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Cerebellum

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https://www.readbyqxmd.com/read/28321713/low-titre-gad-antibody-associated-late-onset-cerebellar-ataxia-with-a-significant-clinical-response-to-intravenous-immunoglobulin-treatment
#1
Timotej Petrijan, Marija Menih
Antiglutamic acid decarboxylase antibody-associated cerebellar ataxia (GAD-Abs CA) is a rare, but increasingly detected, autoimmune neurological disorder characterized by the clinical presence of a cerebellar syndrome concomitant with positive GAD-Abs levels in serum and cerebrospinal fluid (CSF). It represents 3% of all immune-mediated sporadic CAs. Low-titre GAD-Abs CA is an even rarer subtype of GAD-Abs CA. We report on a 68-year-old woman with a 3-year history of progressive gait ataxia. In addition to the modified Rankin Scale (mRS), we used two other objective scales to evaluate CA severity, i...
March 20, 2017: Cerebellum
https://www.readbyqxmd.com/read/28303385/after-effects-of-cerebellar-continuous-theta-burst-stimulation-on-reflexive-saccades-and-smooth-pursuit-in-humans
#2
Silvia Colnaghi, P Colagiorgio, S Ramat, E D'Angelo, G Koch, M Versino
The use of cerebellar repetitive transcranial magnetic stimulation has been attempted for perturbing reflexive and voluntary eye movements, but discrepancies are seen between the results of distinct studies possibly due to the different stimulation sites, intensities, and paradigms. We describe the after effects of 20 and 40 s continuous Theta Burst Stimulation (cTBS) as compared to sham stimulation, applied over the lateral cerebellar vermis and paravermis on Reflexive Saccades (RS) and Smooth Pursuit (SP) eye movements, recorded in the 30 min following stimulation...
March 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/28229372/measuring-inhibition-and-cognitive-flexibility-in-friedreich-ataxia
#3
Louise A Corben, Felicity Klopper, Monique Stagnitti, Nellie Georgiou-Karistianis, John L Bradshaw, Gary Rance, Martin B Delatycki
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with subtle impact on cognition. Inhibitory processes and cognitive flexibility were examined in FRDA by assessing the ability to suppress a predictable verbal response. We administered the Hayling Sentence Completion Test (HSCT), the Trail Making Test, and the Stroop Test to 43 individuals with FRDA and 42 gender- and age-matched control participants. There were no significant group differences in performance on the Stroop or Trail Making Test whereas significant impairment in cognitive flexibility including the ability to predict and inhibit a pre-potent response as measured in the HSCT was evident in individuals with FRDA...
February 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28224454/effects-of-sustained-otolith-only-stimulation-on-post-rotational-nystagmus
#4
Aasef G Shaikh, David Solomon
Constant velocity rotations in darkness evoke vestibulo-ocular reflex in form of pre- and post-rotational nystagmus under cerebellar supervision. Reorientation of the head with respect to gravity, stimulating otolith and semicircular canal, during post-rotational phase rapidly suppresses the post-rotational nystagmus. We asked if pure otolith stimulation without semicircular canal signal is sufficient for the suppression of post-rotational nystagmus. The experimental paradigm comprised of on-axis rotations in the horizontal plane when the subject was sitting upright, followed by a novel stimulus that combined off-axis centrifugation in the horizontal plane with amplitude matched, yet out-of-phase, on-axis horizontal rotation-double centrifugation...
February 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28215041/the-known-and-missing-links-between-the-cerebellum-basal-ganglia-and-cerebral-cortex
#5
LETTER
Alberto Cacciola, Demetrio Milardi, Paolo Livrea, Paolo Flace, Giuseppe Anastasi, Angelo Quartarone
No abstract text is available yet for this article.
February 18, 2017: Cerebellum
https://www.readbyqxmd.com/read/28155138/cerebellar-neural-circuits-involving-executive-control-network-predict-response-to-group-cognitive-behavior-therapy-in-social-anxiety-disorder
#6
MinlanYuan, Yajing Meng, Yan Zhang, Xiaojing Nie, Zhengjia Ren, Hongru Zhu, Yuchen Li, Su Lui, Qiyong Gong, Changjian Qiu, Wei Zhang
Some intrinsic connectivity networks including the default mode network (DMN) and executive control network (ECN) may underlie social anxiety disorder (SAD). Although the cerebellum has been implicated in the pathophysiology of SAD and several networks relevant to higher-order cognition, it remains unknown whether cerebellar areas involved in DMN and ECN exhibit altered resting-state functional connectivity (rsFC) with cortical networks in SAD. Forty-six patients with SAD and 64 healthy controls (HC) were included and submitted to the baseline resting-state functional magnetic resonance imaging (fMRI)...
February 2, 2017: Cerebellum
https://www.readbyqxmd.com/read/28150130/three-year-follow-up-of-high-dose-ubiquinol-supplementation-in-a-case-of-familial-multiple-system-atrophy-with-compound-heterozygous-coq2-mutations
#7
Jun Mitsui, Ken Koguchi, Toshimitsu Momose, Miwako Takahashi, Takashi Matsukawa, Tsutomu Yasuda, Shin-Ichi Tokushige, Hiroyuki Ishiura, Jun Goto, Shigeaki Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, Shoji Tsuji
We report a 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy (MSA) with compound heterozygous nonsense (R387X) and missense (V393A) mutations in COQ2. A high-dose ubiquinol supplementation substantially increased total coenzyme Q10 levels in cerebrospinal fluid as well as in plasma. The patient was at the advanced stage of MSA, and the various scores of clinical rating scales remained stable without changes during the 3 years. The cerebral metabolic ratio of oxygen measured by (15)O2 PET, however, increased by approximately 30% after administration of ubiquinol, suggesting that ubiquinol can improve mitochondrial oxidative metabolism in the brain...
February 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/28127679/motion-illusion-evidence-towards-human-vestibulo-thalamic-projections
#8
Aasef G Shaikh, Dominik Straumann, Antonella Palla
Contemporary studies speculated that cerebellar network responsible for motion perception projects to the cerebral cortex via vestibulo-thalamus. Here, we sought for the physiological properties of vestibulo-thalamic pathway responsible for the motion perception. Healthy subjects and the patient with focal vestibulo-thalamic lacunar stroke spun a hand-held rheostat to approximate the value of perceived angular velocity during whole-body passive earth-vertical axis rotations in yaw plane. Vestibulo-ocular reflex was simultaneously measured with high-resolution search coils (paradigm 1)...
January 27, 2017: Cerebellum
https://www.readbyqxmd.com/read/28102462/cerebellar-pathways-in-mouse-model-of-purkinje-cell-degeneration-detected-by-high-angular-resolution-diffusion-imaging-tractography
#9
Yuri Kanamaru, Jianxue Li, Natalie Stewart, Richard L Sidman, Emi Takahashi
Cerebellar MR imaging has several challenging aspects, due to the fine, repetitive layered structure of cortical folia with underlying axonal pathways. In this MR study, we imaged with high-angular resolution diffusion imaging (HARDI) abnormal cerebellar cortical structure (gray matter) and myelinated axonal pathways (white matter) of a mouse spontaneous mutation, Purkinje cell degeneration (pcd), in which almost all Purkinje neurons degenerate, mainly between postnatal days 20 and 35. Mouse brains at postnatal day 20 (P20) and at 8 months were scanned, and known or expected abnormalities, such as reduction of the white matter volume, disorganized pathways likely linked to parallel fibers, mossy fibers, and other fibers running from/to the cerebellar cortex were observed in mutant mice...
January 19, 2017: Cerebellum
https://www.readbyqxmd.com/read/28091863/fast-progression-of-cerebellar-atrophy-in-pla2g6-associated-infantile-neuronal-axonal-dystrophy
#10
Mario Mascalchi, Francesco Mari, Beatrice Berti, Emanuele Bartolini, Matteo Lenge, Andrea Bianchi, Laura Antonucci, Filippo M Santorelli, Barbara Garavaglia, Renzo Guerrini
Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (t 0) and 36 months (t 1) in patient 1 and at age 22 (t 0) and 31 months (t 1) in patient 2. Data at t 0 were compared to those obtained in 18 control children aged 14-44 months with normal MRI...
January 14, 2017: Cerebellum
https://www.readbyqxmd.com/read/28054224/commentary-on-the-paper-progression-of-gait-ataxia-in-patients-with-degenerative-cerebellar-disorders-a-4-year-follow-up-study
#11
LETTER
Mariano Serrao
No abstract text is available yet for this article.
January 5, 2017: Cerebellum
https://www.readbyqxmd.com/read/28032321/targeting-the-cerebellum-by-noninvasive-neurostimulation-a-review
#12
REVIEW
Kim van Dun, Florian Bodranghien, Mario Manto, Peter Mariën
Transcranial magnetic and electric stimulation of the brain are novel and highly promising techniques currently employed in both research and clinical practice. Improving or rehabilitating brain functions by modulating excitability with these noninvasive tools is an exciting new area in neuroscience. Since the cerebellum is closely connected with the cerebral regions subserving motor, associative, and affective functions, the cerebello-thalamo-cortical pathways are an interesting target for these new techniques...
December 28, 2016: Cerebellum
https://www.readbyqxmd.com/read/28032320/no-medium-term-spinocerebellar-input-plasticity-in-deep-cerebellar-nuclear-neurons-in-vivo
#13
Hannes Mogensen, Fredrik Bengtsson, Henrik Jörntell
The existence of input plasticity in the deep cerebellar nuclear (DCN) cells of the adult cerebellum could have profound implications for our understanding of cerebellar function. Whereas the existence of plastic changes in mossy fiber (mf) synaptic responses in DCN neurons has been demonstrated in juvenile slices, there has so far been no direct demonstration of this form of plasticity in the adult cerebellum in vivo. In the present paper, we recorded from neurons in the anterior interposed nucleus (AIN) and stimulated the spinocerebellar tracts (SCT) directly or via the skin to obtain mf activation and the inferior olive to activate climbing fibers (cfs) in the nonanesthetized, adult, decerebrated cat...
December 28, 2016: Cerebellum
https://www.readbyqxmd.com/read/27774574/constrained-spherical-deconvolution-tractography-reveals-cerebello-mammillary-connections-in-humans
#14
Alberto Cacciola, Demetrio Milardi, Alessandro Calamuneri, Lilla Bonanno, Silvia Marino, Pietro Ciolli, Margherita Russo, Daniele Bruschetta, Antonio Duca, Fabio Trimarchi, Angelo Quartarone, Giuseppe Anastasi
According to the classical view, the cerebellum has long been confined to motor control physiology; however, it has now become evident that it exerts several non-somatic features other than the coordination of movement and is engaged also in the regulation of cognition and emotion. In a previous diffusion-weighted imaging-constrained spherical deconvolution (CSD) tractography study, we demonstrated the existence of a direct cerebellum-hippocampal pathway, thus reinforcing the hypothesis of the cerebellar role in non-motor domains...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27734238/current-opinions-and-areas-of-consensus-on-the-role-of-the-cerebellum-in-dystonia
#15
REVIEW
Vikram G Shakkottai, Amit Batla, Kailash Bhatia, William T Dauer, Christian Dresel, Martin Niethammer, David Eidelberg, Robert S Raike, Yoland Smith, H A Jinnah, Ellen J Hess, Sabine Meunier, Mark Hallett, Rachel Fremont, Kamran Khodakhah, Mark S LeDoux, Traian Popa, Cécile Gallea, Stéphane Lehericy, Andreea C Bostan, Peter L Strick
A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27726094/cerebellar-pathology-in-early-onset-and-late-onset-essential-tremor
#16
Sheng-Han Kuo, Jie Wang, William J Tate, Ming-Kai Pan, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Elan D Louis, Phyllis L Faust
Early onset and late onset essential tremor (ET) cases differ in several respects. Whether they differ with respect to cerebellar pathologic changes remains to be determined. We quantified a broad range of postmortem features (Purkinje cell (PC) counts, PC axonal torpedoes and associated axonal changes, heterotopic PCs, and hairy basket ratings) in 30 ET cases with age of tremor onset <50 years, 30 ET cases with age of tremor onset ≥50 years, and 30 controls (total n = 90). We also used two alternative age of onset cut-points (<40 vs...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27709457/defining-trends-in-global-gene-expression-in-arabian-horses-with-cerebellar-abiotrophy
#17
E Y Scott, M C T Penedo, J D Murray, C J Finno
Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27557734/spg7-and-impaired-emotional-communication
#18
Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizawa
The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in each individual. We found compound heterozygous mutations in the paraplegin (SPG7) gene. One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27271711/hereditary-spastic-paraplegia-clinical-and-genetic-hallmarks
#19
REVIEW
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27255706/diffusion-tensor-tractography-of-the-cerebellar-peduncles-in-prematurely-born-7-year-old-children
#20
Eilon Shany, Terrie E Inder, Sharon Goshen, Iris Lee, Jeffrey J Neil, Christopher D Smyser, Lex W Doyle, Peter J Anderson, Joshua S Shimony
The objective of this study was to correlate neurodevelopmental outcome of preterm-born children and their perinatal clinical and imaging characteristics with diffusion magnetic resonance imaging (MRI) measures of the three cerebellar peduncles at age 7. Included in this prospective longitudinal study were 140 preterm-born children (<30 weeks gestation) who underwent neurodevelopmental assessment (IQ, motor, language, working memory) and diffusion-weighted imaging (DWI) at age 7 years. White matter tracts in the superior, middle, and inferior cerebellar peduncles were delineated using regions of interest drawn on T2-weighted images and fractional anisotropy (FA) maps...
April 2017: Cerebellum
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