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Multiple systems atrophy

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https://www.readbyqxmd.com/read/29349611/abstracts-of-the-6th-international-multiple-system-atrophy-congress
#1
(no author information available yet)
No abstract text is available yet for this article.
January 18, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29339765/mutations-in-bassoon-in-individuals-with-familial-and-sporadic-progressive-supranuclear-palsy-like-syndrome
#2
Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Kato, Yasuo Miki, Hidehisa Takahashi, Satoshi Tanikawa, Shinichi Shirai, Ikuko Takahashi, Mari Kimura, Yuka Hama, Masaaki Matsushima, Shinsuke Fujioka, Takahiro Kano, Masashi Watanabe, Shin Nakagawa, Yasuyuki Kunieda, Yoshio Ikeda, Masato Hasegawa, Hiroshi Nishihara, Toshihisa Ohtsuka, Shinya Tanaka, Yoshio Tsuboi, Shigetsugu Hatakeyama, Koichi Wakabayashi, Hidenao Sasaki
Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29337114/pathological-endogenous-%C3%AE-synuclein-accumulation-in-oligodendrocyte-precursor-cells-potentially-induces-inclusions-in-multiple-system-atrophy
#3
Seiji Kaji, Takakuni Maki, Hisanori Kinoshita, Norihito Uemura, Takashi Ayaki, Yasuhiro Kawamoto, Takahiro Furuta, Makoto Urushitani, Masato Hasegawa, Yusuke Kinoshita, Yuichi Ono, Xiaobo Mao, Tran H Quach, Kazuhiro Iwai, Valina L Dawson, Ted M Dawson, Ryosuke Takahashi
Glial cytoplasmic inclusions (GCIs), commonly observed as α-synuclein (α-syn)-positive aggregates within oligodendrocytes, are the pathological hallmark of multiple system atrophy. The origin of α-syn in GCIs is uncertain; there is little evidence of endogenous α-syn expression in oligodendrocyte lineage cells, oligodendrocyte precursor cells (OPCs), and mature oligodendrocytes (OLGs). Here, based on in vitro analysis using primary rat cell cultures, we elucidated that preformed fibrils (PFFs) generated from recombinant human α-syn trigger multimerization and an upsurge of endogenous α-syn in OPCs, which is attributable to insufficient autophagic proteolysis...
December 27, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#4
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29317308/molecular-characterization-of-caspase-members-and-expression-response-to-nervous-necrosis-virus-outbreak-in-pacific-cod
#5
Ming-Guang Mao, Jie-Lan Jiang, Zhi-Qiang Jiang, Rui-Ting Liu, Qi-Ya Zhang, Jian-Fang Gui
Multiple functions of caspases include normal cell turnover, proper development and function of the immune system, hormone-dependent atrophy, embryonic development and chemical-induced cell injury. During artificial propagation of Pacific cod, Gadus macrocephalus, high mortality occurred during early development stages. Here, we performed various analyses on the cDNA and protein sequences of six different G. macrocephalus caspases namely GmCasp3, 6, 7, 8, 9 and 10, and tried to investigate the contributions of caspase family to the development and Nervous Necrosis Virus (NNV) resistance...
January 6, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29313153/first-symptoms-in-multiple-system-atrophy
#6
Jake H McKay, William P Cheshire
PURPOSE: The initial symptoms of multiple system atrophy (MSA) and, in particular, early autonomic symptoms, have received less attention than motor symptoms. Whereas pathognomonic motor signs are essential to diagnostic specificity, early symptoms important to recognition of a neurodegenerative disorder may be less apparent or diagnostically ambiguous. This observational study sought to identify the very earliest symptoms in the natural history of MSA. METHODS: Detailed clinical histories focusing on early symptoms were obtained from 30 subjects recently diagnosed with MSA...
January 8, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29311010/present-and-future-of-disease-modifying-therapies-in-multiple-system-atrophy
#7
REVIEW
Miguel Lopez-Cuina, Alexandra Foubert-Samier, François Tison, Wassilios G Meissner
Through the last decade seven clinical trials on Multiple System Atrophy have been published, virtually all of them reported negative results. Patients and family remain hopeful while facing this devastating disease, but as doctors we still cannot offer them disease-modifying therapies. The field has seen many advances regarding pathophysiology, translational research, diagnostic accuracy, natural history and imaging, but successful treatment remains elusive. This review provides an overview of the available tools for designing clinical trials, critically analyzes the past studies and describes the knowledge obtained from them, and finally gives some orientation for future trials that could meet the current needs of patients and clinicians, overcoming the hurdles met by previous studies...
January 4, 2018: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29305061/a-refined-concept-%C3%AE-synuclein-dysregulation-disease
#8
REVIEW
Hideki Mochizuki, Chi-Jing Choong, Eliezer Masliah
α-synuclein (αSyn) still remains a mysterious protein even two decades after SNCA encoding it was identified as the first causative gene of familial Parkinson's disease (PD). Accumulation of αSyn causes α-synucleinopathies including PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA). Recent advances in therapeutic approaches offer new antibody-, vaccine-, antisense-oligonucleotide- and small molecule-based options to reduce αSyn protein levels and aggregates in patient's brain. Gathering research information of other neurological disease particularly Alzheimer's disease, recent disappointment of an experimental amyloid plaques busting antibody in clinical trials underscores the difficulty of treating people who show even mild dementia as damage in their brain may already be too extensive...
January 2, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29299614/cortical-and-subcortical-morphometric-and-iron-changes-in-relapsing-remitting-multiple-sclerosis-and-their-association-with-white-matter-t2%C3%A2-lesion-load-a%C3%A2-3-tesla-magnetic-resonance-imaging-study
#9
Ali Al-Radaideh, Imad Athamneh, Hadeel Alabadi, Majed Hbahbih
INTRODUCTION: This study was carried out to investigate the global and regional morphometric and iron changes in grey matter (GM) of multiple sclerosis (MS) patients and link them to the white matter (WM) lesions in a multimodal magnetic resonance imaging approach. MATERIAL AND METHODS: The study involved 30 relapsing-remitting MS (RRMS) patients along with 30 age-matched healthy controls (HC) who were scanned on a 3T Siemens Trio system. The scanning protocol included a 3D, high resolution T1, T2, and T2*-weighted sequences...
January 3, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29298733/progressive-striatonigral-degeneration%C3%A2-in-a-transgenic-mouse-model-of-multiple-system-atrophy-translational-implications-for-interventional-therapies
#10
Violetta Refolo, Francesco Bez, Alexia Polissidis, Daniela Kuzdas-Wood, Edith Sturm, Martina Kamaratou, Werner Poewe, Leonidas Stefanis, M Angela Cenci, Marina Romero-Ramos, Gregor K Wenning, Nadia Stefanova
Multiple system atrophy (MSA) is a rapidly progressive neurodegenerative disorder characterized by widespread oligodendroglial cytoplasmic inclusions of filamentous α-synuclein, and neuronal loss in autonomic centres, basal ganglia and cerebellar circuits. It has been suggested that primary oligodendroglial α-synucleinopathy may represent a trigger in the pathogenesis of MSA, but the mechanisms underlying selective vulnerability and disease progression are unclear. The post-mortem analysis of MSA brains provides a static final picture of the disease neuropathology, but gives no clear indication on the sequence of pathogenic events in MSA...
January 3, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29297596/neuropathology-of-autonomic-dysfunction-in-synucleinopathies
#11
REVIEW
Elizabeth A Coon, Jeremy K Cutsforth-Gregory, Eduardo E Benarroch
The synucleinopathies-Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure-result from distinct patterns of abnormal α-synuclein aggregation throughout the nervous system. Autonomic dysfunction in these disorders results from variable involvement of the central and peripheral autonomic networks. The major pathologic hallmark of Parkinson's disease and dementia with Lewy bodies is Lewy bodies and Lewy neurites; of multiple system atrophy, oligodendroglial cytoplasmic inclusions; and of pure autonomic failure, peripheral neuronal cytoplasmic inclusions...
January 3, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29288771/s-allyl-cysteine-regulates-the-tnf%C3%AE-induced-muscle-wasting-by-suppressing-proteolysis-and-regulating-the-inflammatory-molecules-in-skeletal-muscle-myotubes
#12
Vikas Dutt, Vikram Saini, Prachi Gupta, Nirmaljeet Kaur, Manju Bala, Ravindra Gujar, Anita Grewal, Sanjeev Gupta, Anita Dua, Ashwani Mittal
BACKGROUND: Elevated levels of inflammatory molecules are the key players in muscle wasting/atrophy leading to human morbidity. TNFα is a well-known pro-inflammatory cytokine implicated in the pathogenesis of muscle wasting under diverse clinical settings. S-allyl cysteine (SAC), an active component of garlic (Allium sativum), has established anti-oxidant and anti-inflammatory effects in various cell types. However, the impact of SAC on skeletal muscle pathology remains unexplored. Owing to the known anti-inflammatory properties of SAC, we investigate whether pre-treatment with SAC has a protective role in TNFα induced atrophy in cultured myotubes...
December 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29287113/diffusion-weighted-mri-distinguishes-parkinson-disease-from-the-parkinsonian-variant-of-multiple-system-atrophy-a-systematic-review-and-meta-analysis
#13
Sweta Bajaj, Florian Krismer, Jose-Alberto Palma, Gregor K Wenning, Horacio Kaufmann, Werner Poewe, Klaus Seppi
BACKGROUND: Putaminal diffusivity in brain magnetic resonance diffusion-weighted imaging (DWI) is increased in patients with the parkinsonian variant of multiple system atrophy (MSA-P) compared to Parkinson disease (PD) patients. PURPOSE: We performed a systematic review and meta-analysis to evaluate the diagnostic accuracy of DWI to distinguish MSA-P from PD. METHODS: Studies on DWI were identified through a systematic PubMed and Clarivate Analytics® Web of Science® Core Collection search...
2017: PloS One
https://www.readbyqxmd.com/read/29279394/familial-parkinson-s-point-mutation-abolishes-multiple-system-atrophy-prion-replication
#14
Amanda L Woerman, Sabeen A Kazmi, Smita Patel, Atsushi Aoyagi, Abby Oehler, Kartika Widjaja, Daniel A Mordes, Steven H Olson, Stanley B Prusiner
In the neurodegenerative disease multiple system atrophy (MSA), α-synuclein misfolds into a self-templating conformation to become a prion. To compare the biological activity of α-synuclein prions in MSA and Parkinson's disease (PD), we developed nine α-synuclein-YFP cell lines expressing point mutations responsible for inherited PD. MSA prions robustly infected wild-type, A30P, and A53T α-synuclein-YFP cells, but they were unable to replicate in cells expressing the E46K mutation. Coexpression of the A53T and E46K mutations was unable to rescue MSA prion infection in vitro, establishing that MSA α-synuclein prions are conformationally distinct from the misfolded α-synuclein in PD patients...
December 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29279191/mr-findings-in-the-substantia-nigra-on-phase-difference-enhanced-imaging-in-neurodegenerative-parkinsonism
#15
Atsuhiko Sugiyama, Noriko Sato, Yukio Kimura, Miho Ota, Tomoko Maekawa, Daichi Sone, Mikako Enokizono, Miho Murata, Hiroshi Matsuda, Satoshi Kuwabara
INTRODUCTION: In Parkinson's disease (PD) patients, magnetic resonance (MR) imaging studies using phase difference enhanced imaging (PADRE) and susceptibility-weighted imaging (SWI) showed the obscuration of the boundary between the crural fibers and substantia nigra, and the absence of dorsolateral nigral hyperintensity, respectively. PADRE images have not been evaluated in other types of neurodegenerative parkinsonism, and PADRE and SWI images have not been compared. Here we evaluated PADRE and SWI images in patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA), or PD and controls, and we compared the diagnostic values...
December 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29273299/-self-intermittent-catheterization-and-urinary-retentions-in-parkinsonian-syndromes
#16
E Savard, A Declemy, V Coindreau, F Babany, C Chesnel, A Charlanes, F Le Breton, G Amarenco
INTRODUCTION: Lower urinary tract symptoms are common in Parkinson diseases, especially chronic urinary retention. In case of significant and symptomatic postvoid residual, a specific treatment is necessary in order to empty the bladder and nowadays the gold standard of such neurogenic bladder is based on self-intermittent-catheterizations, if possible at all. We carried out a retrospective study about feasibility and outcomes of self-intermittent-catheterizations in this population. METHODS: Retrospective study with qualitative and quantitative, clinical and instrumental (urodynamic) assessment, of lower urinary tract symptoms as urinary retention in extrapyramidal syndromes...
December 19, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/29260007/sleep-apnea-in-multiple-system-atrophy-of-cerebellar-type-a-3-0-t-mrs-volumetry-pilot-study
#17
Y Takado, K Terajima, T Shimohata, H Nakayama, M Watanabe, K Okamoto, T Ozawa, M Nishizawa, I L Kwee, H Igarashi, T Nakada
No abstract text is available yet for this article.
March 2017: ENeurologicalSci
https://www.readbyqxmd.com/read/29251119/association-of-tnf-%C3%AE-rs1799964-and-il-1%C3%AE-rs16944-polymorphisms-with-multiple-system-atrophy-in-chinese-han-population
#18
Xin Zhou, Chunrong Wang, Zhao Chen, Yun Peng, Huirong Peng, Xuan Hou, Wei Ye, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang
BACKGROUND: Recent evidence suggested that several single nucleotide polymorphisms (SNPs) of inflammation-related genes (TNF-α rs1799964, IL-1α rs1800587, IL-1β rs16944, IL-8 rs4073, ICAM-1 rs5498) were associated with multiple system atrophy (MSA). Herein, we conducted this case-control study to evaluate the possible correlation between the five SNPs related to inflammatory and MSA in Chinese Han population. METHODS AND PATIENTS: We recruited 154 sporadic patients with MSA and 223 health controls in this study...
December 18, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29249575/combined-cardiovascular-and-sweating-autonomic-testing-to-differentiate-multiple-system-atrophy-from-parkinson-s-disease
#19
Anne Pavy-LeTraon, Christine Brefel-Courbon, Julia Dupouy, Fabienne Ory-Magne, Olivier Rascol, Jean-Michel Senard
OBJECTIVES: It can be difficult to differentiate multiple system atrophy (MSA) with predominant parkinsonism (MSA-P), a very disabling but rare disease, from Parkinson's disease (PD). Autonomic dysfunction, particularly cardiovascular autonomic neuropathy (CAN), is classically more pronounced in MSA. We investigated whether testing for CAN combined with sweat function assessment was helpful to differentiate patients with MSA from those with PD. METHODS: In this retrospective study, 62 patients with MSA-P and 96 with PD, comparable in age, BMI and sex ratio with disease duration of 4...
December 14, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29249373/idiopathic-cerebellar-ataxia-idca-diagnostic-criteria-and-clinical-analyses-of-63-japanese-patients
#20
Kunihiro Yoshida, Satoshi Kuwabara, Katsuya Nakamura, Ryuta Abe, Akira Matsushima, Minako Beppu, Yoshitaka Yamanaka, Yuji Takahashi, Hidenao Sasaki, Hidehiro Mizusawa
Cortical cerebellar atrophy (CCA) and multiple system atrophy with predominant cerebellar ataxia (MSA-C) are the two major forms of adult-onset sporadic ataxia. Contrary to MSA-C, there are neither diagnostic criteria nor neuroimaging features pathognomonic for CCA. Therefore, it is assumed that the category of CCA in the Japanese national registry include heterogeneous cerebellar ataxic disorders. To refine this category in more detail, we here used a clinical-based term, "idiopathic cerebellar ataxia (IDCA)", and proposed its diagnostic criteria...
January 15, 2018: Journal of the Neurological Sciences
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