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Cerebellum

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https://www.readbyqxmd.com/read/29349630/developmental-changes-in-serotonergic-modulation-of-gabaergic-synaptic-transmission-and-postsynaptic-gabaa-receptor-composition-in-the-cerebellar-nuclei
#1
Fumihito Saitow, Masatoshi Nagano, Hidenori Suzuki
Outputs from the cerebellar nuclei (CN) are important for generating and controlling movement. The activity of CN neurons is controlled not only by excitatory inputs from mossy and climbing fibers and by γ-aminobutyric acid (GABA)-based inhibitory transmission from Purkinje cells in the cerebellar cortex but is also modulated by inputs from other brain regions, including serotonergic fibers that originate in the dorsal raphe nuclei. We examined the modulatory effects of serotonin (5-HT) on GABAergic synapses during development, using rat cerebellar slices...
January 19, 2018: Cerebellum
https://www.readbyqxmd.com/read/29349629/cerebellum-from-development-to-disease-the-8th-international-symposium-of-the-society-for-research-on-the-cerebellum-and-ataxias
#2
EDITORIAL
Hassan Marzban, Mario Manto, Jean Mariani
In recent years, there has been tremendous growth in research on cerebellar motor and non-motor functions. Cerebellum is particularly involved in the spectrum of neurodevelopmental diseases. The 8th International Symposium of the Society for Research on the Cerebellum and Ataxia (SRCA) was held in Winnipeg, Manitoba, (Canada) on May 24-26, 2017. The main theme of the 8th International Symposium was "Development of the Cerebellum and Neurodevelopmental Disorders." Advances in genetics, epigenetic, cerebellar neurogenesis, axonogenesis and gliogenesis, cerebellar developmental disorders including autism spectrum disorders (ASD), neuroimaging, cerebellar ataxias, medulloblastoma, and clinical investigation of cerebellar diseases were presented...
January 18, 2018: Cerebellum
https://www.readbyqxmd.com/read/29327279/emotion-recognition-and-psychological-comorbidity-in-friedreich-s-ataxia
#3
Teresa Costabile, Veronica Capretti, Filomena Abate, Agnese Liguori, Francesca Paciello, Chiara Pane, Anna De Rosa, Silvio Peluso, Giuseppe De Michele, Alessandro Filla, Francesco Saccà
Friedreich's ataxia (FRDA) is an autosomal recessive disease presenting with ataxia, corticospinal signs, peripheral neuropathy, and cardiac abnormalities. Little effort has been made to understand the psychological and emotional burden of the disease. The aim of our study was to measure patients' ability to recognize emotions using visual and non-verbal auditory hints, and to correlate this ability with psychological, neuropsychological, and neurological variables. We included 20 patients with FRDA, and 20 age, sex, and education matched healthy controls (HC)...
January 11, 2018: Cerebellum
https://www.readbyqxmd.com/read/29327278/nicotinamide-inhibits-ethanol-induced-caspase-3-and-parp-1-over-activation-and-subsequent-neurodegeneration-in-the-developing-mouse-cerebellum
#4
Alessandro Ieraci, Daniel G Herrera
Fetal alcohol spectrum disorder (FASD) is the principal preventable cause of mental retardation in the western countries resulting from alcohol exposure during pregnancy. Ethanol-induced massive neuronal cell death occurs mainly in immature neurons during the brain growth spurt period. The cerebellum is one of the brain areas that are most sensitive to ethanol neurotoxicity. Currently, there is no effective treatment that targets the causes of these disorders and efficient treatments to counteract or reverse FASD are desirable...
January 11, 2018: Cerebellum
https://www.readbyqxmd.com/read/29307116/discovery-of-transcription-factors-novel-to-mouse-cerebellar-granule-cell-development-through-laser-capture-microdissection
#5
Peter G Y Zhang, Joanna Yeung, Ishita Gupta, Miguel Ramirez, Thomas Ha, Douglas J Swanson, Sayaka Nagao-Sato, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Carsten O Daub, Erik Arner, Michiel de Hoon, Piero Carninci, Alistair R R Forrest, Yoshihide Hayashizaki, Dan Goldowitz
Laser-capture microdissection was used to isolate external germinal layer tissue from three developmental periods of mouse cerebellar development: embryonic days 13, 15, and 18. The cerebellar granule cell-enriched mRNA library was generated with next-generation sequencing using the Helicos technology. Our objective was to discover transcriptional regulators that could be important for the development of cerebellar granule cells-the most numerous neuron in the central nervous system. Through differential expression analysis, we have identified 82 differentially expressed transcription factors (TFs) from a total of 1311 differentially expressed genes...
January 6, 2018: Cerebellum
https://www.readbyqxmd.com/read/29294214/cerebellar-abiotrophy-across-domestic-species
#6
REVIEW
Erica Yuki Scott, Kevin Douglas Woolard, Carrie J Finno, James D Murray
Cerebellar abiotrophy (CA) is a neurodegenerative disorder affecting the cerebellum and occurs in multiple species. Although CA is well researched in humans and mice, domestic species such as the dog, cat, sheep, cow, and horse receive little recognition. This may be due to few studies addressing the mechanism of CA in these species. However, valuable information can still be extracted from these cases. A review of the clinicohistologic phenotype of CA in these species and determining the various etiologies of CA may aid in determining conserved and required pathways necessary for proper cerebellar development and function...
January 2, 2018: Cerebellum
https://www.readbyqxmd.com/read/29282617/crus-i-in-the-rodent-cerebellum-its-homology-to-crus-i-and-ii-in-the-primate-cerebellum-and-its-anatomical-uniqueness-among-neighboring-lobules
#7
REVIEW
Izumi Sugihara
In the human cerebellum, the crus I and crus II lobules (or the ansiform lobule), which are implicated in cognitive and visuomotor functions, are significantly expanded compared to other anterior and posterior lobules, which are involved mainly in somatosensorimotor function. In applying rodent models, it is essential to identify the lobules that are homologous to human crus I and crus II. Observation of the lobular structure in human, macaque, marmoset, rat, and mouse has indicated that human crus I and II are homologous to crus I in rodents (referred to as "ansiform area, AA")...
December 27, 2017: Cerebellum
https://www.readbyqxmd.com/read/29282616/non-invasive-cerebellar-stimulation-moving-towards-clinical-applications-for-cerebellar-and-extra-cerebellar-disorders
#8
EDITORIAL
Kim van Dun, Mario Manto
The field of non-invasive stimulation of the cerebellum is quickly expanding. The anatomical structure of the cerebellum with a high density of neurons in the superficial layer, its electrical properties, and its participation in numerous closed-loop circuits involved in motor, cognitive, and affective operations both in children and in adults make of the cerebellum a target with very high potential for neuromodulation of both cerebellar and extra-cerebellar disorders, in neurology, psychiatry, and neurosurgery...
December 27, 2017: Cerebellum
https://www.readbyqxmd.com/read/29260439/eye-movement-research-in-the-twenty-first-century-a-window-to-the-brain-mind-and-more
#9
EDITORIAL
Aasef G Shaikh, David S Zee
The study of eye movements not only addresses debilitating neuro-ophthalmological problems but has become an essential tool of basic neuroscience research. Eye movements are a classic way to evaluate brain function-traditionally in disorders affecting the brainstem and cerebellum. Abnormalities of eye movements have localizing value and help narrow the differential diagnosis of complex neurological problems. More recently, using sophisticated behavioral paradigms, measurement of eye movements has also been applied to disorders of the thalamus, basal ganglia, and cerebral cortex...
December 19, 2017: Cerebellum
https://www.readbyqxmd.com/read/29248984/different-cerebellar-ataxia-phenotypes-associated-with-mutations-of-the-pnpla6-gene-in-brazilian-patients-with-recessive-ataxias
#10
Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munhoz
Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations...
December 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/29248983/are-covert-saccade-functionally-relevant-in-vestibular-hypofunction
#11
R Hermann, D Pelisson, O Dumas, Ch Urquizar, E Truy, C Tilikete
The vestibulo-ocular reflex maintains gaze stabilization during angular or linear head accelerations, allowing adequate dynamic visual acuity. In case of bilateral vestibular hypofunction, patients use saccades to compensate for the reduced vestibulo-ocular reflex function, with covert saccades occurring even during the head displacement. In this study, we questioned whether covert saccades help maintain dynamic visual acuity, and evaluated which characteristic of these saccades are the most relevant to improve visual function...
December 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/29243202/non-invasive-cerebellar-stimulation-a-promising-approach-for-stroke-recovery
#12
REVIEW
Maximilian J Wessel, Friedhelm C Hummel
Non-invasive brain stimulation (NIBS) combined with behavioral training is a promising strategy to augment recovery after stroke. Current research efforts have been mainly focusing on primary motor cortex (M1) stimulation. However, the translation from proof-of-principle to clinical applications is not yet satisfactory. Possible reasons are the heterogeneous properties of stroke, generalization of the stimulation protocols, and hence the lack of patient stratification. One strategy to overcome these limitations could be the evaluation of alternative stimulation targets, like the cerebellum...
December 14, 2017: Cerebellum
https://www.readbyqxmd.com/read/29218544/the-molecular-pathway-regulating-bergmann-glia-and-folia-generation-in-the-cerebellum
#13
REVIEW
Alan W Leung, James Y H Li
Evolution of complex behaviors in higher vertebrates and primates require the development of sophisticated neuronal circuitry and the expansion of brain surface area to accommodate the vast number of neuronal and glial populations. To achieve these goals, the neocortex in primates and the cerebellum in amniotes have developed specialized types of basal progenitors to aid the folding of their cortices. In the cerebellum, Bergmann glia constitute such a basal progenitor population, having a distinctive morphology and playing a critical role in cerebellar corticogenesis...
December 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/29196977/self-organized-cerebellar-tissue-from-human-pluripotent-stem-cells-and-disease-modeling-with-patient-derived-ipscs
#14
REVIEW
Keiko Muguruma
Recent advances in the techniques that differentiate induced pluripotent stem cells (iPSCs) into specific types of cells enabled us to establish in vitro cell-based models as a platform for drug discovery. iPSC-derived disease models are advantageous to generation of a large number of cells required for high-throughput screening. Furthermore, disease-relevant cells differentiated from patient-derived iPSCs are expected to recapitulate the disorder-specific pathogenesis and physiology in vitro. Such disease-relevant cells will be useful for developing effective therapies...
December 2, 2017: Cerebellum
https://www.readbyqxmd.com/read/29196976/identification-of-a-splicing-mutation-in-itpr1-via-wes-in-a-chinese-early-onset-spinocerebellar-ataxia-family
#15
Li Wang, Ying Hao, Peng Yu, Zhenhua Cao, Jin Zhang, Xin Zhang, Yuanyuan Chen, Hao Zhang, Weihong Gu
Mutations in the inositol 1,4,5-triphosphate receptor type 1 gene (ITPR1) lead to SCA15, SCA16, and SCA29. To date, only a few families with SCA29 have been reported. A three-generation Chinese family including four affected persons and two unaffected persons were enrolled in this study. We conducted whole-exome sequencing (WES) of the proband DNA initially to find the causal gene. We ascertained the family with autosomal dominant type of congenital nonprogressive cerebellar ataxia (CNPCA) associated with delayed motor and cognitive impairment...
December 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/29196975/paradoxical-activation-in-the-cerebellum-during-language-fmri-in-patients-with-brain-tumors-possible-explanations-based-on-neurovascular-uncoupling-and-functional-reorganization
#16
Nicholas S Cho, Kyung K Peck, Zhigang Zhang, Andrei I Holodny
The cerebellum is known for its crossed activation pattern with the contralateral cerebral hemisphere during language functional magnetic resonance imaging (fMRI) tasks in healthy patients. Crossed cerebro-cerebellar activation has been previously shown to occur in patients with brain tumors not affecting the activation areas. However, the presence of a tumor in left Broca's area in the inferior frontal gyrus is known to disrupt cerebral activation during language tasks. This study investigated if crossed cerebro-cerebellar activation patterns for language tasks would still occur in such patients...
December 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/29196974/the-effects-of-gadolinium-based-contrast-agents-on-the-cerebellum-from-basic-research-to-neurological-practice-and-from-pregnancy-to-adulthood
#17
EDITORIAL
Winda Ariyani, Miski Aghnia Khairinisa, Gaetano Perrotta, Mario Manto, Noriyuki Koibuchi
Gadolinium (Gd)-based contrast agents (GBCAs) are used in magnetic resonance imaging (MRI) to increase the diagnostic yield. Current reports using animal models or human subjects have shown that GBCAs may be deposited in brain including the cerebellum. Although further studies may be required to clarify the toxicity of GBCAs, we should be more cautious to use these agents particularly in patients who more likely to have repeated enhanced MRI along their lifespan. In this editorial, current studies to clarify the toxicity of GBCAs in the cerebellum are introduced...
December 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/29196973/a-novel-homozygous-mutation-in-sptbn2-leads-to-spinocerebellar-ataxia-in-a-consanguineous-family-report-of-a-new-infantile-onset-case-and-brief-review-of-the-literature
#18
Mohammad A Al-Muhaizea, Faten AlMutairi, Rawan Almass, Safinaz AlHarthi, Mazhor S Aldosary, Maysoon Alsagob, Ali AlOdaib, Dilek Colak, Namik Kaya
The objective of this study was the identification of likely genes and mutations associated with an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients with infantile onset, from a consanguineous family. Using genome-wide SNP screening, autozygosity mapping, targeted Sanger sequencing and nextgen sequencing, family segregation analysis, and comprehensive neuropanel, we discovered a novel mutation in SPTBN2. Next, we utilized multiple sequence alignment of amino acids from various species as well as crystal structures provided by protein data bank (PDB# 1WYQ and 1WJM) to model the mutation site and its effect on β-III-spectrin...
December 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/29181771/correction-to-spg7-and-impaired-emotional-communication
#19
Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizawa
The original version of this article unfortunately contained an incorrect assignment of affiliations of Linwei Zhang and Tetsuo Ashizawa.
November 27, 2017: Cerebellum
https://www.readbyqxmd.com/read/29178021/epigenetic-drivers-in-pediatric-medulloblastoma
#20
REVIEW
Martine F Roussel, Jennifer L Stripay
Epigenetics is the process by which gene expression is regulated by events other than alterations of the genome. This includes DNA methylation, histone modifications, chromatin remodeling, microRNAs, and long non-coding RNAs. Methylation of DNA, chromatin remodeling, and histone modifications regulate the chromatin and access of transcription factors to DNA and in turn gene transcription. Alteration of chromatin is now recognized to be deregulated in many cancers. Medulloblastoma is an embryonal tumor of the cerebellum and the most common malignant brain tumor in children, that occurs only rarely in adults...
November 25, 2017: Cerebellum
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