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Multiple systems atrophy

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https://www.readbyqxmd.com/read/28728825/genetic-diseases-of-piezo1-and-piezo2-dysfunction
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28705587/diagnosis-of-parkinson-s-disease-and-the-level-of-oxidized-dj-1-protein
#4
Yuko Yamagishi, Kazumasa Saigoh, Yoshiro Saito, Ikuko Ogawa, Yoshiyuki Mitsui, Yukihiro Hamada, Makoto Samukawa, Hidekazu Suzuki, Motoi Kuwahara, Makito Hirano, Noriko Noguchi, Susumu Kusunoki
Parkinson's disease (PD) is difficult to distinguish from progressive supranuclear palsy (PSP) and multiple system atrophy (MSA); in addition, biomarker studies in PD mostly focused on those found in the cerebrospinal fluid, and there are few reports of simple biomarkers identified by blood analysis. Previously, the DJ-1 gene was identified as a causative gene of familial PD. Oxidized DJ-1 protein (oxDJ-1) levels were reported to increase in the blood of patients with unmedicated PD. Therefore, we determined the levels of oxDJ-1 in the erythrocytes of patients with PD, PSP, and MSA using ELISA...
July 10, 2017: Neuroscience Research
https://www.readbyqxmd.com/read/28697838/-hypertension-and-intermittent-convulsions-for-one-month-in-a-school-age-child
#5
Mao-Qiang Tian, Shu-Yi Liu, Juan Li, Xiao-Mei Shu
Childhood polyarteritis nodosa (PAN) is a rare systemic vasculitis and the delayed diagnosis and treatment will cause high incidence of sequelae and high mortality. This article reports a girl with childhood PAN due to posterior reversible encephalopathy syndrome (PRES). The girl aged ten years was admitted to the hospital due to hypertension and convulsions for one month. She had complaints of headache, vomiting, and blurred vision before convulsions. At six months before admission, a mass was observed in the neck...
July 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28689259/differential-diagnosis-of-parkinsonism-by-a-combined-use-of-diffusion-kurtosis-imaging-and-quantitative-susceptibility-mapping
#6
Kenji Ito, Chigumi Ohtsuka, Kunihiro Yoshioka, Hiroyuki Kameda, Suguru Yokosawa, Ryota Sato, Yasuo Terayama, Makoto Sasaki
PURPOSE: We investigated whether diffusion kurtosis imaging (DKI) and quantitative susceptibility mapping (QSM) could detect pathological changes that occur in Parkinson's disease (PD), multiple system atrophy with predominant parkinsonism (MSA-P) or predominant cerebellar ataxia (MSA-C), and progressive supranuclear palsy syndrome (PSPS) and thus be used for differential diagnosis that is often difficult. METHODS: Seventy patients (41 with PD, 6 with MSA-P, 7 with MSA-C, 16 with PSPS) and 20 healthy controls were examined using a 3...
July 8, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28684245/assessment-of-neuroinflammation-in-patients-with-idiopathic-rapid-eye-movement-sleep-behaviour-disorder-a-case-control-study
#7
Morten Gersel Stokholm, Alex Iranzo, Karen Østergaard, Mónica Serradell, Marit Otto, Kristina Bacher Svendsen, Alicia Garrido, Dolores Vilas, Per Borghammer, Joan Santamaria, Arne Møller, Carles Gaig, David J Brooks, Eduardo Tolosa, Nicola Pavese
BACKGROUND: Findings from longitudinal follow-up studies in patients with idiopathic rapid-eye-movement sleep behaviour disorder (IRBD) have shown that most patients will eventually develop the synucleinopathies Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. Neuroinflammation in the form of microglial activation is present in synucleinopathies and is a potential therapeutic target to halt or delay the neurodegenerative process. We aimed to investigate whether neuroinflammation is present in patients with IRBD and its possible relation to nigrostriatal dopamine function...
July 3, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28683089/the-composite-autonomic-symptom-scale-31-is-a-useful-screening-tool-for-patients-with-parkinsonism
#8
Younsoo Kim, Jin Myoung Seok, Jongkyu Park, Kun-Hyun Kim, Ju-Hong Min, Jin Whan Cho, Suyeon Park, Hyun-Jin Kim, Byoung Joon Kim, Jinyoung Youn
Differentiation of multiple system atrophy with predominant parkinsonism (MSA-P) and Parkinson's disease (PD) is important, but an effective tool for differentiation has not been identified. We investigated the efficacy of the composite autonomic symptom scale 31 (COMPASS 31) questionnaire as a tool for evaluating autonomic function in parkinsonism patients. In this study, we enrolled drug-naïve patients with MSA-P and PD, and administered the COMPASS-31 and an objective autonomic dysfunction test (AFT). Demographic and clinical data, including parkinsonism and autonomic dysfunction, were compared between the two groups...
2017: PloS One
https://www.readbyqxmd.com/read/28680652/validity-and-reliability-of-a-pilot-scale-for-assessment-of-multiple-system-atrophy-symptoms
#9
Masaaki Matsushima, Ichiro Yabe, Ikuko Takahashi, Makoto Hirotani, Takahiro Kano, Kazuhiro Horiuchi, Hideki Houzen, Hidenao Sasaki
BACKGROUND: Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder for which brief yet sensitive scale is required in order for use in clinical trials and general screening. We previously compared several scales for the assessment of MSA symptoms and devised an eight-item pilot scale with large standardized response mean [handwriting, finger taps, transfers, standing with feet together, turning trunk, turning 360°, gait, body sway]. The aim of the present study is to investigate the validity and reliability of a simple pilot scale for assessment of multiple system atrophy symptoms...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680650/stratification-of-disease-progression-in-a-broad-spectrum-of-degenerative-cerebellar-ataxias-with-a-clustering-method-using-mri-based-atrophy-rates-of-brain-structures
#10
Rie Sasaki, Futaba Maki, Daisuke Hara, Shigeaki Tanaka, Yasuhiro Hasegawa
BACKGROUND: The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, we analyzed atrophy changes in brain structures with cluster analysis to find sub-groups of patients with homogenous symptom progression in a broad spectrum of degenerative cerebellar ataxias. METHODS: We examined 48 patients including 21 cases of spinocerebellar ataxia (SCA), 17 cases of the cerebellar type of multiple system atrophy (MSA-C), and 10 cases of cortical cerebellar ataxia (CCA)...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680463/diagnosis-and-treatment-of-herpes-simplex-1-virus-infection-in-pregnancy
#11
REVIEW
Rachel Lee, Manju Nair
A nulliparous woman presented at 21 weeks' gestation with a 72-h history of a rash on her left arm. Initially isolated to the forearm, it had quickly spread, becoming multiple itchy fluid-filled blisters. Blood tests showed mild neutrophilia and raised CRP. Skin swabs demonstrated the presence of herpes simplex virus type 1 (HSV1) DNA. There was no history of previous HSV1 exposure. There is scant literature on uncomplicated cutaneous HSV1 since the majority is oral/genital. The incidence of transmission varies and is dependent on site of infection and immunological status...
June 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/28676787/slowed-prosaccades-and-increased-antisaccade-errors-as-a-potential-behavioral-biomarker-of-multiple-system-atrophy
#12
Sarah H Brooks, Eliana M Klier, Stuart D Red, Neeti D Mehta, Saumil S Patel, Alice Z Chuang, Jessika Suescun, Mya C Schiess, Anne B Sereno
Current clinical diagnostic tools are limited in their ability to accurately differentiate idiopathic Parkinson's disease (PD) from multiple system atrophy (MSA) and other parkinsonian disorders early in the disease course, but eye movements may stand as objective and sensitive markers of disease differentiation and progression. To assess the use of eye movement performance for uniquely characterizing PD and MSA, subjects diagnosed with PD (N = 21), MSA (N = 11), and age-matched controls (C, N = 20) were tested on the prosaccade and antisaccade tasks using an infrared eye tracker...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28676095/toll-like-receptor-4-stimulation-with-monophosphoryl-lipid-a-ameliorates-motor-deficits-and-nigral-neurodegeneration-triggered-by-extraneuronal-%C3%AE-synucleinopathy
#13
Serena Venezia, Violetta Refolo, Alexia Polissidis, Leonidas Stefanis, Gregor K Wenning, Nadia Stefanova
BACKGROUND: Alpha-synuclein (α-syn) aggregation represents the pathological hallmark of α-synucleinopathies like Parkinson's disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). Toll-like receptors (TLRs) are a family of highly conserved molecules that recognize pathogen-associated molecular patterns and define the innate immunity response. It was previously shown that TLR4 plays a role in the clearance of α-syn, suggesting that TLR4 up-regulation in microglia may be a natural mechanism to improve the clearance of α-syn...
July 4, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28671311/cognitive-impairment-in-multiple-system-atrophy
#14
REVIEW
Eleonora Fiorenzato, Angelo Antonini, Gregor Wenning, Roberta Biundo
No abstract text is available yet for this article.
July 3, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28671292/reply-re-profile-of-cognitive-impairment-and-underlying-pathology-in-multiple-system-atrophy
#15
REVIEW
Shunsuke Koga, Adam Parks, Dennis W Dickson
No abstract text is available yet for this article.
July 3, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28669454/neurophysiological-studies-on-atypical-parkinsonian-syndromes
#16
REVIEW
Matteo Bologna, Antonio Suppa, Flavio Di Stasio, Antonella Conte, Giovanni Fabbrini, Alfredo Berardelli
There have been a relatively large number of experimental investigations using neurophysiological techniques in patients with atypical parkinsonian syndromes (APs), including progressive supranuclear palsy, cortico-basal syndrome and multiple system atrophy. Earlier studies focused on the startle, blink and trigemino-cervical reflexes and showed several brainstem abnormalities. Studies using transcranial magnetic stimulation have revealed a number of abnormalities in primary motor cortex and inter-hemispheric connectivity...
June 27, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28655310/protease-activated-receptor-1-activation-by-granzyme-b-causes-neurotoxicity-that-is-augmented-by-interleukin-1%C3%AE
#17
Paul R Lee, Tory P Johnson, Sharmilee Gnanapavan, Gavin Giovannoni, Tongguang Wang, Joseph P Steiner, Marie Medynets, Mark J Vaal, Valerie Gartner, Avindra Nath
BACKGROUND: The cause of neurodegeneration in progressive forms of multiple sclerosis is unknown. We investigated the impact of specific neuroinflammatory markers on human neurons to identify potential therapeutic targets for neuroprotection against chronic inflammation. METHODS: Surface immunocytochemistry directly visualized protease-activated receptor-1 (PAR1) and interleukin-1 (IL-1) receptors on neurons in human postmortem cortex in patients with and without neuroinflammatory lesions...
June 27, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28651750/reduced-orexin-immunoreactivity-in-perry-syndrome-and-multiple-system-atrophy
#18
Takayasu Mishima, Koji Kasanuki, Shunsuke Koga, Monica Castanedes-Casey, Zbigniew K Wszolek, Yoshio Tsuboi, Dennis W Dickson
INTRODUCTION: Orexin is a neuropeptide that plays a key role in maintaining a state of arousal, and possibly associates with sleep apnea syndrome (SAS). Reduced orexin immunoreactivity has been reported in various neurologic conditions such as narcolepsy, Alzheimer's disease, Lewy body disease and multiple system atrophy (MSA); however, there has been no report investigating orexin in Perry syndrome, a rare hereditary neurodegenerative disease characterized by four clinical cardinal signs (parkinsonism, depression/apathy, weight loss, and central hypoventilation)...
June 12, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28647892/postprandial-hypotension-in-neurological-disorders-systematic-review-and-meta-analysis
#19
REVIEW
Antun Pavelić, Magdalena Krbot Skorić, Luka Crnošija, Mario Habek
PURPOSE: Postprandial hypotension (PPH) has been associated with increased risk of syncope, falls, stroke, angina and mortality. As the majority of patients with PPH are asymptomatic, the diagnosis is often overlooked. The aim of this study was to perform a systematic review and meta-analysis of available scientific evidence on the likelihood of PPH in neurological diseases. METHODS: A systematic review of the literature (PubMed library, Cochrane Database for Systematic Reviews and Cochrane Central Register of Controlled Trials for results up to January 2017) identified 327 studies, of which 11 reported the frequency of PPH in patients with neurological diseases compared to healthy controls...
June 24, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28632692/improved-123i-ioflupane-binding-after-immunotherapy-in-anti-nae-antibody-positive-hashimoto-encephalopathy-that-clinically-mimicked-multiple-system-atrophy
#20
Juuri Otsuka, Ayumi Hida, Kamiyu Ogyu, Ryogo Minamimoto, Sousuke Takeuchi
We describe an 84-year-old man with anti-NH2-terminal of α-enolase antibody-positive Hashimoto encephalopathy that clinically mimicked multiple system atrophy who underwent investigation by dopamine transporter SPECT before and after immunotherapy. Before treatment, dopamine transporter SPECT showed reduced striatal I-ioflupane binding, with a mean specific binding ratio of 2.42, even though he had no apparent parkinsonism. After immunotherapy, mean specific binding ratio was improved to 3.22. Dopamine transporter SPECT was useful in this case to detect subclinical striatal dysfunction, and evaluation both before and after immunotherapy helped to distinguish between neurodegenerative disease and neuroimmunological disorder...
August 2017: Clinical Nuclear Medicine
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