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https://www.readbyqxmd.com/read/29031602/microstructural-mri-basis-of-the-cognitive-functions-in-patients-with-spinocerebellar-ataxia-type-2
#1
G Olivito, M Lupo, C Iacobacci, S Clausi, S Romano, M Masciullo, M Molinari, M Cercignani, M Bozzali, M Leggio
Spinocerebellarataxiatype2(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 11, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
August 26, 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
#11
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...
August 23, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28804044/real-time-ultrasound-doppler-enhances-precision-in-image-guided-approaches-to-the-cerebello-pontine-angle
#12
Davit Baghdasaryan, Marcel Albrecht, Mihr Shahnazaryan, Steffen Rosahl
OBJECTIVE: To evaluate efficacy and reliability of intraoperative Doppler sonography in localizing the transverse and sigmoid sinuses during lateral suboccipital craniotomy. METHODS: A 16-Mhz intraoperative micro-Doppler ultrasound (16Mhz, Multi-Dop pro®, Compumedics, Germany) was applied to detect the medial border of the sigmoid sinus and the inferior border of the transverse sinus in 25 patients. Micro-Doppler measurements were compared to MR- and CT-based image-guidance (Kolibri®, Brainlab, Germany)...
August 10, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28781902/study-on-lesion-assessment-of-cerebello-thalamo-cortical-network-in-wilson-s-disease-with-diffusion-tensor-imaging
#13
Anqin Wang, Hongli Wu, Chunsheng Xu, Lanfeng Tang, Jaeyoun Lee, Min Wang, Man Jiang, Chuanfu Li, Qi Lu, Chunyun Zhang
Wilson's disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in the brain and any other tissues. This article aimed to assess lesions in cerebello-thalamo-cortical network with an advanced technique of diffusion tensor imaging (DTI) in WD. 35 WD patients and 30 age- and sex-matched healthy volunteers were recruited to accept diffusion-weighted images with 15 gradient vectors and conventional magnetic resonance imaging (MRI). The DTI parameters, including fractional anisotropy (FA) and mean diffusion (MD), were calculated by diffusion kurtosis estimator software...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28743454/convergence-of-primary-sensory-cortex-and-cerebellar-nuclei-pathways-in-the-whisker-system
#14
REVIEW
Carmen B Schäfer, Freek E Hoebeek
To safely maneuver through the environment the brain needs to compare active sensory information with ongoing motor programs. This process occurs at various levels in the brain: at the lower level, i.e., in the spinal cord, reflexes are generated for the most primitive motor responses; at the intermediate level, i.e., in the brainstem, various nuclei co-process sensory- and motor-related inputs; and, at the higher level cerebellum and thalamo-cortical networks individually compute suitable commands for fine-tuned motor output...
July 22, 2017: Neuroscience
https://www.readbyqxmd.com/read/28735798/the-etiology-of-essential-tremor-genes-versus-environment
#15
Franziska Hopfner, Rick C Helmich
INTRODUCTION: Essential tremor (ET) is characterized by bilateral upper limb action tremor. Here we review the pathophysiology (cerebral mechanisms) and etiology (genetic and environmental risk factors) of ET. METHODS: We reviewed the literature (until June 2017) by searching PubMed for relevant papers. RESULTS: The pathophysiology of ET involves oscillatory activity in the cortico-olivo-cerebello-thalamic circuit, evidenced by electrophysiological and metabolic imaging...
July 17, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28730570/structural-connectivity-differences-in-essential-tremor-with-and-without-resting-tremor
#16
Maria Eugenia Caligiuri, Gennarina Arabia, Gaetano Barbagallo, Angela Lupo, Maurizio Morelli, Rita Nisticò, Fabiana Novellino, Andrea Quattrone, Maria Salsone, Basilio Vescio, Andrea Cherubini, Aldo Quattrone
In this work, we investigated motor network structure in patients affected by essential tremor (ET) with or without resting tremor, using probabilistic tractography of the cerebello-thalamo-basal ganglia-cortical loop. Twenty-five patients with ET, twenty-two patients with ET associated with resting tremor (rET), and twenty-five age- and sex-matched healthy controls were included in the study. All participants underwent whole-brain 3D T1-weighted and diffusion-weighted MRI, and DAT-SPECT. Probabilistic tractography was performed on diffusion data in network mode, reconstructing connections between the different structures of the cerebello-thalamo-basal ganglia-cortical loop...
July 20, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28708110/cognitive-changes-in-the-spinocerebellar-ataxias-due-to-expanded-polyglutamine-tracts-a-survey-of-the-literature
#17
REVIEW
Evelyn Lindsay, Elsdon Storey
The dominantly-inherited ataxias characterised by expanded polyglutamine tracts-spinocere bellar ataxias (SCAs) 1, 2, 3, 6, 7, 17, dentatorubral pallidoluysian atrophy (DRPLA) and, in part, SCA 8-have all been shown to result in various degrees of cognitive impairment. We survey the literature on the cognitive consequences of each disorder, attempting correlation with their published neuropathological, magnetic resonance imaging (MRI) and clinical features. We suggest several psychometric instruments for assessment of executive function, whose results are unlikely to be confounded by visual, articulatory or upper limb motor difficulties...
July 14, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28700967/eosinophilic-granuloma-at-the-cerebellopontine-angle-in-an-adult-a-rare-case-report-and-literature-review
#18
Arash Safarian, Nima Derakhshan, Mousa Taghipour, Amirreza Dehghanian
INTRODUCTION: Langerhans cell histiocytosis (LCH) is a rare immunologic disorder, identified by immature proliferation of histiocytes which may present as systemic or focal lesions. Eosinophilic granuloma (EG) is localized from of LCH mainly involving bones such as skull, femur, spine, ribs, mandible and pelvis. Cerebello-pontine (CP) angle is a rare anatomic location for involvement by EG. PRESENTATION OF CASE: A 32 year old man was being evaluated in our neuro-oncology clinic due to diplopia since 4 months ago...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28689261/investigation-of-cognitive-circuits-using-steady-state-cerebral-blood-volume-and-diffusion-tensor-imaging-in-patients-with-mild-cognitive-impairment-following-electrical-injury
#19
Chang-Hyun Park, Cheong Hoon Seo, Myung Hun Jung, So Young Joo, Soyeon Jang, Ho Young Lee, Suk Hoon Ohn
PURPOSE: We utilized cerebral blood volume (CBV) magnetic resonance imaging and diffusion tensor imaging (DTI) to investigate changes in cognitive networks in patients experiencing cognitive dysfunction following electrical injury. METHODS: Cognitive function was assessed across various domains, including attention, verbal memory, executive function, and language. Depressive symptoms were also evaluated. CBV maps and DTI measures were obtained from 24 patients (age, 41...
July 8, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28669908/modulation-of-cognitive-cerebello-cerebral-functional-connectivity-by-lateral-cerebellar-continuous-theta-burst-stimulation
#20
Anuj Rastogi, Robin Cash, Katharine Dunlop, Michael Vesia, Aaron Kucyi, Ayda Ghahremani, Jonathan Downar, Joyce Chen, Robert Chen
Network connectivity measured with resting state functional magnetic resonance imaging (rsfMRI) has revealed the contribution of distinct cerebellar lobules to an array of brain wide networks sub-serving motor and cognitive processes. As distinct cerebellar lobules form relatively accessible nodes of different brain networks, this raises the possibility for site-specific modulation of network connectivity using non-invasive brain stimulation techniques such as transcranial magnetic stimulation (TMS). Continuous theta burst transcranial magnetic stimulation (cTBS) induces long-lasting inhibition of cortical areas...
September 2017: NeuroImage
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