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Cerebellum

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https://www.readbyqxmd.com/read/30229425/hispanic-spinocerebellar-ataxia-type-35-sca35-with-a-novel-frameshift-mutation
#1
Chih-Chun Lin, Shi-Rui Gan, Deepak Gupta, Armin Alaedini, Peter H Green, Sheng-Han Kuo
Genetic mutations in transglutaminase 6 (TGM6) are recently identified to be associated with spinocerebellar ataxia type 35 (SCA35). We report a Hispanic SCA35 patient, who was confirmed to have a heterozygous, single-nucleotide deletion in TGM6, causing a frameshift mutation with a premature stop codon. An immune-mediated ataxia previously found to be associated with autoantibody reactivity to TG6 may share a similar pathomechanism to SCA35, suggesting a converging role for TG6 in cerebellar function.
September 18, 2018: Cerebellum
https://www.readbyqxmd.com/read/30219976/selective-forces-related-to-spinocerebellar-ataxia-type-2
#2
Lucas Schenatto Sena, Raphael Machado Castilhos, Eduardo Preusser Mattos, Gabriel Vasata Furtado, José Luiz Pedroso, Orlando Barsottini, Maria Marla Paiva de Amorim, Clecio Godeiro, Maria Luiza Saraiva Pereira, Laura Bannach Jardim
Spinocerebellar ataxia type 2 (SCA2) is caused by an unstable expanded CAG repeat tract (CAGexp) at ATXN2. Although prone to selective forces such as anticipation, SCA2 frequency seems to be stable in populations. Our aim was to estimate reproductive success, segregation patterns, and role of anticipation in SCA2. Adult subjects from families with molecular diagnosis provided data about all his/her relatives. Affected and unaffected sibs older than 65.7 years of age were used to estimate reproductive success and segregation patterns...
September 15, 2018: Cerebellum
https://www.readbyqxmd.com/read/30218394/early-trajectory-prediction-in-elite-athletes
#3
Cullen B Owens, Casper de Boer, Giulia Gennari, Robin Broersen, Johan J Pel, Brian Miller, Wesley Clapp, Ysbrand D van der Werf, Chris I De Zeeuw
Cerebellar plasticity is a critical mechanism for optimal feedback control. While Purkinje cell activity of the oculomotor vermis predicts eye movement speed and direction, more lateral areas of the cerebellum may play a role in more complex tasks, including decision-making. It is still under question how this motor-cognitive functional dichotomy between medial and lateral areas of the cerebellum plays a role in optimal feedback control. Here we show that elite athletes subjected to a trajectory prediction, go/no-go task manifest superior subsecond trajectory prediction accompanied by optimal eye movements and changes in cognitive load dynamics...
September 14, 2018: Cerebellum
https://www.readbyqxmd.com/read/30206795/repeated-spiral-drawings-in-essential-tremor-a-possible-limb-based-measure-of-motor-learning
#4
Christine Y Kim, Lan Luo, Qiping Yu, Ana Mirallave, Rachel Saunders-Pullman, Richard B Lipton, Elan D Louis, Seth L Pullman
To investigate changes in tremor severity over repeated spiral drawings to assess whether learning deficits can be evaluated directly in a limb in essential tremor (ET). A motor learning deficit in ET, possibly mediated by cerebellar pathways, has been established in eye-blink conditioning studies, but not paradigms measuring from an affected, tremulous limb. Computerized spiral analysis captures multiple characteristics of Archimedean spirals and quantifies performance through calculated indices. Sequential spiral drawing has recently been suggested to demonstrate improvement across trials among ET subjects...
September 11, 2018: Cerebellum
https://www.readbyqxmd.com/read/30155831/extinction-and-renewal-of-conditioned-eyeblink-responses-in-focal-cerebellar-disease
#5
Katharina M Steiner, Yvonne Gisbertz, Dae-In Chang, Björn Koch, Ellen Uslar, Jens Claassen, Elke Wondzinski, Thomas M Ernst, Sophia L Göricke, Mario Siebler, Dagmar Timmann
Extinction of conditioned aversive responses (CR) has been shown to be context-dependent. The hippocampus and prefrontal cortex are of particular importance. The cerebellum may contribute to context-related processes because of its known connections with the hippocampus and prefrontal cortex. Context dependency of extinction can be demonstrated by the renewal effect. When CR acquisition takes place in context A and is extinguished in context B, renewal refers to the recovery of the CR in context A (A-B-A paradigm)...
August 28, 2018: Cerebellum
https://www.readbyqxmd.com/read/30136028/gravity-independent-upbeat-nystagmus-in-syndrome-of-anti-gad-antibodies
#6
Daniel Feldman, Jorge Otero-Millan, Aasef G Shaikh
An autoimmune disorder of the central nervous system, stiff person syndrome, frequently presents with increased titers of 65KD anti-glutamic acid decarboxylase (anti-GAD) antibodies. The clinical phenomenology of this syndrome includes stiffness, ataxia, vertigo due to horizontal gaze-evoked and downbeat vertical nystagmus, and dysmetria of saccades and reaching movements. Here, we describe a novel phenomenology of syndrome of anti-GAD antibody, non-position-dependent upbeat nystagmus and superimposed horizontal gaze-evoked nystagmus...
August 22, 2018: Cerebellum
https://www.readbyqxmd.com/read/30117122/both-50-and-30-hz-continuous-theta-burst-transcranial-magnetic-stimulation-depresses-the-cerebellum
#7
Nicholas D J Strzalkowski, Aaron D Chau, Liu Shi Gan, Zelma H T Kiss
The cerebellum is implicated in the pathophysiology of numerous movement disorders, which makes it an attractive target for noninvasive neurostimulation. Continuous theta burst stimulation (cTBS) can induce long lasting plastic changes in human brain; however, the efficacy of different simulation protocols has not been investigated at the cerebellum. Here, we compare a traditional 50-Hz and a modified 30-Hz cTBS protocols at modulating cerebellar activity in healthy subjects. Seventeen healthy adults participated in two testing sessions where they received either 50-Hz (cTBS50 ) or 30-Hz (cTBS30 ) cerebellar cTBS...
August 16, 2018: Cerebellum
https://www.readbyqxmd.com/read/30109601/common-genetic-variants-link-the-abnormalities-in-the-gut-brain-axis-in-prematurity-and-autism
#8
REVIEW
Elżbieta M Sajdel-Sulkowska, Monika Makowska-Zubrycka, Katarzyna Czarzasta, Kaja Kasarello, Vishal Aggarwal, Michał Bialy, Ewa Szczepanska-Sadowska, Agnieszka Cudnoch-Jedrzejewska
This review considers a link between prematurity and autism by comparing symptoms, physiological abnormalities, and behavior. It focuses on the bidirectional signaling between the microbiota and the brain, here defined as the microbiota-gut-vagus-heart-brain (MGVHB) axis and its systemic disruption accompanying altered neurodevelopment. Data derived from clinical and animal studies document increased prevalence of gastrointestinal, cardiovascular, cognitive, and behavioral symptoms in both premature and autistic children and suggest an incomplete maturation of the gut-blood barrier resulting in a "leaky gut," dysbiosis, abnormalities in vagal regulation of the heart, altered development of specific brain regions, and behavior...
August 14, 2018: Cerebellum
https://www.readbyqxmd.com/read/30078120/high-degree-of-genetic-heterogeneity-for-hereditary-cerebellar-ataxias-in-australia
#9
Ce Kang, Christina Liang, Kate E Ahmad, Yufan Gu, Sue-Faye Siow, James G Colebatch, Scott Whyte, Karl Ng, Philip D Cremer, Alastair J Corbett, Ryan L Davis, Tony Roscioli, Mark J Cowley, Jin-Sung Park, Carolyn M Sue, Kishore R Kumar
Genetic testing strategies such as next-generation sequencing (NGS) panels and whole genome sequencing (WGS) can be applied to the hereditary cerebellar ataxias (HCAs), but their exact role in the diagnostic pathway is unclear. We aim to determine the yield from genetic testing strategies and the genetic and phenotypic spectrum of HCA in Australia by analysing real-world data. We performed a retrospective review on 87 HCA cases referred to the Neurogenetics Clinic at the Royal North Shore Hospital, Sydney, Australia...
August 4, 2018: Cerebellum
https://www.readbyqxmd.com/read/30069836/patients-with-cerebellar-ataxia-do-not-benefit-from-limb-weights
#10
Amanda M Zimmet, Noah J Cowan, Amy J Bastian
Patients with cerebellar ataxia are sometimes treated by the addition of mass to the limbs, though this practice has received limited study. Recent work suggests that adding mass to the limbs might have predictable effects on the pattern of cerebellar dysmetria (i.e., over or undershooting) that depends on a hypothesized mismatch between the actual limb inertia and the brain's estimate of limb inertia. Based on this model, we predicted that addition of mass would only be effective in reducing dysmetria in hypometric patients...
August 1, 2018: Cerebellum
https://www.readbyqxmd.com/read/30069835/depressed-by-learning-heterogeneity-of-the-plasticity-rules-at-parallel-fiber-synapses-onto-purkinje-cells
#11
REVIEW
Aparna Suvrathan, Jennifer L Raymond
Climbing fiber-driven long-term depression (LTD) of parallel fiber synapses onto cerebellar Purkinje cells has long been investigated as a putative mechanism of motor learning. We recently discovered that the rules governing the induction of LTD at these synapses vary across different regions of the cerebellum. Here, we discuss the design of LTD induction protocols in light of this heterogeneity in plasticity rules. The analytical advantages of the cerebellum provide an opportunity to develop a deeper understanding of how the specific plasticity rules at synapses support the implementation of learning...
August 1, 2018: Cerebellum
https://www.readbyqxmd.com/read/30046996/cellular-and-subcellular-localization-of-endogenous-neuroligin-1-in-the-cerebellum
#12
Kazuya Nozawa, Ayumi Hayashi, Junko Motohashi, Yukari H Takeo, Keiko Matsuda, Michisuke Yuzaki
Synapses are precisely established, maintained, and modified throughout life by molecules called synaptic organizers, which include neurexins and neuroligins (Nlgn). Despite the importance of synaptic organizers in defining functions of neuronal circuits, the cellular and subcellular localization of many synaptic organizers has remained largely elusive because of the paucity of specific antibodies for immunohistochemical studies. In the present study, rather than raising specific antibodies, we generated knock-in mice in which a hemagglutinin (HA) epitope was inserted in the Nlgn1 gene...
July 25, 2018: Cerebellum
https://www.readbyqxmd.com/read/30039182/transcranial-direct-current-stimulation-to-assist-experienced-pistol-shooters-in-gaining-even-better-performance-scores
#13
Ali-Mohammad Kamali, Mohammad Nami, Seyedeh-Saeedeh Yahyavi, Zahra Kheradmand Saadi, Alireza Mohammadi
Recently, brain stimulation has been considered as a promising method for the empowerment of athletes' performance. This study recruited 16 pistol shooters who were randomly assigned to two arms, including the control receiving no intervention and the experimental group receiving either sham or real transcranial direct current stimulation (tDCS), i.e., anodal stimulation and cathodal suppression over the cerebellar and dorsolateral prefrontal cortex (DLPFC) regions, respectively. Our outcome measures were the score and latency to shooting, as well as number of errors and task time in the dynamic tremor and mirror-tracing tasks...
July 23, 2018: Cerebellum
https://www.readbyqxmd.com/read/30022466/cerebellar-structural-variations-in-subjects-with-different-hypnotizability
#14
E Picerni, E L Santarcangelo, D Laricchiuta, D Cutuli, L Petrosini, G Spalletta, F Piras
Hypnotizability-the proneness to accept suggestions and behave accordingly-has a number of physiological and behavioral correlates (postural, visuomotor, and pain control) which suggest a possible involvement of cerebellar function and/or structure. The present study was aimed at investigating the association between cerebellar macro- or micro-structural variations (analyzed through a voxel-based morphometry and a diffusion tensor imaging approach) and hypnotic susceptibility. We also estimated morphometric variations of cerebral gray matter structures, to support current evidence of hypnotizability-related differences in some cerebral areas...
July 18, 2018: Cerebellum
https://www.readbyqxmd.com/read/30009357/multiple-phases-of-climbing-fiber-synapse-elimination-in-the-developing-cerebellum
#15
REVIEW
Masanobu Kano, Takaki Watanabe, Naofumi Uesaka, Masahiko Watanabe
Functional neural circuits in the mature animals are shaped during postnatal development by elimination of unnecessary synapses and strengthening of necessary ones among redundant synaptic connections formed transiently around birth. In the cerebellum of neonatal rodents, excitatory synapses are formed on the somata of Purkinje cells (PCs) by climbing fibers (CFs) that originate from neurons in the contralateral inferior olive. Each PC receives inputs from multiple (~ five) CFs that have about equal synaptic strengths...
July 16, 2018: Cerebellum
https://www.readbyqxmd.com/read/29995220/regulation-and-interaction-of-multiple-types-of-synaptic-plasticity-in-a-purkinje-neuron-and-their-contribution-to-motor-learning
#16
REVIEW
Tomoo Hirano
There are multiple types of plasticity at both excitatory glutamatergic and inhibitory GABAergic synapses onto a cerebellar Purkinje neuron (PN). At parallel fiber to PN synapses, long-term depression (LTD) and long-term potentiation (LTP) occur, while at molecular layer interneuron to PN synapses, a type of LTP called rebound potentiation (RP) takes place. LTD, LTP, and RP seem to contribute to motor learning. However, each type of synaptic plasticity might play a different role in various motor learning paradigms...
July 11, 2018: Cerebellum
https://www.readbyqxmd.com/read/29987489/intravenously-administered-novel-liposomes-dcl64-deliver-oligonucleotides-to-cerebellar-purkinje-cells
#17
Ana Tari Ashizawa, Jenny Holt, Kelsey Faust, Weier Liu, Anjana Tiwari, Nan Zhang, Tetsuo Ashizawa
Cerebellar Purkinje cells (PCs) show conspicuous damages in many ataxic disorders. Targeted delivery of short nucleic acids, such as antisense oligonucleotides, to PCs may be a potential treatment for ataxic disorders, especially spinocerebellar ataxias (SCAs), which are mostly caused by a gain of toxic function of the mutant RNA or protein. However, oligonucleotides do not cross the blood-brain barrier (BBB), necessitating direct delivery into the central nervous system (CNS) through intra-thecal, intra-cisternal, intra-cerebral ventricular, or stereotactic parenchymal administration...
July 9, 2018: Cerebellum
https://www.readbyqxmd.com/read/29982917/complex-spike-wars-a-new-hope
#18
REVIEW
Martha L Streng, Laurentiu S Popa, Timothy J Ebner
The climbing fiber-Purkinje cell circuit is one of the most powerful and highly conserved in the central nervous system. Climbing fibers exert a powerful excitatory action that results in a complex spike in Purkinje cells and normal functioning of the cerebellum depends on the integrity of climbing fiber-Purkinje cell synapse. Over the last 50 years, multiple hypotheses have been put forward on the role of the climbing fibers and complex spikes in cerebellar information processing and motor control. Central to these theories is the nature of the interaction between the low-frequency complex spike discharge and the high-frequency simple spike firing of Purkinje cells...
July 7, 2018: Cerebellum
https://www.readbyqxmd.com/read/29949095/c-terminal-proline-deletions-in-kcnc3-cause-delayed-channel-inactivation-and-an-adult-onset-progressive-sca13-with-spasticity
#19
Swati Khare, Kira Galeano, Yalan Zhang, Jerelyn A Nick, Harry S Nick, S H Subramony, Jacinda Sampson, Leonard K Kaczmarek, Michael F Waters
Mutations in the potassium channel gene KCNC3 (Kv3.3) cause the autosomal dominant neurological disease, spinocerebellar ataxia 13 (SCA13). In this study, we expand the genotype-phenotype repertoire of SCA13 by describing the novel KCNC3 deletion p.Pro583_Pro585del highlighting the allelic heterogeneity observed in SCA13 patients. We characterize adult-onset, progressive clinical symptoms of two afflicted kindred and introduce the symptom of profound spasticity not previously associated with the SCA13 phenotype...
October 2018: Cerebellum
https://www.readbyqxmd.com/read/29949094/longitudinal-preterm-cerebellar-volume-perinatal-and-neurodevelopmental-outcome-associations
#20
Lillian G Matthews, T E Inder, L Pascoe, K Kapur, K J Lee, B B Monson, L W Doyle, D K Thompson, P J Anderson
Impaired cerebellar development is an important determinant of adverse motor and cognitive outcomes in very preterm (VPT) infants. However, longitudinal MRI studies investigating cerebellar maturation from birth through childhood and associated neurodevelopmental outcomes are lacking. We aimed to compare cerebellar volume and growth from term-equivalent age (TEA) to 7 years between VPT (< 30 weeks' gestation or < 1250 g) and full-term children; and to assess the association between these measures, perinatal factors, and 7-year outcomes in VPT children, and whether these relationships varied by sex...
October 2018: Cerebellum
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