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Cerebellum & Ataxias

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https://www.readbyqxmd.com/read/29610671/the-mystery-of-the-cerebellum-clues-from-experimental-and-clinical-observations
#1
REVIEW
Charlotte Lawrenson, Martin Bares, Anita Kamondi, Andrea Kovács, Bridget Lumb, Richard Apps, Pavel Filip, Mario Manto
The cerebellum has a striking homogeneous cytoarchitecture and participates in both motor and non-motor domains. Indeed, a wealth of evidence from neuroanatomical, electrophysiological, neuroimaging and clinical studies has substantially modified our traditional view on the cerebellum as a sole calibrator of sensorimotor functions. Despite the major advances of the last four decades of cerebellar research, outstanding questions remain regarding the mechanisms and functions of the cerebellar circuitry. We discuss major clues from both experimental and clinical studies, with a focus on rodent models in fear behaviour, on the role of the cerebellum in motor control, on cerebellar contributions to timing and our appraisal of the pathogenesis of cerebellar tremor...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29568536/cerebellar-cognitive-affective-syndrome-insights-from-joubert-syndrome
#2
Chelsea L Hickey, Janet C Sherman, Paula Goldenberg, Amy Kritzer, Paul Caruso, Jeremy D Schmahmann, Mary K Colvin
Background: Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and clinically by impaired motor functions and intellectual disability. Patients with JS often face multiple cognitive challenges, but the neuropsychological profile of this condition has not been well characterized. Methods: We performed comprehensive neurological and neuropsychological evaluations in three adult brothers with JS, ages 32, 27, and 25 years...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29564144/spinocerebellar-ataxia-17-full-phenotype-in-a-41-cag-caa-repeats-carrier
#3
Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29556411/the-combined-effect-of-cranial-nerve-non-invasive-neuromodulation-with-high-intensity-physiotherapy-on-gait-and-balance-in-a-patient-with-cerebellar-degeneration-a-case-report
#4
Andisheh Bastani, L Eduardo Cofré Lizama, Maryam Zoghi, Grant Blashki, Stephen Davis, Andrew H Kaye, Fary Khan, Mary P Galea
Background: Cranial-nerve non-invasive neuromodulation (CN-NINM) using the portable neuromodulation stimulator (PoNS™) device has been proposed as a novel adjuvant intervention to improve efficacy of gait and balance. This device modulates input and output signals during motor tasks which prompts neuroplastic changes. In this study, we investigated the efficacy of physiotherapy using the PoNS™ in a case with cerebellar degeneration. Case presentation: The PoNS™ was used during a high-intensity physiotherapy programme delivered over 2 weeks (2 × 1...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29468083/research-note-a-resting-state-cerebello-amygdaloid-intrinsically-connected-network
#5
Christophe Habas
Background: Previous ROI-based functional connectivity studies found functional coherence between cerebellum and cerebral amygdale, at rest. Moreover, some neurospychiatric symptoms were accompanied by abnormal activations of these two brain areas. Therefore, the aim of the study was to identify a putative, resting-state intrinsically connected cerebello-amygdaloid network. Methods: ICA-based analysis was performed on brain resting-state functional images of 15 volunteers...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29449954/metabotropic-glutamate-receptor-5-tracer-18-f-fpeb-displays-increased-binding-potential-in-postcentral-gyrus-and-cerebellum-of-male-individuals-with-autism-a-pilot-pet-study
#6
S Hossein Fatemi, Dean F Wong, James R Brašić, Hiroto Kuwabara, Anil Mathur, Timothy D Folsom, Suma Jacob, George M Realmuto, José V Pardo, Susanne Lee
Background: Autism is a neurodevelopmental disorder that is first manifested during early childhood. Postmortem experiments have identified significantly elevated expression of metabotropic glutamate receptor 5 (mGluR5) in cerebellar vermis and prefrontal cortex of individuals with autism. Methods: In the current study we employed the mGluR5 tracer [18 F]-3-fluoro-5-[(pyridin-3-yl)ethynyl]benzonitrile ([18 F]-FPEB) to quantify mGluR5 binding in vivo in adults with autism vs...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29445510/a-neurologist-and-ataxia-using-eye-movements-to-learn-about-the-cerebellum
#7
REVIEW
David S Zee
The cerebellum, its normal functions and its diseases, and especially its relation to the control of eye movements, has been at the heart of my academic career. Here I review how this came about, with an emphasis on epiphanies, "tipping points" and the influences of mentors, colleagues and trainees. I set a path for young academicians, both clinicians and basic scientists, with some guidelines for developing a productive and rewarding career in neuroscience.
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29372062/inferior-olivary-nucleus-degeneration-does-not-lessen-tremor-in-essential-tremor
#8
Elan D Louis, Daniel Trujillo Diaz, Sheng-Han Kuo, Shi-Rui Gan, Etty P Cortes, Jean Paul G Vonsattel, Phyllis L Faust
Background: In traditional models of essential tremor, the inferior olivary nucleus was posited to play a central role as the pacemaker for the tremor. However, recent data call this disease model into question. Case presentation: Our patient had progressive, long-standing, familial essential tremor. Upper limb tremor began at age 10 and worsened over time. It continued to worsen during the nine-year period he was enrolled in our brain donation program (age 85 - 94 years), during which time the tremor moved from the moderate to severe range on examination...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29299332/special-issue-new-horizons-in-cerebellar-research
#9
EDITORIAL
Adriana B Conforto, Dennis J L G Schutter
No abstract text is available yet for this article.
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29299331/cerebellar-ataxia-with-sensory-ganglionopathy-does-autoimmunity-have-a-role-to-play
#10
Panagiotis Zis, Ptolemaios Georgios Sarrigiannis, Dasappaiah Ganesh Rao, Nigel Hoggard, David Surendran Sanders, Marios Hadjivassiliou
Background and purpose: Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination without a genetic cause. Methods: We reviewed records of all patients that have been referred to the Sheffield Ataxia Centre who had neurophysiological and imaging data suggestive of SG and cerebellar ataxia respectively. We excluded patients with Friedreich's ataxia, a common cause of this combination...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29276612/heritability-of-saccadic-eye-movements-in-spinocerebellar-ataxia-type-2-insights-into-an-endophenotype-marker
#11
Roberto Rodríguez-Labrada, Yaimeé Vázquez-Mojena, Nalia Canales-Ochoa, Jacqueline Medrano-Montero, Luis Velázquez-Pérez
Background: Saccade slowing has been proposed as endophenotype marker in Spinocerebellar Ataxia type 2 (SCA2), nevertheless the heritability of this trait has not been properly demonstrated. Thus the present paper was aimed to assess the heritability of different saccadic parameters in SCA2. Methods: Forty-eight SCA2 patients, 25 preclinical carriers and 24 non-SCA2 mutation carriers underwent electronystagmographical assessments of saccadic eye movements as well as neurological examination and ataxia scoring...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29214039/clinical-and-genetic-analysis-of-spinocerebellar-ataxia-type-7-sca7-in-zambian-families
#12
Masharip Atadzhanov, Danielle C Smith, Mwila H Mwaba, Omar K Siddiqi, Alan Bryer, L Jacquie Greenberg
Background: To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic differences are evident in the prevalence of the autosomal dominant SCAs. Few descriptions of the clinical phenotype and molecular genetics of the SCAs are available from the African continent. Established studies mostly concern the South African populations, where there is a high frequency of SCA1, SCA2 and SCA7...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28944066/immune-mediated-cerebellar-ataxias-from-bench-to-bedside
#13
REVIEW
Hiroshi Mitoma, Mario Manto, Christiane S Hampe
The cerebellum is a vulnerable target of autoimmunity in the CNS. The category of immune-mediated cerebellar ataxias (IMCAs) was recently established, and includes in particular paraneoplastic cerebellar degenerations (PCDs), gluten ataxia (GA) and anti-GAD65 antibody (Ab) associated-CA, all characterized by the presence of autoantibodies. The significance of onconeuronal autoantibodies remains uncertain in some cases. The pathogenic role of anti-GAD65Ab has been established both in vitro and in vivo, but a consensus has not been reached yet...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28932407/effects-of-transcranial-direct-current-stimulation-on-grip-force-control-in-patients-with-cerebellar-degeneration
#14
Liane John, Michael Küper, Thomas Hulst, Dagmar Timmann, Joachim Hermsdörfer
BACKGROUND: The control of grip forces when moving a hand held object is impaired in patients with cerebellar degeneration. We asked the question whether after-effects of anodal transcranial direct current stimulation (tDCS) applied to the lateral cerebellum or M1 improved grip force control in cerebellar patients. METHODS: Grip force control while holding an object during cyclic arm movements was assessed in patients with pure cerebellar degeneration (n = 14, mean age 50...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28919980/hemicerebellitis-can-drive-handedness-shift
#15
Mario Mascalchi, Matteo Lenge, Andrea Bianchi, Emanuele Bartolini, Gioele Gavazzi, Flavio Giordano, Renzo Guerrini
BACKGROUND: Hemicerebellitisis a rare acquired condition, typical of the pediatric age. A residual switched handedness may develop after remission of acute cerebellar symptoms. CASE PRESENTATION: Herein we describe a motor functional MRI studyperformed in a 35-year old girl who had switched to left-handedness after acute right hemicerebellitis in childhood. During left hand tapping, we observed activation in the right primary sensori-motor cortex, right supplementary motor area and left superior cerebellum...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28748095/the-origin-of-mathematics-and-number-sense-in-the-cerebellum-with-implications-for-finger-counting-and-dyscalculia
#16
Larry Vandervert
BACKGROUND: Mathematicians and scientists have struggled to adequately describe the ultimate foundations of mathematics. Nobel laureates Albert Einstein and Eugene Wigner were perplexed by this issue, with Wigner concluding that the workability of mathematics in the real world is a mystery we cannot explain. In response to this classic enigma, the major purpose of this article is to provide a theoretical model of the ultimate origin of mathematics and "number sense" (as defined by S. Dehaene) that is proposed to involve the learning of inverse dynamics models through the collaboration of the cerebellum and the cerebral cortex (but prominently cerebellum-driven)...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680652/validity-and-reliability-of-a-pilot-scale-for-assessment-of-multiple-system-atrophy-symptoms
#17
Masaaki Matsushima, Ichiro Yabe, Ikuko Takahashi, Makoto Hirotani, Takahiro Kano, Kazuhiro Horiuchi, Hideki Houzen, Hidenao Sasaki
BACKGROUND: Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder for which brief yet sensitive scale is required in order for use in clinical trials and general screening. We previously compared several scales for the assessment of MSA symptoms and devised an eight-item pilot scale with large standardized response mean [handwriting, finger taps, transfers, standing with feet together, turning trunk, turning 360°, gait, body sway]. The aim of the present study is to investigate the validity and reliability of a simple pilot scale for assessment of multiple system atrophy symptoms...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680651/gray-matter-density-loss-in-essential-tremor-a-lobule-by-lobule-analysis-of-the-cerebellum
#18
Jonathan P Dyke, Eric Cameron, Nora Hernandez, Ulrike Dydak, Elan D Louis
BACKGROUND: The pathophysiological basis for essential tremor (ET) remains unclear, although evidence increasingly links it to a disordered and perhaps degenerative cerebellum. Prior imaging studies have treated the cerebellum en bloc. Our hypothesis was that regional differences in cerebellar gray matter (GM) density may better distinguish ET cases from controls. Forty-seven ET cases and 36 control subjects were imaged using magnetic resonance imaging (MRI). The cerebellum was segmented into 34 lobes using a Spatially Unbiased Infra-Tentorial Template (SUIT) atlas within the Statistical Parametric Mapping (SPM) analysis package...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28680650/stratification-of-disease-progression-in-a-broad-spectrum-of-degenerative-cerebellar-ataxias-with-a-clustering-method-using-mri-based-atrophy-rates-of-brain-structures
#19
Rie Sasaki, Futaba Maki, Daisuke Hara, Shigeaki Tanaka, Yasuhiro Hasegawa
BACKGROUND: The rate of disease progression differs among patients with degenerative cerebellar ataxia. The uncertain natural course in individual patients hinders clinical trials of promising treatments. In this study, we analyzed atrophy changes in brain structures with cluster analysis to find sub-groups of patients with homogenous symptom progression in a broad spectrum of degenerative cerebellar ataxias. METHODS: We examined 48 patients including 21 cases of spinocerebellar ataxia (SCA), 17 cases of the cerebellar type of multiple system atrophy (MSA-C), and 10 cases of cortical cerebellar ataxia (CCA)...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28652923/jc-virus-granule-cell-neuronopathy-onset-two-months-after-chemotherapy-for-low-grade-lymphoma
#20
Kathryn B Holroyd, Elias S Sotirchos, Scott R DeBoer, Kelly A Mills, Scott D Newsome
BACKGROUND: Granule cell neuronopathy (GCN) is a rare disease caused by the JC virus, leading to degeneration of cerebellar granule cell neurons. Primarily described in patients with AIDS, it has also been diagnosed in patients with lymphoproliferative diseases and after long-term treatment with immune-suppressing medications such as natalizumab. CASE PRESENTATION: A 69 year old woman presented with progressive ataxia which began 2 months after initiation of treatment for follicular low-grade B cell lymphoma with rituximab/bendamustine, and progressed for 2 years prior to admission...
2017: Cerebellum & Ataxias
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