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https://www.readbyqxmd.com/read/30326945/abi3-and-plcg2-missense-variants-as-risk-factors-for-neurodegenerative-diseases-in-caucasians-and-african-americans
#1
Olivia J Conway, Minerva M Carrasquillo, Xue Wang, Jenny M Bredenberg, Joseph S Reddy, Samantha L Strickland, Curtis S Younkin, Jeremy D Burgess, Mariet Allen, Sarah J Lincoln, Thuy Nguyen, Kimberly G Malphrus, Alexandra I Soto, Ronald L Walton, Bradley F Boeve, Ronald C Petersen, John A Lucas, Tanis J Ferman, William P Cheshire, Jay A van Gerpen, Ryan J Uitti, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, Neill R Graff-Radford, Nilüfer Ertekin-Taner
BACKGROUND: Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer's disease (AD). METHODS: We tested the association of these variants with five neurodegenerative diseases in Caucasian case-control cohorts: 2742 AD, 231 progressive supranuclear palsy (PSP), 838 Parkinson's disease (PD), 306 dementia with Lewy bodies (DLB) and 150 multiple system atrophy (MSA) vs. 3351 controls; and in an African-American AD case-control cohort (181 AD, 331 controls)...
October 11, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/30324423/myocardial-mibg-scintigraphy-in-genetic-parkinson-s-disease-as-a-model-for-lewy-body-disorders
#2
Iñigo Gabilondo, Verónica Llorens, Trinidad Rodriguez, Manuel Fernández, Tomas Pérez Concha, Marian Acera, Beatriz Tijero, Ane Murueta-Goyena, Rocío Del Pino, Jesús Cortés, Juan Carlos Gómez-Esteban
PURPOSE: To identify myocardial sympathetic denervation patterns suggestive of Lewy body (LB) pathology in patients with genetic and idiopathic parkinsonisms by 123 I-metaiodobenzylguanidine (MIBG) scintigraphy. METHODS: We retrospectively analysed myocardial MIBG images acquired with a dual-head gamma camera and low-energy high-resolution collimator (LEHR) in 194 patients with suspected synucleinopathy or atypical parkinsonism, including 34 with genetic Parkinson's disease (PD; 4 PARK1, 8 PARK2 and 22 PARK8), 85 with idiopathic PD (iPD), 6 with idiopathic REM sleep behaviour disorder (iRBD), 17 with dementia with LB (DLB), 40 with multiple system atrophy (MSA) and 12 with progressive supranuclear palsy (PSP), and in 45 healthy controls...
October 15, 2018: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/30323786/neuroimaging-of-sleep-disturbances-in-movement-disorders
#3
REVIEW
Tayyabah Yousaf, Gennaro Pagano, Heather Wilson, Marios Politis
Sleep dysfunction is recognized as a distinct clinical manifestation in movement disorders, often reported early on in the disease course. Excessive daytime sleepiness, rapid eye movement sleep behavior disorder and restless leg syndrome, amidst several others, are common sleep disturbances that often result in significant morbidity. In this article, we review the spectrum of sleep abnormalities across atypical Parkinsonian disorders including multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS), as well as Parkinson's disease (PD) and Huntington's disease (HD)...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/30314846/progress-in-the-treatment-of-parkinson-plus-syndromes
#4
Nahid Olfati, Ali Shoeibi, Irene Litvan
Progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), multiple system atrophy (MSA), and dementia with Lewy bodies (DLB) are the four major proteinopathic neurodegenerative disorders. Currently, there are no disease modifying therapies for these disorders. However, better understanding of the etiopathogenic mechanisms of these disorders has allowed the development of novel therapeutic approaches. These mainly include strategies directed to the pathologic conformational shift, seeding and aggregation, as well as transcellular spread of the proteins that aggregate in the brain which are α-synuclein and tau...
October 3, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30304480/regulation-of-muscle-atrophy-related-genes-by-the-opposing-transcriptional-activities-of-zeb1-ctbp-and-foxo3
#5
Chiara Ninfali, Laura Siles, Douglas S Darling, Antonio Postigo
Multiple physiopathological and clinical conditions trigger skeletal muscle atrophy through the induction of a group of proteins (atrogenes) that includes components of the ubiquitin-proteasome and autophagy-lysosomal systems. Atrogenes are induced by FOXO transcription factors, but their regulation is still not fully understood. Here, we showed that the transcription factor ZEB1, best known for promoting tumor progression, inhibits muscle atrophy and atrogene expression by antagonizing FOXO3-mediated induction of atrogenes...
October 10, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/30302924/imaging-phenotype-of-multiple-mitochondrial-dysfunction-syndrome-2-a-rare-bola3-associated-leukodystrophy
#6
Rahul M Nikam, Karen W Gripp, Arabinda K Choudhary, Vinay Kandula
Multiple mitochondrial dysfunction syndrome (MMDS) is a rare disorder of systemic energy metabolism associated with mutations in genes having a vital role in production of iron-sulfur clusters, important for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases and for the assembly of the mitochondrial respiratory chain complexes. MMDS 2 associated with BOLA3 mutation presents in early infancy and is characterized by developmental regression, severe encephalopathy, optic atrophy, and cardiomyopathy...
October 10, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30295793/nlrp3-inflammasome-related-proteins-are-upregulated-in-the-putamen-of-patients-with-multiple-system-atrophy
#7
Fangzhou Li, Takashi Ayaki, Takakuni Maki, Nobukatsu Sawamoto, Ryosuke Takahashi
Multiple system atrophy (MSA) is a neurodegenerative disease characterized by parkinsonism, ataxia, and autonomic dysfunction. Microglial infiltration is an important mediator in MSA. The nucleotide-binding domain, leucine-rich repeats-containing family, pyrin domain-containing-3 (NLRP3) inflammasome complex, comprising NLRP3, apoptotic speck protein containing a caspase recruitment domain (ASC), and cysteine aspartic acid protease 1 (Caspase 1), regulates microglial inflammation in several neurodegenerative diseases...
November 1, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/30294976/available-and-future-treatments-for-atypical-parkinsonism-a-systematic-review
#8
REVIEW
Davide Vito Moretti
AIMS: Success in treating patients with atypical parkinsonian syndromes, namely progressive supranuclear palsy (PSP), cortico-basal degeneration (CBD), multiple system atrophy (MSA), Parkinson's disease with dementia (PDD), and Lewy body dementia with (LBD), remains exceedingly low. The present work overviews the most influential research literature collected on MEDLINE, ISI Web of Science, Cochrane Library, and Scopus for available treatment in atypical parkinsonisms without time restriction...
October 7, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/30279741/mri-and-histological-evaluation-of-pulsed-focused-ultrasound-and-microbubbles-treatment-effects-in-the-brain
#9
Zsofia I Kovacs, Tsang-Wei Tu, Maggie Sundby, Farhan Qureshi, Bobbi K Lewis, Neekita Jikaria, Scott R Burks, Joseph A Frank
Magnetic resonance imaging (MRI)-guided pulsed focused ultrasound (pFUS) combined with microbubbles (MB) contrast agent infusion has been shown to transiently disrupt the blood-brain barrier (BBBD), increasing the delivery of neurotherapeutics to treat central nervous system (CNS) diseases. pFUS interaction with the intravascular MB results in acoustic cavitation forces passing through the neurovascular unit (NVU), inducing BBBD detected on contrast-enhanced MRI. Multiple pFUS+MB exposures in Alzheimer's disease (AD) models are being investigated as a method to clear amyloid plaques by activated microglia or infiltrating immune cells...
2018: Theranostics
https://www.readbyqxmd.com/read/30275744/role-of-neuroimaging-on-differentiation-of-parkinson-s-disease-and-its-related-diseases
#10
REVIEW
Toshihide Ogawa, Shinya Fujii, Keita Kuya, Shin-Ichiro Kitao, Yuki Shinohara, Mana Ishibashi, Yoshio Tanabe
An accurate diagnosis of Parkinson's disease (PD) is a prerequisite for therapeutic management. In spite of recent advances in the diagnosis of parkinsonian disorders, PD is misdiagnosed in between 6 and 25% of patients, even in specialized movement disorder centers. Although the gold standard for the diagnosis of PD is a neuropathological assessment, neuroimaging has been playing an important role in the differential diagnosis of PD and is used for clinical diagnostic criteria. In clinical practice, differential diagnoses of PD include atypical parkinsonian syndromes such as dementia with Lewy bodies, multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration, caused by a striatal dopamine deficiency following nigrostrial degeneration...
September 2018: Yonago Acta Medica
https://www.readbyqxmd.com/read/30274199/ocular-manifestations-of-emerging-flaviviruses-and-the-blood-retinal-barrier
#11
REVIEW
Sneha Singh, Ashok Kumar
Despite flaviviruses remaining the leading cause of systemic human infections worldwide, ocular manifestations of these mosquito-transmitted viruses are considered relatively uncommon in part due to under-reporting. However, recent outbreaks of Zika virus (ZIKV) implicated in causing multiple ocular abnormalities, such as conjunctivitis, retinal hemorrhages, chorioretinal atrophy, posterior uveitis, optic neuritis, and maculopathies, has rejuvenated a significant interest in understanding the pathogenesis of flaviviruses, including ZIKV, in the eye...
September 28, 2018: Viruses
https://www.readbyqxmd.com/read/30267647/tigar-inclusion-pathology-is-specific-for-lewy-body-diseases
#12
Karla L Robles López, Julie E Simpson, Lisa C Watson, Heather Mortiboys, Guillaume M Hautbergue, Oliver Bandmann, J Robin Highley
BACKGROUND: We previously reported up-regulation of tigarb (the zebrafish orthologue? of human TIGAR, TP53 -Induced Glycolysis and Apoptosis Regulator) in a zebrafish pink1-/- model of Parkinson's disease (PD). Genetic inactivation of tigarb led to the rescue of dopaminergic neurons and mitochondrial function in pink-/- zebrafish. The aim of this study was to determine the relevance of TIGAR for human PD, investigate its disease specificity and identify relevant upstream and downstream mechanisms...
September 26, 2018: Brain Research
https://www.readbyqxmd.com/read/30266299/comparison-of-gait-parameters-between-drug-na%C3%A3-ve-patients-diagnosed-with-multiple-system-atrophy-with-predominant-parkinsonism-and-parkinson-s-disease
#13
Boo Suk Na, Jongmok Ha, Ji-Hyung Park, Jong Hyeon Ahn, Minkyeong Kim, Ji Sun Kim, Hee-Tae Kim, Jin Whan Cho, Jinyoung Youn
INTRODUCTION: Even though gait symptoms are prominent in patients diagnosed with multiple system atrophy with predominant parkinsonism (MSA-P) compared with Parkinson's disease (PD), the gait patterns of MSA-P were not clearly elucidated. We investigated postural instability and gait disturbances in MSA-P compared with PD. METHODS: We enrolled 34 drug-naïve patients with PD and 26 with MSA-P, and 18 normal controls in this study. Parkinsonism was evaluated by the Unified Parkinson's disease rating scale (UPDRS) part 3 and cognition was assessed with mini-mental status exam (MMSE)...
September 17, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/30254015/mitochondrial-dysfunction-in-fibroblasts-of-multiple-system-atrophy
#14
Giacomo Monzio Compagnoni, Giulio Kleiner, Andreina Bordoni, Francesco Fortunato, Dario Ronchi, Sabrina Salani, Marianna Guida, Corrado Corti, Irene Pichler, Christian Bergamini, Romana Fato, Maria Teresa Pellecchia, Annamaria Vallelunga, Francesca Del Sorbo, Antonio Elia, Chiara Reale, Barbara Garavaglia, Gabriele Mora, Alberto Albanese, Filippo Cogiamanian, Gianluca Ardolino, Nereo Bresolin, Stefania Corti, Giacomo P Comi, Catarina M Quinzii, Alessio Di Fonzo
Multiple System Atrophy is a severe neurodegenerative disorder which is characterized by a variable clinical presentation and a broad neuropathological spectrum. The pathogenic mechanisms are almost completely unknown. In the present study, we established a cellular model of MSA by using fibroblasts' primary cultures and performed several experiments to investigate the causative mechanisms of the disease, with a particular focus on mitochondrial functioning. Fibroblasts' analyses (7 MSA-P, 7 MSA-C and 6 healthy controls) displayed several anomalies in patients: an impairment of respiratory chain activity, in particular for succinate Coenzyme Q reductase (p < 0...
September 19, 2018: Biochimica et biophysica acta. Molecular basis of disease
https://www.readbyqxmd.com/read/30250046/skin-%C3%AE-synuclein-deposits-differ-in-clinical-variants-of-synucleinopathy-an-in-vivo-study
#15
V Donadio, A Incensi, O El-Agnaf, G Rizzo, N Vaikath, F Del Sorbo, C Scaglione, S Capellari, A Elia, M Stanzani Maserati, R Pantieri, R Liguori
We aimed to characterize in vivo α-synuclein (α-syn) aggregates in skin nerves to ascertain: 1) the optimal marker to identify them; 2) possible differences between synucleinopathies that may justify the clinical variability. We studied multiple skin nerve α-syn deposits in 44 patients with synucleinopathy: 15 idiopathic Parkinson's disease (IPD), 12 dementia with Lewy Bodies (DLB), 5 pure autonomic failure (PAF) and 12 multiple system atrophy (MSA). Ten healthy subjects were used as controls. Antibodies against native α-syn, C-terminal α-syn epitopes such as phosphorylation at serine 129 (p-syn) and to conformation-specific for α-syn mature amyloid fibrils (syn-F1) were used...
September 24, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30243884/elevated-microrna-520d-5p-in-the-serum-of-patients-with-parkinson-s-disease-possibly-through-regulation-of-cereloplasmin-expression
#16
Lirong Jin, Wenbin Wan, Lingyan Wang, Changpeng Wang, Jianqiu Xiao, Feng Zhang, Jue Zhao, Jian Wang, Cheng Zhan, Chunjiu Zhong
Iron metabolism dysfunction and redox-active iron-induced oxidative stress in the brain may contribute to the pathogenesis of Parkinson's disease. We have previously demonstrated that reduced serum ceruloplasmin level exacerbates nigral iron deposition in Parkinson's disease, although the underlying cause of the low serum ceruloplasmin level in Parkinson's disease remains unknown. Fluorescent quantitative real-time polymerase chain reaction analysis revealed that patients with Parkinson's disease had higher serum levels of microRNA (miR)-520d-5p than controls (p = 0...
September 20, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/30242715/measuring-the-overall-rate-of-protein-breakdown-in-cells-and-the-contributions-of-the-ubiquitin-proteasome-and-autophagy-lysosomal-pathways
#17
Zhe Sha, Jinghui Zhao, Alfred L Goldberg
In certain physiological or pathological states (e.g., starvation, heat shock, or muscle atrophy) and upon drug treatments, the overall rate of protein degradation in cells may increase or decrease. These adaptations and pathological responses can occur through alterations in substrate flux through the ubiquitin-proteasome pathway (UPP), the autophagy-lysosomal system, or both. Therefore, it is important to precisely measure the activities of these degradation pathways in degrading cell proteins under different physiological states or upon treatment with drugs...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/30242188/the-pathogenesis-linked-to-coenzyme-q10-insufficiency-in-ipsc-derived-neurons-from-patients-with-multiple-system-atrophy
#18
Fumiko Kusunoki Nakamoto, Satoshi Okamoto, Jun Mitsui, Takefumi Sone, Mitsuru Ishikawa, Yorihiro Yamamoto, Yumi Kanegae, Yuhki Nakatake, Kent Imaizumi, Hiroyuki Ishiura, Shoji Tsuji, Hideyuki Okano
Multiple-system atrophy (MSA) is a neurodegenerative disease characterized by autonomic failure with various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. We previously reported that functionally impaired variants of COQ2, which encodes an essential enzyme in the biosynthetic pathway of coenzyme Q10, are associated with MSA. Here, we report functional deficiencies in mitochondrial respiration and the antioxidative system in induced pluripotent stem cell (iPSC)-derived neurons from an MSA patient with compound heterozygous COQ2 mutations...
September 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30238268/prevalence-of-pain-in-atypical-parkinsonism-a-systematic-review-and-meta-analysis
#19
REVIEW
Abdul Qayyum Rana, Abdul Rehman Qureshi, Omer Siddiqui, Zainab Sarfraz, Ruqqiyah Rana, Alexander Shtilbans
Pain is common in atypical parkinsonism such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and dementia with Lewy bodies (LBD). In this study, a systematic review and meta-analysis was conducted and peer-reviewed literature was searched to determine the prevalence and types of pain in four atypical parkinsonism syndromes: MSA, PSP, CBD and LBD. The results show that pain was prevalent mainly in MSA patients in comparison to PSP and CBD patients. Pain was reported at an early stage and was found in females, with limb pain being the most common, followed by neck and back pain...
September 20, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/30232253/supine-plasma-ne-predicts-the-pressor-response-to-droxidopa-in-neurogenic-orthostatic-hypotension
#20
Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Jose Martinez, Horacio Kaufmann
OBJECTIVE: To test whether the plasma levels of norepinephrine (NE) in patients with neurogenic orthostatic hypotension (nOH) predict their pressor response to droxidopa. METHODS: This was an observational study, which included patients with nOH. All patients had standardized autonomic function testing including determination of venous plasma catecholamine levels drawn through an indwelling catheter while resting supine. This was followed by a droxidopa titration with 100 mg increments in successive days until relief of symptoms, side effects, or the maximum dose of 600 mg was reached...
October 16, 2018: Neurology
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