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https://www.readbyqxmd.com/read/29204315/pathogenesis-of-primary-orthostatic-tremor-current-concepts-and-controversies
#1
REVIEW
Abhishek Lenka, Pramod Kumar Pal, Danish Ejaz Bhatti, Elan D Louis
Background: Orthostatic tremor (OT), a rare and complex movement disorder, is characterized by rapid tremor of both legs and the trunk while standing. These disappear while the patient is either lying down or walking. OT may be idiopathic/primary or it may coexist with several neurological conditions (secondary OT/OT plus). Primary OT remains an enigmatic movement disorder and its pathogenesis and neural correlates are not fully understood. Methods: A PubMed search was conducted in July 2017 to identify articles for this review...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29123475/cerebello-cortical-differences-in-effective-connectivity-of-the-dominant-and-non-dominant-hand-during-a-visuomotor-paradigm-of-grip-force-control
#2
Eric Moulton, Cécile Galléa, Claire Kemlin, Romain Valabregue, Marc A Maier, Pavel Lindberg, Charlotte Rosso
Structural and functional differences are known to exist within the cortical sensorimotor networks with respect to the dominant vs. non-dominant hand. Similarly, the cerebellum, a key structure in the sensorimotor network with its cerebello-cortical connections, has been reported to respond differently when using the dominant vs. non-dominant hand. Several groups have already investigated causal interactions during diverse motor paradigms using effective connectivity but few have studied the larger visuomotor network, including key structures such as the parietal cortex and the cerebellum, with both hands...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29119634/the-cerebral-basis-of-parkinsonian-tremor-a-network-perspective
#3
Rick C Helmich
Tremor in Parkinson's disease is a poorly understood sign. Although it is one of the clinical hallmarks of the disease, its pathophysiology remains unclear. It is clear that tremor involves different neural mechanisms than bradykinesia and rigidity, the other core motor signs of Parkinson's disease. In particular, the role of dopamine in tremor has been heavily debated given clinical observations that tremor has a variable response to dopaminergic medication. From a neuroscience perspective, tremor is also a special sign; unlike other motor signs, it has a clear electrophysiological signature (frequency, phase, and power)...
November 9, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29098451/tremor-in-multiple-sclerosis-is-associated-with-cerebello-thalamic-pathology
#4
Frederique Boonstra, Grace Florescu, Andrew Evans, Chris Steward, Peter Mitchell, Patricia Desmond, Brad Moffat, Helmut Butzkueven, Scott Kolbe, Anneke van der Walt
Tremor in people with multiple sclerosis (MS) is a frequent and debilitating symptom with a relatively poorly understood pathophysiology. To determine the relationship between clinical tremor severity and structural magnetic resonance imaging parameters. Eleven patients with clinically definite MS and right-sided upper limb tremor were studied. Tremor severity was assessed using the Bain score (overall severity, writing, and Archimedes spiral drawing). Cerebellar dysfunction was assessed using the Scale for the Assessment and Rating of Ataxia...
November 2, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29088993/an-update-on-the-diagnosis-and-treatment-of-vestibular-schwannoma
#5
Jane Halliday, Scott A Rutherford, Martin G McCabe, Dafydd G Evans
Vestibular schwannomas (VS) account for approximately 85% of tumors in the cerebello-pontine angle, with a lifetime incidence of approximately 1 in 1000. Most are sporadic, with approximately 5% related to the tumor predisposition syndrome Neurofibromatosis Type 2 (NF2). The mainstays of management strategies are: observation, surgery, radiosurgery/radiotherapy and, for patients with NF2 and rapidly growing tumors or deteriorating neurologic function the targeted therapy bevacizumab. While morbidity and mortality rates related to treatment of VS have improved dramatically over the last decades, there are still significant improvements that could be made, in particular with regards to long-term facial nerve and hearing outcomes...
November 7, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29074317/alteration-of-cortical-excitability-and-its-modulation-by-miglustat-in-niemann-pick-disease-type-c
#6
Shady Safwat Hassan, Carlos Trenado, Saskia Elben, Alfons Schnitzler, Stefan Jun Groiss
Niemann-Pick type C (NP-C) is a rare, neurodegenerative, lysosomal storage disease. Cortical excitability using different transcranial magnetic stimulation (TMS) protocols together with clinical and neuropsychological testing was longitudinally assessed in a patient with NP-C. Cerebellar inhibition, a measure for the integrity of the cerebello-thalamo-cortical network, was impaired. Short-latency afferent inhibition, a measure for cholinergic transmission, and cognitive functions were also impaired and improved under Miglustat treatment...
October 23, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29066004/microstructural-white-matter-abnormalities-in-patients-with-col6a3-mutations-dyt27-dystonia
#7
Angela Jochim, Yong Li, Michael Zech, Daniel Lam, Nadine Gross, Kathrin Koch, Claus Zimmer, Juliane Winkelmann, Bernhard Haslinger
INTRODUCTION: Recently, mutations in the collagen gene COL6A3 have been reported in patients with autosomal-recessive, isolated dystonia (DYT27). Zebrafish models of COL6A3 mutations showed deficits in axonal targeting mechanisms. Therefore, COL6A3 mutations have been considered to contribute to irregular sensorimotor circuit formation. To test this hypothesis, we examined structural abnormalities in cerebral fiber tracts of dystonia patients with COL6A3 mutations using diffusion tensor imaging...
October 14, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29062685/loss-of-inhibition-in-sensorimotor-networks-in-focal-hand-dystonia
#8
Cecile Gallea, Priyantha Herath, Valerie Voon, Alicja Lerner, John Ostuni, Ziad Saad, Shantalaxmi Thada, Jeffrey Solomon, Silvina G Horovitz, Mark Hallett
OBJECTIVE: To investigate GABA-ergic receptor density and associated brain functional and grey matter changes in focal hand dystonia (FHD). METHODS: 18 patients with FHD of the right hand and 18 age and gender matched healthy volunteers (HV) participated in this study. We measured the density of GABA-A receptors using [(11)C] Flumazenil and perfusion using [(15)O] H2O. Anatomical images were also used to measure grey matter volume with voxel-based morphometry (VBM)...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29057532/lobular-patterns-of-cerebellar-resting-state-connectivity-in-adults-with-autism-spectrum-disorder
#9
Giusy Olivito, Michela Lupo, Fiorenzo Laghi, Silvia Clausi, Roberto Baiocco, Mara Cercignani, Marco Bozzali, Maria Leggio
Autism Spectrum disorder is a neurodevelopmental disorder characterized by core deficits in social functioning. Core autistics traits refer to poor social and imagination skills, poor attention-switching/strong focus of attention, exceptional attention to detail, as expressed by the Autism-Spectrum Quotient. Over the years, the importance of the cerebellum in the etiology of Autism Spectrum Disorder has been acknowledged. Neuroimaging studies have provided a strong support to this view, showing both structural and functional connectivity alterations to affect the cerebellum in Autism Spectrum Disorder...
October 23, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29031602/microstructural-mri-basis-of-the-cognitive-functions-in-patients-with-spinocerebellar-ataxia-type-2
#10
G Olivito, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Cercignani, M Bozzali, M Leggio
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease involving the cerebellum. The particular atrophy pattern results in some typical clinical features mainly including motor deficits. In addition, the presence of cognitive impairments, involving language, visuospatial and executive functions, has been also shown in SCA2 patients and it is now widely accepted as a feature of the disease. The aim of the study is to investigate the microstructural patterns and the anatomo-functional substrate that could account for the cognitive symptomatology observed in SCA2 patients...
October 12, 2017: Neuroscience
https://www.readbyqxmd.com/read/28993670/contralateral-cortico-ponto-cerebellar-pathways-reconstruction-in-humans-in-vivo-implications-for-reciprocal-cerebro-cerebellar-structural-connectivity-in-motor-and-non-motor-areas
#11
Fulvia Palesi, Andrea De Rinaldis, Gloria Castellazzi, Fernando Calamante, Nils Muhlert, Declan Chard, J Donald Tournier, Giovanni Magenes, Egidio D'Angelo, Claudia A M Gandini Wheeler-Kingshott
Cerebellar involvement in cognition, as well as in sensorimotor control, is increasingly recognized and is thought to depend on connections with the cerebral cortex. Anatomical investigations in animals and post-mortem humans have established that cerebro-cerebellar connections are contralateral to each other and include the cerebello-thalamo-cortical (CTC) and cortico-ponto-cerebellar (CPC) pathways. CTC and CPC characterization in humans in vivo is still challenging. Here advanced tractography was combined with quantitative indices to compare CPC to CTC pathways in healthy subjects...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28973549/a-human-patient-derived-cellular-model-of-joubert-syndrome-reveals-ciliary-defects-which-can-be-rescued-with-targeted-therapies
#12
Shalabh Srivastava, Simon A Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, Charline Henry, Sophie Saunier, Colin G Miles, John A Sayer
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multi-system phenotypes, including a cerebello-retinal-renal syndrome. JBTS is genetically heterogeneous, however mutations in CEP290 are a common underlying cause. The renal manifestation of JBTS is a juvenile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage renal failure within the first two decades of life, thus providing a potential window for therapeutic intervention...
September 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28970788/altered-functional-connectivity-density-in-subtypes-of-parkinson-s-disease
#13
Xiaofei Hu, Yuchao Jiang, Xiaomei Jiang, Jiuquan Zhang, Minglong Liang, Jing Li, Yanling Zhang, Dezhong Yao, Cheng Luo, Jian Wang
Parkinson's disease (PD) can be classified into tremor-dominant and akinetic-rigid subtypes, each of which exhibits a unique clinical course and prognosis. The neural basis for these disparate manifestations is not well-understood, however. This study comprehensively investigated the altered functional connectivity patterns of these two subtypes. Twenty-five tremor-dominant patients, 25 akinetic-rigid patients and 26 normal control subjects participated in this study. Resting-state functional MRI data were analyzed using functional connectivity density (FCD) and seed-based functional connectivity approaches...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28966877/the-olivary-hypothesis-of-essential-tremor-time-to-lay-this-model-to-rest
#14
REVIEW
Elan D Louis, Abhishek Lenka
BACKGROUND: Although essential tremor (ET) is the most common tremor disorder, its pathogenesis is not fully understood. The traditional model of ET, proposed in the early 1970s, posited that the inferior olivary nucleus (ION) was the prime generator of tremor in ET and that ET is a disorder of electrophysiological derangement, much like epilepsy. This article comprehensively reviews the origin and basis of this model, its merits and problems, and discusses whether it is time to lay this model to rest...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28917165/cerebellar-induced-differential-polyglot-aphasia-a-neurolinguistic-and-fmri-study
#15
Peter Mariën, Kim van Dun, Johanna Van Dormael, Dorien Vandenborre, Stefanie Keulen, Mario Manto, Jo Verhoeven, Jubin Abutalebi
Research has shown that linguistic functions in the bilingual brain are subserved by similar neural circuits as in monolinguals, but with extra-activity associated with cognitive and attentional control. Although a role for the right cerebellum in multilingual language processing has recently been acknowledged, a potential role of the left cerebellum remains largely unexplored. This paper reports the clinical and fMRI findings in a strongly right-handed (late) multilingual patient who developed differential polyglot aphasia, ataxic dysarthria and a selective decrease in executive function due to an ischemic stroke in the left cerebellum...
September 13, 2017: Brain and Language
https://www.readbyqxmd.com/read/28917055/identification-of-genetic-disorders-causing-disruption-of-selenoprotein-biosynthesis
#16
Erik Schoenmakers, Krishna Chatterjee
Disorders of selenoprotein biosynthesis in humans, due to mutations in three genes (SECISBP2, TRU-TCA1-1, and SEPSECS) involved in the selenocysteine insertion pathway, have been described. Patients with SECISBP2 and TRU-TCA1-1 defects manifest a multisystem disorder with a biochemical signature of abnormal thyroid function tests due to the impaired activity of deiodinase selenoenzymes, myopathic features linked to SEPN1 deficiency and phenotypes resulting from increased levels of reactive oxygen species attributable to lack of antioxidant selenoenzymes...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28900413/impaired-cerebellum-to-primary-motor-cortex-associative-plasticity-in-parkinson-s-disease-and-spinocerebellar-ataxia-type-3
#17
Ming-Kuei Lu, Jui-Cheng Chen, Chun-Ming Chen, Jeng-Ren Duann, Ulf Ziemann, Chon-Haw Tsai
BACKGROUND: Functional perturbation of the cerebellum (CB)-motor cortex (M1) interactions may underlie pathophysiology of movement disorders, such as Parkinson's disease (PD) and spinocerebellar ataxia type 3 (SCA3). Recently, M1 motor excitability can be bidirectionally modulated in young subjects by corticocortical paired associative stimulation (PAS) on CB and contralateral M1 with transcranial magnetic stimulation (TMS), probably through the cerebello-dentato-thalamo-cortical (CDTC) circuit...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28852150/targeted-disruption-of-supraspinal-motor-circuitry-reveals-a-distributed-network-underlying-restless-legs-syndrome-rls-like-movements-in-the-rat
#18
Chun-Ni Guo, Wen-Jia Yang, Shi-Qin Zhan, Xi-Fei Yang, Michael C Chen, Patrick M Fuller, Jun Lu
In this study we uncovered, through targeted ablation, a potential role for corticospinal, cerebello-rubro-spinal, and hypothalamic A11 dopaminergic systems in the development of restless legs syndrome (RLS)-like movements during sleep. Targeted lesions in select basal ganglia (BG) structures also revealed a major role for nigrostriatal dopamine, the striatum, and the external globus pallidus (GPe) in regulating RLS-like movements, in particular pallidocortical projections from the GPe to the motor cortex. We further showed that pramipexiole, a dopamine agonist used to treat human RLS, reduced RLS-like movements...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28843013/it-s-not-just-the-basal-ganglia-cerebellum-as-a-target-for-dystonia-therapeutics
#19
REVIEW
Ambika Tewari, Rachel Fremont, Kamran Khodakhah
Dystonia is a common movement disorder that devastates the lives of many patients, but the etiology of this disorder remains poorly understood. Dystonia has traditionally been considered a disorder of the basal ganglia. However, growing evidence suggests that the cerebellum may be involved in certain types of dystonia, raising several questions. Can different types of dystonia be classified as either a basal ganglia disorder or a cerebellar disorder? Is dystonia a network disorder that involves the cerebellum and basal ganglia? If dystonia is a network disorder, how can we target treatments to alleviate symptoms in patients? A recent study by Chen et al, using the pharmacological mouse model of rapid-onset dystonia parkinsonism, has provided some insight into these important questions...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28836067/is-nigrostriatal-dopaminergic-deficit-necessary-for-holmes-tremor-to-develop-the-datscan-and-ibzm-spect-study
#20
Agata Gajos, Sławomir Budrewicz, Magdalena Koszewicz, Małgorzata Bieńkiewicz, Janusz Dąbrowski, Jacek Kuśmierek, Jarosław Sławek, Andrzej Bogucki
Holmes's tremor (HT) is assumed to be the result of coexistence of nigrostriatal dopaminergic system impairment and the lesion of cerebello-thalamic pathways. It was suggested that dopaminergic deficiency is responsible for rest tremor, and lack of compensatory cerebellar function leads to spill of tremor into voluntary movements. Cases of HT with and without abnormalities of the presynaptic part of dopaminergic nigrostriatal were published and these findings raised the question of possibility of the postsynaptic lesion...
November 2017: Journal of Neural Transmission
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