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Cerebellum

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https://www.readbyqxmd.com/read/28940157/climbing-fiber-development-is-impaired-in-postnatal-car8-wdl-mice
#1
Lauren N Miterko, Roy V Sillitoe
The cerebellum is critical for an array of motor functions. During postnatal development, the Purkinje cells (PCs) guide afferent topography to establish the final circuit. Perturbing PC morphogenesis or activity during development can result in climbing fiber (CF) multi-innervation or mis-patterning. Structural defects during circuit formation typically have long-term effects on behavior as they contribute to the phenotype of movement disorders such as cerebellar ataxia. The Car8 (wdl) mouse is one model in which early circuit destruction influences movement...
September 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28940047/epidemiology-of-cerebellar-diseases-and-therapeutic-approaches
#2
REVIEW
Michael S Salman
Diseases involving the cerebellum occur relatively commonly in children and adults around the globe. Many factors influence their epidemiology including geography, ethnicity, consanguinity, and the methodology used to ascertain patients. In addition, reliable epidemiological data rely heavily on accurate disease classification. Continuous advances in genetic research and neuroimaging modalities have resulted in improved understanding of cerebellar diseases and have led to several revisions in their classification...
September 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28921485/the-neglected-cerebello-limbic-pathways-and-neuropsychological-features-of-the-cerebellum-in-emotion
#3
LETTER
Paolo Flace, Angelo Quartarone, Giovanni Colangelo, Demetrio Milardi, Alberto Cacciola, Giuseppina Rizzo, Paolo Livrea, Giuseppe Anastasi
No abstract text is available yet for this article.
September 18, 2017: Cerebellum
https://www.readbyqxmd.com/read/28895081/novel-de-novo-kcnd3-mutation-in-a-japanese-patient-with-intellectual-disability-cerebellar-ataxia-myoclonus-and-dystonia
#4
Masanori Kurihara, Hiroyuki Ishiura, Takuya Sasaki, Juuri Otsuka, Toshihiro Hayashi, Yasuo Terao, Takashi Matsukawa, Jun Mitsui, Juntaro Kaneko, Kazutoshi Nishiyama, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Jun Shimizu, Shoji Tsuji
Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disability, early onset cerebellar ataxia, myoclonus, and dystonia without a family history. MRI showed cerebellar atrophy, and electroencephalograms showed paroxysmal sharp waves during hyperventilation and photic stimulation. Trio whole-exome sequencing analysis of DNA samples from the patient and his parents revealed a de novo novel missense mutation (c...
September 11, 2017: Cerebellum
https://www.readbyqxmd.com/read/28887803/psychosis-in-spinocerebellar-ataxias-a-case-series-and-study-of-tyrosine-hydroxylase-in-substantia-nigra
#5
Katherine W Turk, Margaret E Flanagan, Samuel Josephson, C Dirk Keene, Suman Jayadev, Thomas D Bird
Spinocerebellar ataxias are a genetically heterogeneous group of degenerative diseases typically characterized by progressive ataxia and to various degrees, neuropathy, amyotrophy, and ocular abnormalities. There is increasing evidence for non-motor manifestations associated with cerebellar syndromes including cognitive and psychiatric features. We studied a retrospective clinical case series of eight subjects with spinocerebellar ataxias (SCAs) 2, 3, 7, and 17, all displaying features of psychosis, and also measured tyrosine hydroxylase (TH) staining of the substantia nigra (SN) at autopsy, among four of the subjects...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28887630/ncb5or-deficiency-in-the-cerebellum-and-midbrain-leads-to-dehydration-and-alterations-in-thirst-response-fasted-feeding-behavior-and-voluntary-exercise-in-mice
#6
Matthew A Stroh, Michelle K Winter, Kenneth E McCarson, John P Thyfault, Hao Zhu
Cytosolic NADH-cytochrome-b5-oxidoreductase (NCB5OR) is ubiquitously expressed in animal tissues. We have previously reported that global ablation of NCB5OR in mice results in early-onset lean diabetes with decreased serum leptin levels and increased metabolic and feeding activities. The conditional deletion of NCB5OR in the mouse cerebellum and midbrain (conditional knock out, CKO mice) results in local iron dyshomeostasis and altered locomotor activity. It has been established that lesion to or removal of the cerebellum leads to changes in nutrient organization, visceral response, feeding behavior, and body weight...
September 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28875335/facilitation-of-fast-backward-priming-after-left-cerebellar-continuous-theta-burst-stimulation
#7
Louise S T Allen-Walker, R Martyn Bracewell, Guillaume Thierry, Paloma Mari-Beffa
Traditional theories of backward priming account only for the priming effects found at long stimulus onset asynchronies (SOAs). Here, we suggest that the presence of backward priming at short SOAs may be related to the integrative role of the cerebellum. Previous research has shown that the right cerebellum is involved in forward associative priming. Functional magnetic resonance imaging reveals some activation of the left cerebellar hemisphere during backward priming; but what this activation represents is unclear...
September 5, 2017: Cerebellum
https://www.readbyqxmd.com/read/28844105/the-floccular-syndrome-dynamic-changes-in-eye-movements-and-vestibulo-ocular-reflex-in-isolated-infarction-of-the-cerebellar-flocculus
#8
Dario Andres Yacovino, Manuel Perez Akly, Leonel Luis, David S Zee
The cerebellar flocculus is a critical structure involved in the control of eye movements. Both static and dynamic abnormalities of the vestibulo-ocular reflex (VOR) have been described in animals with experimental lesions of the flocculus/paraflocculus complex. In humans, lesions restricted to the flocculus are rare so they can become an exceptional model to contrast with the clinical features in experimental animals or in patients with more generalized cerebellar diseases. Here, we examined a 67-year-old patient with an acute vestibular syndrome due to an isolated infarct of the right flocculus...
August 26, 2017: Cerebellum
https://www.readbyqxmd.com/read/28840476/making-sense-of-cerebellar-contributions-to-perceptual-and-motor-adaptation
#9
Matthew A Statton, Alejandro Vazquez, Susanne M Morton, Erin V L Vasudevan, Amy J Bastian
The cerebellum is thought to adapt movements to changes in the environment in order to update an implicit understanding of the association between our motor commands and their sensory consequences. This trial-by-trial motor recalibration in response to external perturbations is frequently impaired in people with cerebellar damage. In healthy people, adaptation to motor perturbations is also known to induce a form of sensory perceptual recalibration. For instance, hand-reaching adaptation tasks produce transient changes in the sense of hand position, and walking adaptation tasks can lead to changes in perceived leg speed...
August 24, 2017: Cerebellum
https://www.readbyqxmd.com/read/28791574/heterotopic-purkinje-cells-a-comparative-postmortem-study-of-essential-tremor-and-spinocerebellar-ataxias-1-2-3-and-6
#10
Elan D Louis, Sheng-Han Kuo, William J Tate, Geoffrey C Kelly, Jesus Gutierrez, Etty P Cortes, Jean-Paul G Vonsattel, Phyllis L Faust
Essential tremor (ET) is among the most common neurological diseases. Postmortem studies have noted a series of pathological changes in the ET cerebellum. Heterotopic Purkinje cells (PCs) are those whose cell body is mis-localized in the molecular layer. In neurodegenerative settings, these are viewed as a marker of the progression of neuronal degeneration. We (1) quantify heterotopias in ET cases vs. controls, (2) compare ET cases to other cerebellar degenerative conditions (spinocerebellar ataxias (SCAs) 1, 2, 3, and 6), (3) compare these SCAs to one another, and (4) assess heterotopia within the context of associated PC loss in each disease...
August 8, 2017: Cerebellum
https://www.readbyqxmd.com/read/28786014/targeting-the-human-cerebellum-with-transcranial-direct-current-stimulation-to-modulate-behavior-a-meta-analysis
#11
REVIEW
Viola Oldrati, Dennis J L G Schutter
Transcranial direct current stimulation (tDCS) is increasingly used to study motor- and non-motor-related functions of the cerebellum. The aim of the present study was to quantitatively review available studies to estimate the efficacy of cerebellar tDCS in altering motor- and cognitive-related behavioral performance in healthy volunteers. The present meta-analysis included 32 sham-controlled studies. Results from random effects modeling of the cumulative effect size demonstrated that anodal and cathodal tDCS to the cerebellum were effective in changing performance...
August 7, 2017: Cerebellum
https://www.readbyqxmd.com/read/28710677/cerebellar-contributions-to-persistent-auditory-verbal-hallucinations-in-patients-with-schizophrenia
#12
Maximilian Cierpka, Nadine D Wolf, Katharina M Kubera, Mike M Schmitgen, Nenad Vasic, Karel Frasch, Robert Christian Wolf
There is growing evidence that the cerebellum plays a crucial role in the pathophysiology of schizophrenia symptoms. Despite increasing evidence for cerebellar involvement in affective, attentive, and cognitive functions including language processing and perception, investigations of cerebellar contributions to auditory verbal hallucinations (AVH) in schizophrenia are lacking. Using structural magnetic resonance imaging at 3T, we investigated the data of 20 patients with schizophrenia and 14 matched healthy controls...
July 14, 2017: Cerebellum
https://www.readbyqxmd.com/read/28699106/promoter-variant-alters-expression-of-the-autophagic-becn1-gene-implications-for-clinical-manifestations-of-machado-joseph-disease
#13
Nadiya Kazachkova, Mafalda Raposo, Amanda Ramos, Rafael Montiel, Manuela Lima
Autophagy is especially important in disorders where accumulation of the mutant protein is a hallmark, such as the Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3). We analyzed the promoter of the BECN1 gene, whose overexpression has been reported to exert neuroprotective effects in MJD, with the aim of finding variants that could be associated with expression levels of beclin-1 and could be tested as modifiers of onset and disease severity. A fragment encompassing the BECN1 promoter was sequenced in 95 MJD subjects and 120 controls...
July 11, 2017: Cerebellum
https://www.readbyqxmd.com/read/28669058/improved-neuroimaging-atlas-of-the-dentate-nucleus
#14
Naying He, Jason Langley, Daniel E Huddleston, Huawei Ling, Hongmin Xu, Chunlei Liu, Fuhua Yan, Xiaoping P Hu
The dentate nucleus (DN) of the cerebellum is the major output nucleus of the cerebellum and is rich in iron. Quantitative susceptibility mapping (QSM) provides better iron-sensitive MRI contrast to delineate the boundary of the DN than either T2-weighted images or susceptibility-weighted images. Prior DN atlases used T2-weighted or susceptibility-weighted images to create DN atlases. Here, we employ QSM images to develop an improved dentate nucleus atlas for use in imaging studies. The DN was segmented in QSM images from 38 healthy volunteers...
July 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/28660440/neurocognitive-characterization-of-an-sca28-family-caused-by-a-novel-afg3l2-gene-mutation
#15
Laszlo Szpisjak, Viola L Nemeth, Noemi Szepfalusi, Denes Zadori, Zoltan Maroti, Tibor Kalmar, Laszlo Vecsei, Peter Klivenyi
No abstract text is available yet for this article.
June 28, 2017: Cerebellum
https://www.readbyqxmd.com/read/28456900/nessca-validation-and-responsiveness-of-several-rating-scales-in-spinocerebellar-ataxia-type-2
#16
Thais L Monte, Estela R Reckziegel, Marina C Augustin, Amanda S P Silva, Lucas D Locks-Coelho, Orlando Barsottini, José L Pedroso, Fernando R Vargas, Maria-Luiza Saraiva-Pereira, Vanessa Bielefeldt Leotti, Laura Bannach Jardim
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. While validated ataxia scales are available, comprehensive instruments to measure all SCA2 neurological manifestations are required. This study aims to validate the Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) to be used in SCA2 and to compare its responsiveness to those obtained with other instruments. NESSCA, SARA, SCAFI, and CCFS scales were applied in symptomatic SCA2 patients...
August 2017: Cerebellum
https://www.readbyqxmd.com/read/28456899/mesenchymal-stem-cell-derived-factors-restore-function-to-human-frataxin-deficient-cells
#17
Kevin Kemp, Rimi Dey, Amelia Cook, Neil Scolding, Alastair Wilkins
Friedreich's ataxia is an inherited neurological disorder characterised by mitochondrial dysfunction and increased susceptibility to oxidative stress. At present, no therapy has been shown to reduce disease progression. Strategies being trialled to treat Friedreich's ataxia include drugs that improve mitochondrial function and reduce oxidative injury. In addition, stem cells have been investigated as a potential therapeutic approach. We have used siRNA-induced knockdown of frataxin in SH-SY5Y cells as an in vitro cellular model for Friedreich's ataxia...
August 2017: Cerebellum
https://www.readbyqxmd.com/read/28444617/computational-theory-underlying-acute-vestibulo-ocular-reflex-motor-learning-with-cerebellar-long-term-depression-and-long-term-potentiation
#18
Keiichiro Inagaki, Yutaka Hirata
The vestibulo-ocular reflex (VOR) can be viewed as an adaptive control system that maintains compensatory eye movements during head motion. As the cerebellar flocculus is intimately involved in this adaptive motor control of the VOR, the VOR has been a popular model system for investigating cerebellar motor learning. Long-term depression (LTD) and long-term potentiation (LTP) at the parallel fiber-Purkinje cell synapses are considered to play major roles in cerebellar motor learning. A recent study using mutant mice demonstrated cerebellar motor learning with hampered LTD; the study concluded that the parallel fiber-Purkinje cell LTD is not essential...
August 2017: Cerebellum
https://www.readbyqxmd.com/read/28439779/searching-for-an-internal-representation-of-stimulus-kinematics-in-the-response-of-ventral-paraflocculus-purkinje-cells
#19
Pablo M Blazquez, GyuTae Kim, Tatyana A Yakusheva
Motor control theories propose that the central nervous system builds internal representations of the motion of both our body and external objects. These representations, called forward models, are essential for accurate motor control. For instance, to produce a precise reaching movement to catch a flying ball, the central nervous system must build predictions of the current and future states of both the arm and the ball. Accumulating evidence suggests that the cerebellar cortex contains a forward model of an individual's body movement...
August 2017: Cerebellum
https://www.readbyqxmd.com/read/28656525/hypomagnesemia-a-treatable-cause-of-ataxia-with-cerebellar-edema
#20
LETTER
Idoia Rouco Axpe, Javier Almeida Velasco, Jose Guillermo Barreiro Garcia, Jose Manuel Urbizu Gallardo, Beatriz Mateos Goñi
No abstract text is available yet for this article.
June 27, 2017: Cerebellum
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