and-hepatitis-a-case-report-and-review-of-the-literature
#9
Ian A Grasso, Matthew R Blattner, Tyler Short, John W Downs
INTRODUCTION: Despite greater than 60,000 nonfatal firearm injuries per year in the United States, retained shrapnel is a relatively rare cause of systemic lead toxicity with less than 100 cases reported in the medical literature since 1867. While intra-articular retained shrapnel as a cause of lead toxicity is well-described, extra-articular fragments are less well known to cause symptomatic disease. CASE REPORT: A 31-year-old man initially presented with abdominal pain, constipation, jaundice, and elevated liver transaminases approximately 3 weeks after suffering a left lower extremity injury during athletic activity...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28282814/the-synucleinopathies-twenty-years-on
#10
Michel Goedert, Ross Jakes, Maria Grazia Spillantini
In 2017, it is two hundred years since James Parkinson provided the first complete clinical description of the disease named after him, fifty years since the introduction of high-dose D,L-DOPA treatment and twenty years since α-synuclein aggregation came to the fore. In 1998, multiple system atrophy joined Parkinson's disease and dementia with Lewy bodies as the third major synucleinopathy. Here we review our work, which led to the identification of α-synuclein in Lewy bodies, Lewy neurites and Papp-Lantos bodies, as well as what has happened since...
2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28273785/cognitive-impairment-in-patients-with-multiple-sclerosis-is-associated-with-atrophy-of-the-inner-retinal-layers
#11
Danko Coric, Lisanne J Balk, Merike Verrijp, Anand Eijlers, Menno M Schoonheim, Joep Killestein, Bernard Mj Uitdehaag, Axel Petzold
BACKGROUND: Inner retinal layer (IRL) atrophy is a potential biomarker for neurodegeneration in multiple sclerosis (MS). OBJECTIVE: To investigate the relationship between cognitive impairment and IRL atrophy in MS. METHODS: Cross-sectional study design, including 217 patients and 59 healthy controls. Subjects were investigated clinically, underwent retinal optical coherence tomography (OCT) and comprehensive cognitive assessments. The association between these modalities was evaluated by regression analyses...
February 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28271739/role-of-the-microtubule-associated-tppp-p25-in-parkinson-s-and-related-diseases-and-its-therapeutic-potential
#12
Judit Oláh, Philippe Bertrand, Judit Ovádi
The discovery and development of therapeutic strategies for the treatments of Parkinson's disease (PD) and other synucleinopathies are limited by a lack of understanding of the pathomechanisms and their connection with different diseases such as cancers. Areas covered: The hallmarks of these diseases are frequently multifunctional disordered proteins displaying moonlighting and/or chameleon features, which are challenging drug targets. A representative of these proteins is the disordered Tubulin Polymerization Promoting Protein (TPPP/p25) expressed specifically in oligodendrocytes (OLGs) in normal brain...
March 8, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28266761/modulation-of-cerebellar-cortical-connections-in-multiple-system-atrophy-type-c-by-cerebellar-repetitive-transcranial-magnetic-stimulation
#13
F Gokcem Yildiz, Esen Saka, Bulent Elibol, Cagri Mesut Temucin
OBJECTIVE: This study aims at modulating the altered cerebellar-cortical interactions in patients with multiple system atrophy-cerebellar subtype (MSA-C) by using cerebellar repetitive transcranial magnetic stimulation (rTMS). We hypothesized that cerebellar modulation by low-frequency rTMS can resolve the abnormal cortical excitability in multiple system atrophy cerebellar subtype. MATERIALS AND METHODS: We studied detailed effects of rTMS of the cerebellum on reaction time (RT) and short-latency afferent inhibition (SAI) response in MSA-C group, Alzheimer Disease (AD) group, and a control group of healthy individuals...
March 7, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28260214/polydactylous-transverse-erythronychia-report-of-a-patient-with-multiple-horizontal-red-bands-affecting-the-fingernails
#14
Carina Chang, Bryce D Beutler, Philip R Cohen
INTRODUCTION: Redness of the nail plate-erythronychia-is a common condition involving one or multiple digits. It may affect the entire nail or present as longitudinal red bands that extend from the proximal nail fold to the distal tip of the nail plate. Rarely, red bands may traverse the nail bed horizontally. Although erythronychia is often idiopathic, it has also been associated with amyloidosis, Darier's disease, lichen planus, and various other cutaneous conditions. We describe the clinical features of a 64-year-old Caucasian man who presented with transverse and longitudinal erythronychia affecting his fingernails...
March 4, 2017: Dermatology and Therapy
https://www.readbyqxmd.com/read/28256434/pathologic-correlates-of-supranuclear-gaze-palsy-with-parkinsonism
#15
W R W Martin, J Hartlein, B A Racette, N Cairns, J S Perlmutter
INTRODUCTION: Supranuclear gaze palsy (SGP) is a classic clinical feature of progressive supranuclear palsy (PSP) but is not specific for this diagnosis and has been reported to occur in several other neurodegenerative parkinsonian conditions. Our objective was to evaluate the association between SGP and autopsy-proven diagnoses in a large population of patients with parkinsonism referred to a tertiary movement disorders clinic. METHODS: We reviewed clinical and autopsy data maintained in an electronic medical record from all patients seen in the Movement Disorders Clinic at Washington University, St...
February 24, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28255741/is-pure-autonomic-failure-an-early-marker-for-parkinson-disease-dementia-with-lewy-bodies-and-multiple-system-atrophy-and-other-updates-on-recent-autonomic-research
#16
EDITORIAL
Srikanth Muppidi, Mitchell G Miglis
No abstract text is available yet for this article.
March 2, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28250027/predictors-of-survival-in-progressive-supranuclear-palsy-and-multiple-system-atrophy-a-systematic-review-and-meta-analysis
#17
Stella Andrea Glasmacher, Peter Nigel Leigh, Romi Anirban Saha
OBJECTIVE: To undertake a systematic review and meta-analysis of studies that investigated prognostic factors and survival in patients with progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). METHODS: Publications of at least 10 patients with a likely or confirmed diagnosis of PSP or MSA were eligible for inclusion. Methodological quality was rated using a modified version of the Quality in Prognostic Studies tool. For frequently examined prognostic factors, HRs derived by univariate and multivariate analysis were pooled in separate subgroups; other results were synthesised narratively and HRs could not be reported here...
March 1, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28246328/synaptic-vesicle-glycoprotein-2c-sv2c-modulates-dopamine-release-and-is-disrupted-in-parkinson-disease
#18
Amy R Dunn, Kristen A Stout, Minagi Ozawa, Kelly M Lohr, Carlie A Hoffman, Alison I Bernstein, Yingjie Li, Minzheng Wang, Carmelo Sgobio, Namratha Sastry, Huaibin Cai, W Michael Caudle, Gary W Miller
Members of the synaptic vesicle glycoprotein 2 (SV2) family of proteins are involved in synaptic function throughout the brain. The ubiquitously expressed SV2A has been widely implicated in epilepsy, although SV2C with its restricted basal ganglia distribution is poorly characterized. SV2C is emerging as a potentially relevant protein in Parkinson disease (PD), because it is a genetic modifier of sensitivity to l-DOPA and of nicotine neuroprotection in PD. Here we identify SV2C as a mediator of dopamine homeostasis and report that disrupted expression of SV2C within the basal ganglia is a pathological feature of PD...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28246183/bioassays-and-inactivation-of-prions
#19
Kurt Giles, Amanda L Woerman, David B Berry, Stanley B Prusiner
The experimental study of prions requires a model for their propagation. However, because prions lack nucleic acids, the simple techniques used to replicate bacteria and viruses are not applicable. For much of the history of prion research, time-consuming bioassays in animals were the only option for measuring infectivity. Although cell models and other in vitro tools for the propagation of prions have been developed, they all suffer limitations, and animal bioassays remain the gold standard for measuring infectivity...
February 28, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28244178/evaluation-of-an-optimized-18-f-fluoro-deoxy-glucose-positron-emission-tomography-voxel-wise-method-to-early-support-differential-diagnosis-in-atypical-parkinsonian-disorders
#20
S P Caminiti, P Alongi, L Majno, M A Volontè, C Cerami, L Gianolli, G Comi, D Perani
BACKGROUND AND PURPOSE: Atypical Parkinsonian disorders (APD) frequently overlap in clinical presentations, making the differential diagnosis challenging in the early stages. The present study aimed to evaluate the accuracy of the [(18) F]fluoro-deoxy-glucose positron emission tomography Statistical Parametric Mapping (SPM) optimized procedure in supporting the early and differential diagnosis of APD. METHODS: Seventy patients with possible APD were retrospectively included from a large clinical cohort...
February 28, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
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