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https://www.readbyqxmd.com/read/27913285/autosomal-recessive-spinocerebellar-ataxia-20-report-of-a-new-patient-and-review-of-literature
#1
Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K Neethukrishna, Stephanie Bielas, K M Girisha
Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias...
November 29, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27911668/association-of-5-hydroxymethylation-and-5-methylation-of-dna-cytosine-with-tissue-specific-gene-expression
#2
V K Chaithanya Ponnaluri, Kenneth C Ehrlich, Guoqiang Zhang, Michelle Lacey, Douglas Johnston, Sriharsa Pradhan, Melanie Ehrlich
Differentially methylated or hydroxymethylated regions (DMRs) in mammalian DNA are often associated with tissue-specific gene expression but the functional relationships are still being unraveled. To elucidate these relationships, we studied 16 human genes containing myogenic DMRs by analyzing profiles of their epigenetics and transcription and quantitatively assaying 5-hydroxymethylcytosine (5 hmC) and 5-methylcytosine (5 mC) at specific sites in these genes in skeletal muscle (SkM), myoblasts, heart, brain, and diverse other samples...
December 2, 2016: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/27911301/tau-platelets-correlate-with-regional-brain%C3%A2-atrophy-in-patients-with-alzheimer-s%C3%A2-disease
#3
Andrea Slachevsky, Leonardo Guzmán-Martínez, Carolina Delgado, Pablo Reyes, Gonzalo A Farías, Carlos Muñoz-Neira, Eduardo Bravo, Mauricio Farías, Patricia Flores, Cristian Garrido, James T Becker, Oscar L López, Ricardo B Maccioni
BACKGROUND: Intracellular neurofibrillary tangles are part of the core pathology of Alzheimer's disease (AD), which are mainly composed of hyperphosphorylated tau protein. OBJECTIVES: The purpose of this study is to determine whether high molecular weight (HMW) or low molecular weight (LMW) tau protein levels, as well as the ratio HMW/LMW, present in platelets correlates with brain magnetic resonance imaging (MRI) structural changes in normal and cognitively impaired subjects...
November 26, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27911020/changes-in-resting-state-connectivity-in-musicians-with-embouchure-dystonia
#4
Bernhard Haslinger, Jonas Noé, Eckart Altenmüller, Valentin Riedl, Claus Zimmer, Tobias Mantel, Christian Dresel
OBJECTIVE: Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. METHODS: We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27908421/low-magnesium-diet-alters-distribution-of-macroelements-and-trace-elements-in-tissues-and-organs-of-female-rats
#5
Anastasia A Zheltova, Maria V Kharitonova, Igor N Iezhitsa, Eugeny P Serebryansky, Oleg Y Evsyukov, Alexander A Spasov, Anatoly V Skalny
The aim of the present study was to assess whether dietary magnesium deficiency can alter distribution of macroelements and trace elements in different organs and tissues. Experiments were carried out on 12 adult female Wistar rats, which were fed either a diet with low Mg content (≤20mgkg(-1) of diet) (LMgD) or a diet with daily recommended Mg content (≈500mgkg(-1)) as control group (CG) for 70 days. On the 70th day of the experiment heart, aorta, femoral skeletal muscle, forebrain, cerebellum, pituitary gland, thyroid gland, ovaries, uterus, liver, kidneys, and spleen were taken for analysis of mineral content...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27907119/gray-matter-hypoxia-in-the-brain-of-the-experimental-autoimmune-encephalomyelitis-model-of-multiple-sclerosis
#6
Thomas W Johnson, Ying Wu, Nabeela Nathoo, James A Rogers, V Wee Yong, Jeff F Dunn
BACKGROUND: Multiple sclerosis (MS) has a significant inflammatory component and may have significant gray matter (GM) pathophysiology. Brain oxygenation is a sensitive measurement of the balance between metabolic need and oxygen delivery. There is evidence that inflammation and hypoxia are interdependent. In this paper, we applied novel, implanted PO2 sensors to measure hypoxia in cortical and cerebellar GM, in an inflammation-induced mouse model of MS. OBJECTIVE: Quantify oxygenation in cortical and cerebellar GM in the awake, unrestrained experimental autoimmune encephalomyelitis (EAE) mouse model and to relate the results to symptom level and disease time-course...
2016: PloS One
https://www.readbyqxmd.com/read/27905410/association-between-preterm-brain-injury-and-exposure-to-chorioamnionitis-during-fetal-life
#7
Devasuda Anblagan, Rozalia Pataky, Margaret J Evans, Emma J Telford, Ahmed Serag, Sarah Sparrow, Chinthika Piyasena, Scott I Semple, Alastair Graham Wilkinson, Mark E Bastin, James P Boardman
Preterm infants are susceptible to inflammation-induced white matter injury but the exposures that lead to this are uncertain. Histologic chorioamnionitis (HCA) reflects intrauterine inflammation, can trigger a fetal inflammatory response, and is closely associated with premature birth. In a cohort of 90 preterm infants with detailed placental histology and neonatal brain magnetic resonance imaging (MRI) data at term equivalent age, we used Tract-based Spatial Statistics (TBSS) to perform voxel-wise statistical comparison of fractional anisotropy (FA) data and computational morphometry analysis to compute the volumes of whole brain, tissue compartments and cerebrospinal fluid, to test the hypothesis that HCA is an independent antenatal risk factor for preterm brain injury...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905365/-gait-disorders-and-postural-instability-in-patients-with-an-essential-tremor
#8
S V Vasichkin, O S Levin
AIM: To study gait disorders and postural instability in patients with essential tremor (ET). MATERIAL AND METHODS: Forty patients with ET, aged from 29 to 82 years, (mean 64.2±13.0) were examined. Tandem walk, tremor, stability and stabilometry were studied. RESULTS AND CONCLUSION: A half of the patients had gait disorders and postural instability. Though these disorders were mild to moderate, they caused significant subjective discomfort and influenced quality of life...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27904950/age-dependent-alpha-synuclein-accumulation-is-correlated-with-elevation-of-mitochondrial-trpc3-in-the-brains-of-monkeys-and-mice
#9
Min Chen, Jia Liu, Yongquan Lu, Chunli Duan, Lingling Lu, Ge Gao, Piu Chan, Shun Yu, Hui Yang
Aberrant α-synuclein (α-syn) accumulation has been shown to impair mitochondrial function by reducing mitochondrial membrane potential (MMP). However, the underlying mechanisms remain elusive. Transient receptor potential canonical (TRPC) channels are a diverse group of non-selective Ca(2+) channels, among which TRPC3 is the only one that is localized in mitochondria and plays a role in maintaining the normal MMP. This raises a possibility that altered TRPC3 expression may play a role in the mitochondrial dysfunction induced by α-syn accumulation...
November 30, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27904123/posterior-reversible-encephalopathy-syndrome-with-extensive-deep-white-matter-lesions-including-the-temporal-pole
#10
Junichiro Ohira, Nobuyuki Mori, Shunsuke Kajikawa, Takeshi Nakamura, Tetsuya Arisato, Makio Takahashi
Posterior reversible encephalopathy syndrome (PRES) typically affects the posterior subcortical white matter. We report the case of a 55-year-old man with atypical PRES, who had malignant hypertension and renal dysfunction. Magnetic resonance imaging of the brain revealed extensive vasogenic edema in the deep white matter including the temporal pole, as well as in the brainstem and cerebellum. Antihypertensive therapy and hemodialysis contributed to both clinical and radiological improvement. Involvement of the deep white matter including the temporal pole, which is rarely affected in an ischemic stroke, should be recognized as a potential sign of PRES...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27903878/a-spiking-neural-model-of-adaptive-arm-control
#11
Travis DeWolf, Terrence C Stewart, Jean-Jacques Slotine, Chris Eliasmith
We present a spiking neuron model of the motor cortices and cerebellum of the motor control system. The model consists of anatomically organized spiking neurons encompassing premotor, primary motor, and cerebellar cortices. The model proposes novel neural computations within these areas to control a nonlinear three-link arm model that can adapt to unknown changes in arm dynamics and kinematic structure. We demonstrate the mathematical stability of both forms of adaptation, suggesting that this is a robust approach for common biological problems of changing body size (e...
November 30, 2016: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/27903723/cerebellar-shank2-regulates-excitatory-synapse-density-motor-coordination-and-specific-repetitive-and-anxiety-like-behaviors
#12
Seungmin Ha, Dongwon Lee, Yi Sul Cho, Changuk Chung, Ye-Eun Yoo, Jihye Kim, Jiseok Lee, Woohyun Kim, Hyosang Kim, Yong Chul Bae, Keiko Tanaka-Yamamoto, Eunjoon Kim
: Shank2 is a multidomain scaffolding protein implicated in the structural and functional coordination of multiprotein complexes at excitatory postsynaptic sites as well as in psychiatric disorders, including autism spectrum disorders. While Shank2 is strongly expressed in the cerebellum, whether Shank2 regulates cerebellar excitatory synapses, or contributes to the behavioral abnormalities observed in Shank2(-/-) mice, remains unexplored. Here we show that Shank2(-/-) mice show reduced excitatory synapse density in cerebellar Purkinje cells in association with reduced levels of excitatory postsynaptic proteins, including GluD2 and PSD-93, and impaired motor coordination in the Erasmus test...
November 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27902863/evaluation-of-recurrent-high-grade-gliomas-treated-with-bevacizumab-a-preliminary-report-of-3d-pseudocontinuous-artery-spin-labeling
#13
Yuelei Lyu, Shuai Liu, Hui You, Bo Hou, Yu Wang, Wenbin Ma, Feng Feng
PURPOSE: To investigate the role of cerebral blood flow (CBF) derived from a 3D fast spin echo (FSE) pseudocontinuous artery spin labeling (pcASL) sequence in evaluating the survival rate of recurrent high-grade gliomas (rHGGs) that were treated with bevacizumab (BEV). MATERIALS AND METHODS: Sixteen patients with rHGGs who underwent 3T 3D FSE pcASL imaging 1-2 days before (baseline or pre-BEV) and within 1 month after BEV treatment initiation (post-BEV) were included in the study...
November 30, 2016: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/27901587/changes-in-functional-connectivity-of-the-brain-associated-with-a-history-of-sport-concussion-a-preliminary-investigation
#14
Nathan Churchill, Michael G Hutchison, General Leung, Simon Graham, Tom A Schweizer
OBJECTIVE: There is evidence of long-term clinical consequences associated with a history of sport concussion. However, there remains limited information about the underlying changes in brain function. The goal of this study was to identify brain regions where abnormal resting-state function is associated with chronic concussion, for athletes without persistent symptoms. METHODS: Functional Magnetic Resonance Imaging (fMRI) was performed on a group of athletes with prior concussion (n = 22) and a group without documented injury (n = 21)...
November 30, 2016: Brain Injury: [BI]
https://www.readbyqxmd.com/read/27901474/cerebellar-neurochemical-and-histopathological-changes-in-rat-model-of-parkinson-s-disease-induced-by-intrastriatal-injection-of-rotenone
#15
Yasser A Khadrawy, Iman M Mourad, Haitham S Mohammed, Neveen A Noor, Heba S Aboul Ezz
The aim of the present work was to investigate the neurochemical changes induced in the cerebellum of rat model of Parkinson's disease (PD). Rats were divided into two groups; control and rat model of PD induced by the intrastriatal injection of rotenone. As compared to control, a significant increase in the excitatory amino acid neurotransmitters; glutamate and aspartate together with a significant decrease in the inhibitory amino acids, GABA, glycine and taurine were observed in the cerebellum of rat model of PD...
November 30, 2016: General Physiology and Biophysics
https://www.readbyqxmd.com/read/27900678/a-customized-quantitative-pcr-microrna-panel-provides-a-technically-robust-context-for-studying-neurodegenerative-disease-biomarkers-and-indicates-a-high-correlation-between-cerebrospinal-fluid-and-choroid-plexus-microrna-expression
#16
Wang-Xia Wang, David W Fardo, Gregory A Jicha, Peter T Nelson
MicroRNA (miRNA) expression varies in association with different tissue types and in diseases. Having been found in body fluids including blood and cerebrospinal fluid (CSF), miRNAs constitute potential biomarkers. CSF miRNAs have been proposed as biomarkers for neurodegenerative diseases; however, there is a lack of consensus about the best candidate miRNA biomarkers and there has been variability in results from different research centers, perhaps due to technical factors. Here, we sought to optimize technical parameters for CSF miRNA studies...
November 29, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27900365/genome-sequencing-in-a-case-of-niemann-pick-type-c
#17
Max Dougherty, John Lazar, Jason C Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson, Gregory Olson, Sanjay Srivatsan, Jay Shendure, C Dirk Keene, Thomas Bird, Marshall S Horwitz, Desiree A Marshall
Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33 when he presented with a 10-yr history of difficulties in judgment, concentration, speech, and coordination. A history of transient neonatal jaundice and splenomegaly with bone marrow biopsy suggesting a lipid storage disorder pointed to NPC; biochemical ("variant" level cholesterol esterification) and ultrastructural studies in adulthood confirmed the diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27898603/an-ultra-high-field-study-of-cerebellar-pathology-in-early-relapsing-remitting-multiple-sclerosis-using-mp2rage
#18
Mário João Fartaria, Kieran OʼBrien, Alexandra Şorega, Guillaume Bonnier, Alexis Roche, Pavel Falkovskiy, Gunnar Krueger, Tobias Kober, Meritxell Bach Cuadra, Cristina Granziera
OBJECTIVES: The aim of this study was to study focal cerebellar pathology in early stages of multiple sclerosis (MS) using ultra-high-field magnetization-prepared 2 inversion-contrast rapid gradient-echo (7T MP2RAGE). MATERIALS AND METHODS: Twenty early-stage relapsing-remitting MS patients underwent an MP2RAGE acquisition at 7 T magnetic resonance imaging (MRI) (images acquired at 2 different resolutions: 0.58 × 0.58 × 0.58 mm, 7T_0.58, and 0.75 × 0.75 × 0...
November 28, 2016: Investigative Radiology
https://www.readbyqxmd.com/read/27896316/compound-heterozygous-intermediate-mjd-alleles-cause-cerebellar-ataxia-with-sensory-neuropathy
#19
Yuji Takahashi, Masahiro Kanai, Tomoya Taminato, Shoko Watanabe, Chihiro Matsumoto, Toshiyuki Araki, Tomoko Okamoto, Masafumi Ogawa, Miho Murata
Spinocerebellar degeneration (SCD) is a group of disorders characterized by progressive ataxia caused by dysfunction and atrophy of the cerebellum or its projections. Approximately one-third of SCD cases are familial SCD, the majority of which are attributed to CAG triplet repeat expansions including spinocerebellar ataxia (SCA)1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA6, SCA8, SCA12, SCA17, and dentate-rubro-pallido-luysian atrophy (DRPLA). The triplet repeat number of the alleles representing complete penetrance varies among diseases...
February 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27895927/expansion-mosaicism-and-interruption-mechanisms-of-the-cag-repeat-mutation-in-spinocerebellar-ataxia-type-1
#20
REVIEW
Cara Kraus-Perrotta, Sarita Lagalwar
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ataxin-1 gene, characterizing SCA1 as a polyglutamine expansion disease like Huntington's. As with most polyglutamine expansion diseases, SCA1 follows the rules of genetic anticipation: the larger the expansion, the earlier and more rapid the symptoms. Unlike the majority of polyglutamine expansion diseases, the presence of histidine interruptions within the polyglutamine tract of ataxin-1 protein can prevent or mitigate disease...
2016: Cerebellum & Ataxias
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