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Cerebellar dysfunction

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https://www.readbyqxmd.com/read/28439961/involvement-of-the-cerebellum-in-parkinson-s-disease-and-dementia-with-lewy-bodies
#1
K Seidel, M Bouzrou, N Heidemann, R Krüger, L Schöls, Wfa den Dunnen, H-W Korf, U Rüb
Patient brains with Parkinson's disease or Dementia with Lewy bodies show aggregation of alpha-synuclein in pre-cerebellar brainstem structures. Furthermore, patients exhibit resting tremor, unstable gait and impaired balance which may be associated with cerebellar dysfunction. Therefore, we screened the cerebella of 12 patients with alpha-synucleinopathies for neuropathological changes. Cerebellar nuclei and neighboring white matter displayed numerous aggregates, while lobules were mildly affected. Cerebellar aggregation pathology may suggest a prion-like spread originating from affected precerebellar structures and the high homogeneity between patients with Dementia with Lewy bodies and Parkinson's disease shows that both diseases likely belong to the same neuropathological spectrum...
April 25, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28435670/type-1-metabotropic-glutamate-receptor-signaling-in-cerebellar-purkinje-cells-in-health-and-disease
#2
REVIEW
Masanobu Kano, Takaki Watanabe
The cerebellum is a brain structure involved in coordination, control, and learning of movements, as well as certain aspects of cognitive function. Purkinje cells are the sole output neurons from the cerebellar cortex and therefore play crucial roles in the overall function of the cerebellum. The type-1 metabotropic glutamate receptor (mGluR1) is a key "hub" molecule that is critically involved in the regulation of synaptic wiring, excitability, synaptic response, and synaptic plasticity of Purkinje cells. In this review, we aim to highlight how mGluR1 controls these events in Purkinje cells...
2017: F1000Research
https://www.readbyqxmd.com/read/28431605/global-brain-atrophy-and-metabolic-dysfunction-in-lgi1-encephalitis-a-prospective-multimodal-mri-study
#3
Monika Szots, Morten Blaabjerg, Gergely Orsi, Pernille Iversen, Daniel Kondziella, Camilla G Madsen, Ellen Garde, Peter O Magnusson, Peter Barsi, Ferenc Nagy, Hartwig R Siebner, Zsolt Illes
BACKGROUND: Chronic cognitive deficits are frequent in leucin-rich glioma-inactivated 1 protein (LGI1) encephalitis. We examined structural and metabolic brain abnormalities following LGI1 encephalitis and correlated findings with acute and follow-up clinical outcomes. METHODS: Nine patients underwent prospective multimodal 3 Tesla MRI 33.1±18months after disease onset, including automated volumetry, diffusion tensor imaging (DTI) and magnetic resonance spectroscopy (MRS)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28415165/progressive-supranuclear-gaze-palsy-with-predominant-cerebellar-ataxia-a-case-series-with-videos
#4
Zheyu Xu, Tchoyoson C C Lim, Wing Lok Au, Louis C S Tan
Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2...
April 18, 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28405024/antisense-oligonucleotide-therapy-for-spinocerebellar-ataxia-type-2
#5
Daniel R Scoles, Pratap Meera, Matthew D Schneider, Sharan Paul, Warunee Dansithong, Karla P Figueroa, Gene Hung, Frank Rigo, C Frank Bennett, Thomas S Otis, Stefan M Pulst
There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease. Both models recreate the progressive adult-onset dysfunction and degeneration of a neuronal network that are seen in patients, including decreased firing frequency of cerebellar Purkinje cells and a decline in motor function. We developed a potential therapy directed at the ATXN2 gene by screening 152 antisense oligonucleotides (ASOs)...
April 20, 2017: Nature
https://www.readbyqxmd.com/read/28401768/primary-progressive-multiple-sclerosis-presenting-with-severe-predominant-cognitive-impairment-and-psychiatric-symptoms-a-challenging-case
#6
Alberto Andrea Zambon, Giordano Cecchetti, Francesca Caso, Roberto Santangelo, Cristina Baldoli, Maria Grazia Natali Sora, Giancarlo Comi, Giuseppe Magnani, Vittorio Martinelli
Severe cognitive dysfunction is a frequent feature of multiple sclerosis (MS), normally associated with later stages of the disease in adult population. Nevertheless, progressive cognitive and neuropsychiatric disturbances might rarely be the presenting and predominant symptom. In order to better characterize this peculiar phenotype of MS, we report on the case of a 38-year-old man who referred to our hospital with the suspect of hereditary leukodystrophy after 5 years of behavioral and mood abnormalities, global cognitive dysfunction, clumsiness, and very mild pyramidal and cerebellar signs...
April 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28394027/changes-in-the-cell-population-in-brain-white-matter-in-multiple-system-atrophy
#7
Charlotte Havelund Nykjaer, Tomasz Brudek, Lisette Salvesen, Bente Pakkenberg
BACKGROUND: Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder with adult onset and unknown etiology. Clinically it is characterized by autonomic failure, cerebellar ataxia, parkinsonism, and corticospinal dysfunction in any combination and with varying severity. OBJECTIVES AND METHODS: To establish the extent of involvement of the white matter in the disease, we have used stereology to quantify the total number of neurons and glial cells (oligodendrocytes, astrocytes, and microglia) in the brains from 10 MSA patients and 11 controls...
April 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28393013/neural-substrates-of-motor-and-cognitive-dysfunctions-in-sca2-patients-a-network-based-statistics-analysis
#8
G Olivito, M Cercignani, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Bozzali, M Leggio
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs. It has been shown that patients affected by SCA2 present also cognitive impairments and psychiatric symptoms. The cerebellum is known to modulate cortical activity and to contribute to distinct functional networks related to higher-level functions beyond motor control. It is therefore conceivable that one or more networks, rather than isolated regions, may be dysfunctional in cerebellar degenerative diseases and that an abnormal connectivity within specific cerebello-cortical regions might explain the widespread deficits typically observed in patients...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28385189/suppression-of-nk-and-cd8-t-cells-reduces-astrogliosis-but-accelerates-cerebellar-dysfunction-and-shortens-life-span-in-a-mouse-model-of-sandhoff-disease
#9
Elizabeth J White, Bernardo L Trigatti, Suleiman A Igdoura
Sandhoff disease is an inherited lysosomal storage disease, resulting from the deficiency of lysosomal β-hexosaminidase A and B enzyme activity. The Hexb-/- mouse model recapitulates human disease and leads to fatal neurodegeneration and neuroinflammation. IL-15 is important for the proliferation of NK, NK T, and CD8(+) cytotoxic/memory T cells. In order to determine how changes to IL-15-dependent immune cell populations would alter the course of Sandhoff disease in mice, we generated a Hexb-/-Il-15-/- double knockout mouse and used motor behaviour tests, analyzed peripheral blood and brain leukocyte immunophenotypes, cytokine secretion, as well as examined markers of microgliosis, astrogliosis and apoptosis...
May 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28382420/cerebellar-theta-burst-stimulation-does-not-improve-freezing-of-gait-in-patients-with-parkinson-s-disease
#10
Arno M Janssen, Moniek A M Munneke, Jorik Nonnekes, Thomas van der Kraan, Alice Nieuwboer, Ivan Toni, Anke H Snijders, Bastiaan R Bloem, Dick F Stegeman
Freezing of gait (FOG) in Parkinson's disease (PD) likely results from dysfunction within a complex neural gait circuitry involving multiple brain regions. Herein, cerebellar activity is increased in patients compared to healthy subjects. This cerebellar involvement has been proposed to be compensatory. We hypothesized that patients with FOG would have a reduced ability to recruit the cerebellum to compensate for dysfunction in other brain areas. In this study cerebellar activity was modified unilaterally by either excitatory or inhibitory theta burst stimulation (TBS), applied during two separate sessions...
April 5, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28378233/multiple-system-atrophy-state-of-the-art
#11
REVIEW
Brice Laurens, Sylvain Vergnet, Miguel Cuina Lopez, Alexandra Foubert-Samier, François Tison, Pierre-Olivier Fernagut, Wassilios G Meissner
Multiple system atrophy (MSA) is a rare and fatal neurodegenerative disorder that is characterized by a variable combination of parkinsonism, cerebellar impairment, and autonomic dysfunction. Some symptomatic treatments are available while neuroprotection or disease-modification remain unmet treatment needs. The pathologic hallmark is the accumulation of aggregated alpha-synuclein (α-syn) in oligodendrocytes forming glial cytoplasmic inclusions, which qualifies MSA as synucleinopathy together with Parkinson's disease and dementia with Lewy bodies...
May 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28375547/demyelination-induced-by-oxidative-stress-is-regulated-by-sphingosine-1-phosphate-receptors
#12
Sinead A O'Sullivan, Maria Velasco-Estevez, Kumlesh K Dev
Oxidative stress is a pathological condition defined as an imbalance between production and removal of reactive oxygen species. This process causes structural cell damage, disrupts DNA repair and induces mitochondrial dysfunction. Many in vitro studies have used direct bolus application of H2 O2 to investigate the role of oxidative stress in cell culture. In this study, using mouse organotypic cerebellar slice cultures, the effects of H2 O2 -induced oxidative stress on myelination state were examined, using bolus concentrations of H2 O2 (0...
April 4, 2017: Glia
https://www.readbyqxmd.com/read/28374839/genetic-silencing-of-olivocerebellar-synapses-causes-dystonia-like-behaviour-in-mice
#13
Joshua J White, Roy V Sillitoe
Theories of cerebellar function place the inferior olive to cerebellum connection at the centre of motor behaviour. One possible implication of this is that disruption of olivocerebellar signalling could play a major role in initiating motor disease. To test this, we devised a mouse genetics approach to silence glutamatergic signalling only at olivocerebellar synapses. The resulting mice had a severe neurological condition that mimicked the early-onset twisting, stiff limbs and tremor that is observed in dystonia, a debilitating movement disease...
April 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28358814/dysfunctions-of-the-basal-ganglia-cerebellar-thalamo-cortical-system-produce-motor-tics-in-tourette-syndrome
#14
Daniele Caligiore, Francesco Mannella, Michael A Arbib, Gianluca Baldassarre
Motor tics are a cardinal feature of Tourette syndrome and are traditionally associated with an excess of striatal dopamine in the basal ganglia. Recent evidence increasingly supports a more articulated view where cerebellum and cortex, working closely in concert with basal ganglia, are also involved in tic production. Building on such evidence, this article proposes a computational model of the basal ganglia-cerebellar-thalamo-cortical system to study how motor tics are generated in Tourette syndrome. In particular, the model: (i) reproduces the main results of recent experiments about the involvement of the basal ganglia-cerebellar-thalamo-cortical system in tic generation; (ii) suggests an explanation of the system-level mechanisms underlying motor tic production: in this respect, the model predicts that the interplay between dopaminergic signal and cortical activity contributes to triggering the tic event and that the recently discovered basal ganglia-cerebellar anatomical pathway may support the involvement of the cerebellum in tic production; (iii) furnishes predictions on the amount of tics generated when striatal dopamine increases and when the cortex is externally stimulated...
March 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28356743/dynamic-balance-in-children-with-attention-deficit-hyperactivity-disorder-and-its-relationship-with-cognitive-functions-and-cerebellum
#15
Michal Goetz, Jaroslava Paulasova Schwabova, Zdenek Hlavka, Radek Ptacek, Craig Bh Surman
BACKGROUND: Attention-deficit hyperactivity disorder (ADHD) is linked to the presence of motor deficiencies, including balance deficits. The cerebellum serves as an integrative structure for balance control and is also involved in cognition, including timing and anticipatory regulation. Cerebellar development may be delayed in children and adolescents with ADHD, and inconsistent reaction time is commonly seen in ADHD. We hypothesized that dynamic balance deficits would be present in children with ADHD and they would correlate with attention and cerebellar functions...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28348953/cerebello-thalamo-cortical-networks-predict-positive-symptom-progression-in-individuals-at-ultra-high-risk-for-psychosis
#16
Jessica A Bernard, Joseph M Orr, Vijay A Mittal
Prospective longitudinal evaluation of adolescents at ultra-high-risk (UHR) for the development of psychosis enables an enriched neurodevelopmental perspective of disease progression in the absence of many of the factors that typically confound research with formally psychotic patients (antipsychotic medications, drug/alcohol dependence). The cerebellum has been linked to cognitive dysfunction and symptom severity in schizophrenia and recent work from our team suggests that it is a promising target for investigation in UHR individuals as well...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28348382/delta-frequency-stimulation-of-cerebellar-projections-can-compensate-for-schizophrenia-related-medial-frontal-dysfunction
#17
K L Parker, Y C Kim, R M Kelley, A J Nessler, K-H Chen, V A Muller-Ewald, N C Andreasen, N S Narayanan
Schizophrenia involves abnormalities in the medial frontal cortex that lead to cognitive deficits. Here we investigate a novel strategy to normalize medial frontal brain activity by stimulating cerebellar projections. We used an interval timing task to study elementary cognitive processing that requires both frontal and cerebellar networks that are disrupted in patients with schizophrenia. We report three novel findings. First, patients with schizophrenia had dysfunctional delta rhythms between 1-4 Hz in the medial frontal cortex...
March 28, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#18
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
April 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28315396/ischemia-deteriorates-spike-encoding-at-cortical-gabaergic-neurons-and-cerebellar-purkinje-cells-by-increasing-the-intracellular-ca-2
#19
Li Huang, Chun Wang, Rongjing Ge, Hong Ni, Shidi Zhao
GABAergic neurons play a critical role in the central nervous system, such as well-organized behaviors. The ischemic cell death is presumably initiated by neuronal excitotoxicity resulted from the dysfunction of GABAergic neurons. It is not clear how ischemia influences different types of GABAergic neurons and whether intracellular Ca(2+) plays a key role in the ischemic excitotoxicity. We have investigated this issue at cortical GABAergic neurons and cerebellar Purkinje cells by whole-cell recording in mouse brain slices, and the roles of intracellular Ca(2+) are examined by BABTA infusion...
March 14, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28304238/remote-motor-system-metabolic-profile-and-surgery-outcome-in-cervical-spondylotic-myelopathy
#20
Sorin C Craciunas, Mircea R Gorgan, Bogdan Ianosi, Phil Lee, Joseph Burris, Carmen M Cirstea
OBJECTIVE In patients with cervical spondylotic myelopathy (CSM), the motor system may undergo progressive functional/structural changes rostral to the lesion, and these changes may be associated with clinical disability. The extent to which these changes have a prognostic value in the clinical recovery after surgical treatment is not yet known. In this study, magnetic resonance spectroscopy (MRS) was used to test 2 primary hypotheses. 1) Based on evidence of corticospinal and spinocerebellar, rubro-, or reticulospinal tract degeneration/dysfunction during chronic spinal cord compression, the authors hypothesized that the metabolic profile of the primary motor cortices (M1s) and cerebellum, respectively, would be altered in patients with CSM, and these alterations would be associated with the extent of the neurological disabilities...
March 17, 2017: Journal of Neurosurgery. Spine
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