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Multiple systems atrophy

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https://www.readbyqxmd.com/read/28809053/case-of-possible-multiple-system-atrophy-with-a-characteristic-imaging-finding-of-open-bladder-neck-during-storage-phase-as-an-initial-sign
#1
Lu Zhang, Nobuhiro Haga, Soichiro Ogawa, Kanako Matsuoka, Tomoyuki Koguchi, Hidenori Akaihata, Junya Hata, Masao Kataoka, Kei Ishibashi, Yoshiyuki Kojima
Multiple system atrophy is a neurodegenerative disease that affects autonomic and motor systems. Patients with multiple system atrophy usually experience lower urinary tract symptoms, which sometimes appear as an initial symptom before the emergence of the generalized symptoms. An open bladder neck during the filling phase on video urodynamic study is one characteristic imaging finding after the diagnosis of multiple system atrophy, but has not previously been reported at an early phase of the disease. We report a case in which an open bladder neck was observed on several imaging modalities before generalized symptoms emerged...
August 15, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28805573/nonmotor-features-in-atypical-parkinsonism
#2
Kailash P Bhatia, Maria Stamelou
Atypical parkinsonism (AP) comprises mainly multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), which are distinct pathological entities, presenting with a wide phenotypic spectrum. The classic syndromes are now called MSA-parkinsonism (MSA-P), MSA-cerebellar type (MSA-C), Richardson's syndrome, and corticobasal syndrome. Nonmotor features in AP have been recognized almost since the initial description of these disorders; however, research has been limited...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28803444/atypical-parkinsonian-syndromes-a-general-neurologist-s-perspective
#3
REVIEW
Angela B Deutschländer, Owen A Ross, Dennis W Dickson, Zbigniew K Wszolek
The differential diagnosis of atypical parkinsonian syndromes is challenging. These severe and often rapidly progressive neurodegenerative disorders are clinically heterogeneous and show significant phenotypic overlap. Here we review clinical, imaging, neuropathologic and genetic features of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal lobar degeneration (FTLD). The terms CBD and FTLD refer to pathologically confirmed cases of corticobasal syndrome (CBS) and frontotemporal dementia (FTD)...
August 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28799303/clinical-profile-of-dysphagia-in-patients-with-parkinson-s-disease-progressive-supranuclear-palsy-and-multiple-system-atrophy
#4
Sulena, Dipti Gupta, Anjani Kumar Sharma, Baltej Singh
BACKGROUND: Swallowing changes are commonly observed in Parkinson's and Parkinsonism plus syndromes. Expeditious identification is necessary to provide early intervention in this population to avoid risk of aspiration and swallowing complications. OBJECTIVE: To investigate swallowing problems using detailed case history and swallowing speed on 3 ounce water test in three groups i.e. PD, MSA and PSP groups and further, to compare it with control group. SUBJECT AND METHODS: Cross sectional study design...
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28794257/clinical-and-genetic-characteristics-of-sporadic-adult-onset-degenerative-ataxia
#5
Ilaria Giordano, Florian Harmuth, Heike Jacobi, Brigitte Paap, Stefan Vielhaber, Judith Machts, Ludger Schöls, Matthis Synofzik, Marc Sturm, Chantal Tallaksen, Iselin M Wedding, Sylvia Boesch, Andreas Eigentler, Bart van de Warrenburg, Judith van Gaalen, Christoph Kamm, Ales Dudesek, Jun-Suk Kang, Dagmar Timmann, Gabriella Silvestri, Marcella Masciullo, Thomas Klopstock, Christiane Neuhofer, Christos Ganos, Alessandro Filla, Peter Bauer, Sophie Tezenas du Montcel, Thomas Klockgether
OBJECTIVE: To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. METHODS: The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. RESULTS: The analysis was performed on 249 participants...
August 9, 2017: Neurology
https://www.readbyqxmd.com/read/28782838/critical-appraisal-of-clinical-trials-in-multiple-system-atrophy-toward-better-quality
#6
REVIEW
Ana Castro Caldas, Johannes Levin, Ruth Djaldetti, Olivier Rascol, Gregor Wenning, Joaquim J Ferreira
Multiple system atrophy (MSA) is a rare neurodegenerative disease of undetermined cause. Although many clinical trials have been conducted, there is still no treatment that cures the disease or slows its progression. We sought to assess the clinical trials, methodology, and quality of reporting of clinical trails conducted in MSA patients. We conducted a systematic review of all trials with at least 1 MSA patient subject to any pharmacological/nonpharmacological interventions. Two independent reviewers evaluated the methodological characteristics and quality of reporting of trials...
August 7, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28782341/genetic-screening-for-spinocerebellar-ataxia-genes-in-a-japanese-single-hospital-cohort
#7
Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura
Objective: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort...
August 8, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28780180/neuropathology-of-parkinson-disease
#8
Dennis W Dickson
INTRODUCTION: Parkinson's disease (PD) is characterized by bradykinesia, rigidity, postural instability and tremor. Several pathologic processes can produce this syndrome, but neurodegeneration accompanied by neuronal inclusions composed of α-synuclein (Lewy bodies) is considered the typical pathologic correlate of PD. METHODS: The neuropathologic features of PD are reviewed based upon personal experience and review of the literature. Molecular pathology of PD is summarized from cell biological and animal studies...
August 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28771723/-prion-like-propagation-of-the-synucleinopathy-of-m83-transgenic-mice-depends-on-the-mouse-genotype-and-type-of-inoculum
#9
Dorian Sargent, Jérémy Verchere, Corinne Lazizzera, Damien Gaillard, Latifa Lakhdar, Nathalie Streichenberger, Eric Morignat, Dominique Bétemps, Thierry Baron
The M83 transgenic mouse is a model of human synucleinopathies that develops severe motor impairment correlated with accumulation of the pathological Ser129-phosphorylated α-synuclein (α-syn(P) ) in the brain and spinal cord. M83 disease can be accelerated by intracerebral inoculation of brain extracts from sick M83 mice. This has also recently been described using peripheral routes, injecting recombinant preformed α-syn fibrils into the muscle or the peritoneum. Here, we inoculated homozygous and/or hemizygous M83 neonates via the intraperitoneal and/or intracerebral routes with two different brain extracts: one from sick M83 mice inoculated with brain extract from other sick M83 mice, and the other derived from a human multiple system atrophy (MSA) source passaged in M83 mice...
August 3, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28770651/multiple-system-atrophy-many-lessons-from-the-transcriptome
#10
Ashton Curry-Hyde, Bei Jun Chen, Uwe Ueberham, Thomas Arendt, Michael Janitz
Multiple system atrophy (MSA) is a complex, multifactorial, debilitating neurodegenerative disease that is often misdiagnosed and misunderstood. MSA has two subclasses, MSA-P and MSA-C, defined by the dominance of parkinsonism or cerebellar dysfunction in the earlier stages of disease, coupled with dysautonomia. This distinction between subclasses becomes largely redundant as the disease progresses. Aggregation of α-synuclein is a clinical marker used to confirm MSA diagnoses, which can only be performed postmortem...
August 1, 2017: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
https://www.readbyqxmd.com/read/28762086/regional-microstructural-damage-and-patterns-of-eye-movement-impairment-a-dti-and-video-oculography-study-in-neurodegenerative-parkinsonian-syndromes
#11
Martin Gorges, Melanie N Maier, Johannes Rosskopf, Olga Vintonyak, Elmar H Pinkhardt, Albert C Ludolph, Hans-Peter Müller, Jan Kassubek
Characteristic alterations of eye movement control are a common feature of neurodegenerative parkinsonism, including Parkinson's disease (PD), progressive supranuclear palsy (PSP), and multiple system atrophy (MSA). Regional microstructural alterations as assessed by diffusion tensor imaging (DTI) have been reported in PD, PSP, and MSA. Therefore, we investigated the specific association between eye movement disturbances and microstructural impairment in these diseases. Video-oculographic recordings of smooth pursuit and visually guided reactive saccades as well as fractional anisotropy (FA) maps computed from whole-brain DTI data were analyzed for 36 PD, 30 PSP, 18 MSA patients, and 23 matched healthy control subjects...
July 31, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28757850/anesthetic-considerations-in-a-patient-with-multiple-system-atrophy-cerebellar-for-lower-limb-surgery
#12
Sandhya Agarwal, Ritu Aggarwal
No abstract text is available yet for this article.
July 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28751258/distinct-%C3%AE-synuclein-strains-and-implications-for-heterogeneity-among-%C3%AE-synucleinopathies
#13
REVIEW
Chao Peng, Ronald J Gathagan, Virginia M-Y Lee
The deposition of misfolded β-sheet enriched amyloid protein is a shared feature of many neurodegenerative diseases. Recent studies demonstrated the existence of conformationally diverse strains as a common property for multiple amyloidogenic proteins including α-Synuclein (α-Syn). α-Syn is misfolded and aggregated in a group of neurodegenerative diseases collectively known as α-Synucleinopathies, which include Parkinson's disease (PD), dementia with Lewy body, multiple system atrophy and also a subset of Alzheimer's disease patients with concomitant PD-like Lewy bodies and neurites...
July 24, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28748633/depression-and-anxiety-in-multiple-system-atrophy
#14
L-Y Zhang, B Cao, Y-T Zou, Q-Q Wei, R-W Ou, B Zhao, Y Wu, H-F Shang
BACKGROUND: It has been noticed that the patients with multiple system atrophy (MSA) can accompany with depression and anxiety. This study aimed to establish the incidence and determinants of depression and anxiety symptoms in Chinese MSA patients. METHODS: A total of 237 MSA patients were enrolled in the study. Neuropsychological assessment was performed using Hamilton Depression Rating Scale-24 items and Hamilton Anxiety Rating Scale. RESULTS: We found that 62...
July 26, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28746923/parkinsonian-patients-with-striatal-cribriform-state-present-rapidly-progressive-axial-parkinsonism
#15
Seung Ha Lee, Chul Hyoung Lyoo, Hanna Cho, Juha O Rinne, Myung Sik Lee
OBJECTIVE: To define the significance of striatal cribriform state (SCS) observed in patients with primary progressive parkinsonism. METHODS: We reviewed medical records and brain magnetic resonance imaging studies of 1,260 patients with primary progressive parkinsonism. We identified 23 patients with SCS and analyzed their clinical features. RESULTS: All 23 patients had rapidly progressive parkinsonism predominated by postural instability and gait disturbance...
July 26, 2017: European Neurology
https://www.readbyqxmd.com/read/28735887/effect-of-pyrethroids-on-female-genital-system-review
#16
REVIEW
Elena Marettova, Milan Maretta, Jaroslav Legáth
Pyrethroids have been associated with a range of toxicological effects on various organs in animals.Recent animal studies suggest that neurodevelopmental, reproductive, and immunological effects may result following exposure to some pyrethroids at levels below those that induce overt signs of neurotoxicity. A variety of pyrethroids and their metabolites have the potential to affect the reproductive system. Dose-dependent effects on reproduction are associated with exposure across pyrethroid types. In mammals, permethrin and tetramethrin and cypermethrin have been found to be associated with adverse effects at high doses...
July 16, 2017: Animal Reproduction Science
https://www.readbyqxmd.com/read/28732710/cytokine-profiling-in-the-prefrontal-cortex-of-parkinson-s-disease-and-multiple-system-atrophy-patients
#17
Rasmus Rydbirk, Betina Elfving, Mille Dahl Andersen, Mia Aggergaard Langbøl, Jonas Folke, Kristian Winge, Bente Pakkenberg, Tomasz Brudek, Susana Aznar
Parkinson's Disease (PD) and Multiple System Atrophy (MSA) are neurodegenerative diseases characterized neuropathologically by alpha-synuclein accumulation in brain cells. This accumulation is hypothesized to contribute to constitutive neuroinflammation, and to participate in the neurodegeneration. Cytokines, which are the main inflammatory signalling molecules, have been identified in blood and cerebrospinal fluid of PD patients, but studies investigating the human brain levels are scarce. It is documented that neurotrophins, necessary for survival of brain cells and known to interact with cytokines, are altered in the basal ganglia of PD patients...
July 19, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28728825/genetic-diseases-of-piezo1-and-piezo2-dysfunction
#18
S L Alper
Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis...
2017: Current Topics in Membranes
https://www.readbyqxmd.com/read/28716886/clinical-neurology-and-epidemiology-of-the-major-neurodegenerative-diseases
#19
Michael G Erkkinen, Mee-Ohk Kim, Michael D Geschwind
Neurodegenerative diseases are a common cause of morbidity and cognitive impairment in older adults. Most clinicians who care for the elderly are not trained to diagnose these conditions, perhaps other than typical Alzheimer's disease (AD). Each of these disorders has varied epidemiology, clinical symptomatology, laboratory and neuroimaging features, neuropathology, and management. Thus, it is important that clinicians be able to differentiate and diagnose these conditions accurately. This review summarizes and highlights clinical aspects of several of the most commonly encountered neurodegenerative diseases, including AD, frontotemporal dementia (FTD) and its variants, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), Parkinson's disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and Huntington's disease (HD)...
July 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28713844/epidemiology-diagnosis-and-management-of-neurogenic-orthostatic-hypotension
#20
Jose-Alberto Palma, Horacio Kaufmann
BACKGROUND: Orthostatic hypotension (OH) is a sustained fall in blood pressure on standing which can cause symptoms of organ hypoperfusion. OH is associated with increased morbidity and mortality and leads to a significant number of hospital admissions particularly in the elderly (233 per 100,000 patients over 75 years of age in the US). OH can be due to volume depletion, blood loss, large varicose veins, medications, or due to defective activation of sympathetic nerves and reduced norepinephrine release upon standing (i...
May 2017: Movement Disorders Clinical Practice
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