1,359 results match your criteria Cerebellum[Journal]


GIRK1-Mediated Inwardly Rectifying Potassium Current Is a Candidate Mechanism Behind Purkinje Cell Excitability, Plasticity, and Neuromodulation.

Cerebellum 2020 Jul 2. Epub 2020 Jul 2.

Department of Pharmacy, School of Medicine, University of Naples Federico II, Naples, Italy.

G-protein-coupled inwardly rectifying potassium (GIRK) channels contribute to the resting membrane potential of many neurons and play an important role in controlling neuronal excitability. Although previous studies have revealed a high expression of GIRK subunits in the cerebellum, their functional role has never been clearly described. Using patch-clamp recordings in mice cerebellar slices, we examined the properties of the GIRK currents in Purkinje cells (PCs) and investigated the effects of a selective agonist of GIRK1-containing channels, ML297 (ML), on PC firing and synaptic plasticity. Read More

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http://dx.doi.org/10.1007/s12311-020-01158-yDOI Listing

Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation.

Cerebellum 2020 Jun 27. Epub 2020 Jun 27.

Research Center of Neurology, Moscow, Russia.

PSEN1 gene is considered to be the most common gene, which is responsible for the development of an autosomal dominant Alzheimer disease with early onset and sometimes broad phenotype. We present a patient with a spinocerebellar ataxia (SCA)-like phenotype who was found to carry an M233V mutation. General and neurological exam was carried out. Read More

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http://dx.doi.org/10.1007/s12311-020-01161-3DOI Listing

Transient Neurological Symptoms Preceding Cerebellar Ataxia with Glutamic Acid Decarboxylase Antibodies.

Cerebellum 2020 Jun 26. Epub 2020 Jun 26.

French Reference Center on Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, Hôpital Neurologique, Bron, France.

A prompt diagnosis and treatment of patients with autoimmune cerebellar ataxia (CA) with antibodies against glutamic acid decarboxylase (GAD-Abs) may lead to a better prognosis. Herein, we report prodromal transient neurological symptoms that should raise clinical suspicion of CA with GAD-Abs. We initially identified a 70-year-old man who presented a first acute episode of vertigo, diplopia, and ataxia lasting 2 weeks. Read More

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http://dx.doi.org/10.1007/s12311-020-01159-xDOI Listing

Feasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias.

Cerebellum 2020 Jun 25. Epub 2020 Jun 25.

Sheffield Teaching Hospitals NHS Trust, University of Sheffield, Sheffield, S10 2TG, UK.

Communication difficulties have considerable impact on people with progressive ataxia, yet there are currently no evidence-based treatments. LSVT LOUD® focuses on the production of healthy vocal loudness whilst also improving breath support, vocal quality, loudness and articulation in participating patients. This study aimed to investigate whether Lee Silverman Voice Treatment (LSVT LOUD®) can improve communication effectiveness in these patients. Read More

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http://dx.doi.org/10.1007/s12311-020-01153-3DOI Listing

Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.

Cerebellum 2020 Jun 22. Epub 2020 Jun 22.

Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.

Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. Read More

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http://dx.doi.org/10.1007/s12311-020-01156-0DOI Listing

Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias.

Cerebellum 2020 Jun 17. Epub 2020 Jun 17.

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

Spinocerebellar ataxias (SCAs) represent a large group of heredodegenerative diseases, with great phenotypic and genotypic heterogeneity. However, in the clinical neurological practice, some symptoms and signs might help differentiate the SCAs. This study's aims were to evaluate the frequency of upward gaze palsy (UGP) and investigate its role in assisting in the clinical differentiation of SCAs. Read More

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http://dx.doi.org/10.1007/s12311-020-01154-2DOI Listing
June 2020
2.864 Impact Factor

Acoustic Speech Analytics Are Predictive of Cerebellar Dysfunction in Multiple Sclerosis.

Cerebellum 2020 Jun 18. Epub 2020 Jun 18.

Department of Neurology, Royal Melbourne Hospital, Parkville, Australia.

Speech production relies on motor control and cognitive processing and is linked to cerebellar function. In diseases where the cerebellum is impaired, such as multiple sclerosis (MS), speech abnormalities are common and can be detected by instrumental assessments. However, the potential of speech assessments to be used to monitor cerebellar impairment in MS remains unexplored. Read More

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http://dx.doi.org/10.1007/s12311-020-01151-5DOI Listing

Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate.

Cerebellum 2020 Jun 10. Epub 2020 Jun 10.

IICD insigneo, University of Sheffield, Sheffield, UK.

Immune-mediated ataxias account for a substantial number of sporadic otherwise idiopathic ataxias. Despite some well-characterised entities such as paraneoplastic cerebellar degeneration where diagnostic markers exist, the majority of immune ataxias remained undiagnosed and untreated. We present here our experience in the treatment of suspected primary autoimmune cerebellar ataxia (PACA) using mycophenolate. Read More

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http://dx.doi.org/10.1007/s12311-020-01152-4DOI Listing

Asymmetry in Gaze-Holding Impairment in Acute Unilateral Ischemic Cerebellar Lesions Critically Depends on the Involvement of the Caudal Vermis and the Dentate Nucleus.

Cerebellum 2020 Jun 9. Epub 2020 Jun 9.

Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

Stabilizing the eyes in space when looking at a target is provided by a brainstem/cerebellar gaze-holding network, including the flocculus/paraflocculus complex (non-human primate studies) and the caudal vermis, biventer, and inferior semilunar lobule (human studies). Previous research suggests that acute lateralized cerebellar lesions preferentially lead to gaze-evoked nystagmus (GEN) on ipsilesional gaze. Here, we further characterize the effect of unilateral cerebellar lesions on gaze-holding and hypothesize that the side-specific magnitude of gaze-holding impairment depends on the lesion location. Read More

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http://dx.doi.org/10.1007/s12311-020-01141-7DOI Listing

Trehalose in Machado-Joseph Disease: Safety, Tolerability, and Efficacy.

Cerebellum 2020 Jun 9. Epub 2020 Jun 9.

Department of Neurology, Meir Medical Center, Kfar Saba, Israel.

Machado-Joseph disease (MJD) is relatively prevalent among the Yemenite Jewish subpopulation living in Israel. Currently, there is no treatment able to modify the disease progression. Trehalose is a disaccharide with protein-stabilizing and autophagy-enhancing properties. Read More

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http://dx.doi.org/10.1007/s12311-020-01150-6DOI Listing

EMG Rectification Is Detrimental for Identifying Abnormalities in Corticomuscular and Intermuscular Coherence in Spinocerebellar Ataxia Type 2.

Cerebellum 2020 Jun 4. Epub 2020 Jun 4.

Department Neurology & Stroke, University Tübingen, Tübingen, Germany.

Corticomuscular and intermuscular coherence (CMC, IMC) reflect connectivity between neuronal activity in the motor cortex measured by electroencephalography (EEG) and muscular activity measured by electromyography (EMG), or between activity in different muscles, respectively. There is an ongoing debate on the appropriateness of EMG rectification prior to coherence estimation. This work examines the effects of EMG rectification in CMC and IMC estimation in 20 spinocerebellar ataxia type 2 (SCA2) patients, 16 prodromal SCA2 gene mutation carriers, and 26 healthy controls during a repetitive upper or lower limb motor task. Read More

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http://dx.doi.org/10.1007/s12311-020-01149-zDOI Listing

Shh-Mediated Increase in β-Catenin Levels Maintains Cerebellar Granule Neuron Progenitors in Proliferation.

Cerebellum 2020 Jun 3. Epub 2020 Jun 3.

Centre for Neuroscience, Indian Institute of Science, Bengaluru, 560012, India.

Cerebellar granule neuron progenitors (CGNPs) give rise to the cerebellar granule neurons in the developing cerebellum. Generation of large number of these neurons is made possible by the high proliferation rate of CGNPs in the external granule layer (EGL) in the dorsal cerebellum. Here, we show that upregulation of β-catenin can maintain murine CGNPs in a state of proliferation. Read More

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http://dx.doi.org/10.1007/s12311-020-01138-2DOI Listing

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.

Cerebellum 2020 May 29. Epub 2020 May 29.

Developmental Neurology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy.

Chromosomal microarray analysis is commonly used as screening test for children with neurodevelopmental issues, also in case of complex neurological phenotypes. Developmental delay/intellectual disability is a common presentation sign in pediatric ataxias, diseases with high clinical and genetic heterogeneity. In order to determine the diagnostic yield of Array-CGH in such conditions, all the tests performed in the last 10-year activity of a single referral center in children who present, besides the neurodevelopmental impairment, cerebellar abnormalities have been systematically gathered. Read More

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http://dx.doi.org/10.1007/s12311-020-01145-3DOI Listing

Cerebellar Atrophy in Multiple System Atrophy (Cerebellar Type) and Its Implication for Network Connectivity.

Cerebellum 2020 May 29. Epub 2020 May 29.

Department of Radiology, Dongfang Hospital, Beijing University of Chinese Medicine, Beijing, 100078, China.

We sought to assess structural and functional patterns of cerebellum in multiple system atrophy (cerebellar type), and investigate the associations of structural and functional cerebellar gray matter abnormalities. We collected magnetic resonance imaging data of 18 patients with multiple system atrophy (cerebellar type) and 18 health control subjects. The gray matter loss across the motor and cognitive cerebellar territories in patients was assessed using voxel-based morphometry. Read More

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http://dx.doi.org/10.1007/s12311-020-01144-4DOI Listing

Cerebellar White Matter Structural Correlates of Locomotor Adaptation. Do They Reflect Neural Adaptation?

Cerebellum 2020 May 28. Epub 2020 May 28.

Department of Health & Exercise Science, Colorado State University, 1582 Campus Delivery, Moby B -201A, Fort Collins, CO, 80523, USA.

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http://dx.doi.org/10.1007/s12311-020-01147-1DOI Listing

Intermittent Cerebellar Theta Burst Stimulation Improves Visuo-motor Learning in Stroke Patients: a Pilot Study.

Cerebellum 2020 May 28. Epub 2020 May 28.

Non Invasive Brain Stimulation Unit/Department of Behavioral and Clinical Neurology, Santa Lucia Foundation IRCCS, Rome, Italy.

The cerebellum plays a critical role in promoting learning of new motor tasks, which is an essential function for motor recovery. Repetitive transcranial magnetic stimulation (rTMS) of the cerebellum can be used to enhance learning. In this study, we investigated the effects of cerebellar intermittent theta burst stimulation (c-iTBS), a high-frequency rTMS protocol, on visuo-motor learning in a sample of hemiparetic patients due to recent stroke in the territory of the contralateral middle cerebral artery. Read More

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http://dx.doi.org/10.1007/s12311-020-01146-2DOI Listing
May 2020
2.864 Impact Factor

Are Vermal Lobules VI-VII Smaller in Autism Spectrum Disorder?

Cerebellum 2020 May 22. Epub 2020 May 22.

School of Psychology, Faculty of Health, Deakin University, Geelong, VIC, Australia.

Cerebellar volume, in particular vermal lobule areas VI-VII, have been extensively researched in individuals with autism spectrum disorder (ASD), although findings are often unclear. The aim of the present study is to consolidate all existing cerebellar and age data of individuals with ASD, and compare this data to typically developing (TD) controls. Raw data, or the means and standard deviations of cerebellar volume and age, were obtained from 17 studies (N: 421 ASD and 370 TD participants; N: 506 ASD and 290 TD participants). Read More

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http://dx.doi.org/10.1007/s12311-020-01143-5DOI Listing

Testosterone Levels Are Decreased and Associated with Disease Duration in Male Spinocerebellar Ataxia Type 2 Patients.

Cerebellum 2020 May 21. Epub 2020 May 21.

Center for the Investigation and Rehabilitation of Hereditary Ataxias (CIRAH), Holguin, Cuba.

Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Despite clinical and experimental evidence indicating the relevance of the gonadotropic axis to the prognosis and therapeutics for several late-onset neurodegenerative disorders, its functioning and association with disease severity have not been previously explored in SCA2. To assess serum levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH), and their clinical relevance in SCA2 patients. Read More

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http://dx.doi.org/10.1007/s12311-020-01134-6DOI Listing

The Use of Video-Head Impulse Test in Different Head Positions in Vertical Nystagmus and Ataxia Associated with Probable Thiamine Deficiency.

Cerebellum 2020 May 14. Epub 2020 May 14.

Neurology Department, Coimbra University Hospital Centre, Praceta Mota Pinto, 3000-135, Coimbra, Portugal.

Upward and downward bias of eye movement signals in the semicircular canals (SCC)- and/or otolith-related central pathways have been proposed to explain the occurrence of vertical nystagmus (downbeat nystagmus [DBN] and upbeat nystagmus [UBN]) and its frequent modulation with head position. Video-head impulse test (VHIT), usually performed in upright position, is a recent development for measuring SCC function. We performed longitudinal nystagmus and VHIT assessments in different head positions in a patient with probable thiamine deficiency, in order to explore a possible relationship between the positional behavior of vertical nystagmus and SCC function. Read More

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http://dx.doi.org/10.1007/s12311-020-01140-8DOI Listing

Pontocerebellar Hypoplasia: a Pattern Recognition Approach.

Cerebellum 2020 May 14. Epub 2020 May 14.

Department of Pediatric Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

Pontocerebellar hypoplasias (PCH) represent a heterogeneous group of very rare disorders with reduced volume of pons and cerebellum. The term is purely descriptive and does not imply a genetic progressive disease. Currently (as of Jan 01, 2020), 13 different types are listed in OMIM (Online Mendelian Inheritance in Man), associated with 19 different genes. Read More

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http://dx.doi.org/10.1007/s12311-020-01135-5DOI Listing

Impairment of Global Lower Limb Muscle Coactivation During Walking in Cerebellar Ataxias.

Cerebellum 2020 May 14. Epub 2020 May 14.

Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina, Italy.

The aim of this study was to investigate the time-varying multi-muscle coactivation function (TMCf) in the lower limbs during gait and its relationship with the biomechanical and clinical features of patients with cerebellar ataxia. A total of 23 patients with degenerative cerebellar ataxia (16 with spinocerebellar ataxia, 7 with adult-onset ataxia of unknown etiology) and 23 age-, sex-, and speed-matched controls were investigated. The disease severity was assessed using the Scale for the Assessment and Rating of Ataxia (SARA) in all patients. Read More

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http://dx.doi.org/10.1007/s12311-020-01142-6DOI Listing

Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications.

Cerebellum 2020 May 13. Epub 2020 May 13.

Ataxia Center, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

The current worldwide severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic that causes coronavirus disease 2019 (COVID-19) has brought some medical systems to the brink of collapse. This crisis is also negatively impacting the care of patients with non-COVID-19 conditions, including those with cerebellar ataxia (CA). Older patients with CA and those with immune-mediated ataxias on immunosuppressive medication are potentially at high risk of developing serious complications of the infection, although it is also possible that immunosuppressive agents may provide a defense against cytokine storm. Read More

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http://dx.doi.org/10.1007/s12311-020-01139-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220536PMC

Cerebellum: What is in a Name? Historical Origins and First Use of This Anatomical Term.

Cerebellum 2020 May 13. Epub 2020 May 13.

Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.

In this paper, we study who first used the Latin anatomical term "cerebellum" for the posterior part of the brain. The suggestion that this term was introduced by Leonardo da Vinci is unlikely. Just before the start of the da Vinci era in the fifteenth century, several authors referred to the cerebellum as "cerebri posteriorus. Read More

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http://dx.doi.org/10.1007/s12311-020-01133-7DOI Listing

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

Cerebellum 2020 May 4. Epub 2020 May 4.

Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan.

Mutations in STUB1 have been identified to cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16), also named as Gordon Holmes syndrome, which is characterized by cerebellar ataxia, cognitive decline, and hypogonadism. Additionally, several heterozygous mutations in STUB1 have recently been described as a cause of autosomal dominant spinocerebellar ataxia type 48. STUB1 encodes C-terminus of HSC70-interacting protein (CHIP), which functions as an E3 ubiquitin ligase and co-chaperone and has been implicated in several neurodegenerative diseases. Read More

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http://dx.doi.org/10.1007/s12311-020-01136-4DOI Listing

Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients.

Cerebellum 2020 May 4. Epub 2020 May 4.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil.

Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis. Read More

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http://dx.doi.org/10.1007/s12311-020-01137-3DOI Listing

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14.

Cerebellum 2020 Apr 27. Epub 2020 Apr 27.

Experimental and Clinical Research Center, Max Delbrück Center for Molecular Medicine and Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cγ (PKCγ). The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate for the first time visual function and retinal morphology in patients with SCA-PRKCG. Read More

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http://dx.doi.org/10.1007/s12311-020-01130-wDOI Listing

Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia-Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias.

Cerebellum 2020 Apr 23. Epub 2020 Apr 23.

Tokyo Medical University, Tokyo, Japan.

Aside from well-characterized immune-mediated ataxias with a clear trigger and/or association with specific neuronal antibodies, a large number of idiopathic ataxias are suspected to be immune mediated but remain undiagnosed due to lack of diagnostic biomarkers. Primary autoimmune cerebellar ataxia (PACA) is the term used to describe this later group. An International Task Force comprising experts in the field of immune ataxias was commissioned by the Society for Research on the Cerebellum and Ataxias (SRCA) in order to devise diagnostic criteria aiming to improve the diagnosis of PACA. Read More

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http://dx.doi.org/10.1007/s12311-020-01132-8DOI Listing

Cerebellar Scholars' Challenging Time in COVID-19 Pandemia.

Cerebellum 2020 Jun;19(3):343-344

Unité des Ataxies Cérébelleuses, Service de Neurologie, CHU-Charleroi, 6000, Charleroi, Belgium.

Novel coronavirus, SARS-CoV2, has caused pandemic of highly contagious disease called coronavirus disease 2019 (COVID-19), with epicenters in China, Italy, Spain, and the USA. Primarily affecting the human respiratory system, SARS-CoV2 has some impact on the human brain, but apparently minimal on the cerebellum, at least so far. Neurological involvement in the acute phase appears to manifest with confusion, dizziness, impaired consciousness, propensity to develop acute strokes, anosmia, hypogeusia, ataxia, epilepsy, and neuralgia. Read More

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http://dx.doi.org/10.1007/s12311-020-01131-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7161715PMC

Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population.

Cerebellum 2020 Apr 13. Epub 2020 Apr 13.

Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Jr. Ancash 1271 Barrios Altos, Lima, Peru.

Spinocerebellar ataxia subtypes 1, 3, and 6 (SCA1, MJD/SCA3, and SCA6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in Peru are low. Frequency of large normal (LN) alleles at spinocerebellar ataxia-causative genes has been proposed to be associated with disease prevalence. To investigate the allelic distribution of the CAG repeat in ATXN1, ATXN3, and CACNA1A genes in a Peruvian mestizo population and examine their association with the relative frequency of SCA1, MJD/SCA3, and SCA6 across populations. Read More

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http://dx.doi.org/10.1007/s12311-020-01129-3DOI Listing

Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36).

Cerebellum 2020 Apr 8. Epub 2020 Apr 8.

Neurogenetics Research Group, Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.

SCA36 is an autosomal dominant spinocerebellar ataxia (SCA) affecting many families from Costa da Morte, a northwestern region of Spain. It is caused by an intronic GGCCTG repeat expansion in NOP56. In order to characterize the cognitive and affective manifestations of this cerebellar disease, a group of 30 SCA36 mutation carriers (11 preataxic and 19 ataxic patients) were assessed with a comprehensive battery of standardized tests. Read More

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http://dx.doi.org/10.1007/s12311-020-01110-0DOI Listing

Neuroimaging Spectrum at Pre-, Early, and Late Symptomatic Stages of SCA17 Mice.

Cerebellum 2020 Apr 8. Epub 2020 Apr 8.

Department of Life Science, National Taiwan Normal University, Taipei, Taiwan.

Spinocerebellar ataxia (SCA) is a hereditary neurodegenerative disease. We have generated SCA17 transgenic mice bearing human TBP with 109 CAG repeats under the Purkinje cell-specific L7/pcp2 promoter. These mice recapitulate the patients' phenotypes and are suitable for the study of the SCA17 pathomechanism. Read More

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http://dx.doi.org/10.1007/s12311-020-01127-5DOI Listing

Nitric Oxide Critically Regulates Purkinje Neuron Dendritic Development Through a Metabotropic Glutamate Receptor Type 1-Mediated Mechanism.

Cerebellum 2020 Apr 8. Epub 2020 Apr 8.

Graduate Program of Neuroscience, The University of Western Ontario, London, N6A 5B7, Canada.

Nitric oxide (NO), specifically derived from neuronal nitric oxide synthase (nNOS), is a well-established regulator of synaptic transmission in Purkinje neurons (PNs), governing fundamental processes such as motor learning and coordination. Previous phenotypic analyses showed similar cerebellar structures between neuronal nitric oxide null (nNOS) and wild-type (WT) adult male mice, despite prominent ataxic behavior within nNOS mice. However, a study has yet to characterize PN molecular structure and their excitatory inputs during development in nNOS mice. Read More

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http://dx.doi.org/10.1007/s12311-020-01125-7DOI Listing

Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research.

Cerebellum 2020 Jun;19(3):345-347

Department of Neurology, CHU-Charleroi, Charleroi, Belgium.

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http://dx.doi.org/10.1007/s12311-020-01128-4DOI Listing

Urinary Symptoms and Urodynamic Findings in Patients with Spinocerebellar Ataxia.

Cerebellum 2020 Mar 19. Epub 2020 Mar 19.

Department of Neurology, Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.

Urinary dysfunctions are not considered symptoms of spinocerebellar ataxias (SCAs). However, given that a patient with SCAs without a family history might be misdiagnosed as MSA-C when having urinary dysfunctions, characterization of urinary dysfunctions in SCAs is needed not only to understand SCAs but also to correctly diagnosis patients with ataxia. We retrospectively reviewed medical records of 143 patients with genetically confirmed SCA1, 2, 3, 6, 7, 17, and DRPLA. Read More

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http://dx.doi.org/10.1007/s12311-020-01126-6DOI Listing

An Algorithm for the Diagnosis of Vestibular, Cerebellar, and Oculomotor Disorders Using a Systematized Clinical Bedside Examination.

Cerebellum 2020 Mar 16. Epub 2020 Mar 16.

Laboratory of Vestibular Neuroadaptation, Department of Otolaryngology Head and Neck Surgery and Department of Physical Medicine and Rehabilitation, The Johns Hopkins University School of Medicine, Broadway, MD, USA.

The bedside examination associated with their clinical history remains the most critical means to accurately diagnose the cause for most of the signs and symptoms related to pathology of the cerebellum and vestibular system in patients presenting with dizziness and imbalance. This paper focuses on those critical bedside examinations, suggests when laboratory testing might be useful to confirm the clinical suspicion, and considers the shared neural circuitry within the visual and vestibular systems to offer an algorithmic approach in conducting the clinical bedside examination. Read More

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http://dx.doi.org/10.1007/s12311-020-01124-8DOI Listing

Dysphagia Affecting Quality of Life in Cerebellar Ataxia-a Large Survey.

Cerebellum 2020 Jun;19(3):437-445

Department of Neurology, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.

Dysphagia is a common symptom in neurodegenerative disorders and is generally associated with increased mortality. In the clinical care setting of ataxia patients, no systematical and standardized assessment of dysphagia is employed. Its impact on patients' health-related quality of life is not well understood. Read More

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http://dx.doi.org/10.1007/s12311-020-01122-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198478PMC

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.

Cerebellum 2020 Jun;19(3):348-357

Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig Maximilians University, Munich Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany.

Downbeat nystagmus (DBN) is a frequent form of acquired persisting central fixation nystagmus, often associated with other cerebellar ocular signs, such as saccadic smooth pursuit or gaze-holding deficits. Despite its distinct clinical features, the underlying etiology of DBN often remains unclear. Therefore, a genome-wide association study (GWAS) was conducted in 106 patients and 2609 healthy controls of European ancestry to identify genetic variants associated with DBN. Read More

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http://dx.doi.org/10.1007/s12311-020-01113-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198638PMC

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Cerebellum 2020 Jun;19(3):465-468

Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, Zip Code 90.035-903, Brazil.

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http://dx.doi.org/10.1007/s12311-020-01123-9DOI Listing

Out with the Old and in with the New: the Contribution of Prefrontal and Cerebellar Areas to Backward Inhibition.

Cerebellum 2020 Jun;19(3):426-436

Department of Psychology, University "Sapienza" of Rome, Via dei Marsi, 78, 0018, Rome, Italy.

The inhibitory mechanism named backward inhibition (BI) counteracts interference of previous tasks supporting task switching. For instance, if task set A is inhibited when switching to task B, then it should take longer to immediately return to task set A (as occurring in an ABA sequence), as compared to a task set that has not been just inhibited (as occurring in a CBA sequence), because extra time will be needed to overcome the inhibition of task set A.The evidenced prefrontal and cerebellar role in inhibitory control suggests their involvement even in BI. Read More

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http://dx.doi.org/10.1007/s12311-020-01115-9DOI Listing

The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6.

Cerebellum 2020 Jun;19(3):459-464

Lake Erie College of Osteopathic Medicine, Erie, NY, USA.

Spinocerebellar ataxias (SCA) constitute of a group of degenerative and progressive disorders that can be identified on a molecular and cellular basis. Along with histological changes, the clinical presentation of SCA differs between subtypes. In addition to basic cerebellar dysfunction symptoms, patients with SCA develop gait ataxia, dysphagia, dysarthria, oculomotor disturbances, pyramidal and extrapyramidal disease signs, rigidity, bradycardia, sensory deficits, and mild cognitive and executive function decline. Read More

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http://dx.doi.org/10.1007/s12311-020-01120-yDOI Listing

Impairments in Emotion Recognition and Risk-Taking Behavior After Isolated, Cerebellar Stroke.

Cerebellum 2020 Jun;19(3):419-425

Department of Brain and Cognition, University of Amsterdam, Nieuwe Achtergracht 129B, P.O. Box 15.915, 1001 NK, Amsterdam, The Netherlands.

An increasing amount of research has shown a cerebellar involvement in higher order cognitive functions, including emotional processing and decision-making. However, it has not been investigated whether impairments in facial emotion recognition, which could be a marker of impaired emotional experiences, are related to risky decision-making in these patients. Therefore, we aimed to investigate facial emotion recognition and risky decision-making in these patients as well as to investigate a relationship between these constructs. Read More

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http://dx.doi.org/10.1007/s12311-020-01121-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198481PMC

Pallidal Activity in Cervical Dystonia with and Without Head Tremor.

Cerebellum 2020 Jun;19(3):409-418

Departments of Neurology and Biomedical Engineering, Case Western Reserve University, Cleveland, OH, USA.

The relationship between two common movement disorders, dystonia and tremor, is controversial. Both deficits have correlates in the network that includes connections between the cerebellum and the basal ganglia. In order to assess the physiological relationship between tremor and dystonia, we measured the activity of 727 pallidal single-neurons during deep brain stimulation surgery in patients with cervical dystonia without head oscillations, cervical dystonia plus jerky oscillations, and cervical dystonia with sinusoidal oscillations. Read More

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http://dx.doi.org/10.1007/s12311-020-01119-5DOI Listing

Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.

Cerebellum 2020 Jun;19(3):446-458

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, 91540-070, Brazil.

Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes varies broadly among different geographical and ethnic groups as result of genetic drifts. This review aims to provide an update regarding SCA founders in the American continents and the Caribbean as well as to discuss characteristics of these populations. Read More

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http://dx.doi.org/10.1007/s12311-020-01109-7DOI Listing
June 2020
2.864 Impact Factor

New Cerebello-Cortical Pathway Involved in Higher-Order Oculomotor Control.

Cerebellum 2020 Jun;19(3):401-408

Department of Neurophysiology, School of Medicine, Juntendo University, Tokyo, 113-8421, Japan.

The cerebellum and the basal ganglia play an important role in the control of voluntary eye movement associated with complex behavior, but little is known about how cerebellar projections project to cortical eye movement areas. Here we used retrograde transneuronal transport of rabies virus to identify neurons in the cerebellar nuclei that project via the thalamus to supplementary eye field (SEF) of the frontal cortex of macaques. After rabies injections into the SEF, many neurons in the restricted region, the ventral aspects of the dentate nucleus (DN), the caudal pole of the DN, and the posterior interpositus nucleus (PIN) were labeled disynaptically via the thalamus, whereas no neuron labeling was found in the anterior interpositus nucleus (AIN). Read More

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http://dx.doi.org/10.1007/s12311-020-01108-8DOI Listing

Cerebellar Rebound Nystagmus Explained as Gaze-Evoked Nystagmus Relative to an Eccentric Set Point: Implications for the Clinical Examination.

Cerebellum 2020 Feb 19. Epub 2020 Feb 19.

Department of Neurology, University Hospital Zurich, Frauenklinikstrasse 26, CH-8091, Zurich, Switzerland.

A brain stem/cerebellar neural integrator enables stable eccentric gaze. Cerebellar loss-of-function can cause an inability to maintain gaze eccentrically (gaze-evoked nystagmus). Moreover, after returning gaze to straight ahead, the eyes may drift toward the prior eye position (rebound nystagmus). Read More

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http://dx.doi.org/10.1007/s12311-020-01118-6DOI Listing
February 2020

Social Cognition in Chiari Malformation Type I: a Preliminary Characterization.

Cerebellum 2020 Jun;19(3):392-400

Neurology Service, University Hospital Marqués de Valdecilla, IDIVAL, University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas-CIBERNED, Santander, Spain.

Chiari malformation type I (CM-I) is a neurological disorder in which cerebellar tonsils are herniated through the foramen magnum into the spinal canal. A wide spectrum of cognitive deficits underlying this pathology has been reported, but the literature about social cognition is insufficient. Clinical research has pointed out the cerebellar role in Theory of Mind (ToM), indicating that there are several disorders with cerebellar pathology that reveal a poorer performance in social cognition tasks. Read More

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http://dx.doi.org/10.1007/s12311-020-01117-7DOI Listing

Polarity- and Intensity-Independent Modulation of Timing During Delay Eyeblink Conditioning Using Cerebellar Transcranial Direct Current Stimulation.

Cerebellum 2020 Jun;19(3):383-391

Department of Psychological & Brain Sciences, Indiana University Bloomington, 1101 E. 10th St., Bloomington, IN, 47405, USA.

Delay eyeblink conditioning (dEBC) is widely used to assess cerebellar-dependent associative motor learning, including precise timing processes. Transcranial direct current stimulation (tDCS), noninvasive brain stimulation used to indirectly excite and inhibit select brain regions, may be a promising tool for understanding how functional integrity of the cerebellum influences dEBC behavior. The aim of this study was to assess whether tDCS-induced inhibition (cathodal) and excitation (anodal) of the cerebellum differentially impact timing of dEBC. Read More

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http://dx.doi.org/10.1007/s12311-020-01114-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202963PMC

Locomotor Adaptation Is Associated with Microstructural Properties of the Inferior Cerebellar Peduncle.

Cerebellum 2020 Jun;19(3):370-382

Zlotowski Center for Neuroscience, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

In sensorimotor adaptation paradigms, participants learn to adjust their behavior in response to an external perturbation. Locomotor adaptation and reaching adaptation depend on the cerebellum and are accompanied by changes in functional connectivity in cortico-cerebellar circuits. In order to gain a better understanding of the particular cerebellar projections involved in locomotor adaptation, we assessed the contribution of specific white matter pathways to the magnitude of locomotor adaptation and to long-term motor adaptation effects (recall and relearning). Read More

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http://dx.doi.org/10.1007/s12311-020-01116-8DOI Listing

Developmental Maturation of the Cerebellar White Matter-an Instructive Environment for Cerebellar Inhibitory Interneurons.

Cerebellum 2020 Apr;19(2):286-308

Anatomisches Institut, Anatomie & Zellbiologie, Rheinische Friedrich-Wilhelms-Universität, Nussallee 10, D-53115, Bonn, Germany.

In the developing cerebellum, the nascent white matter (WM) serves as an instructive niche for cerebellar cortical inhibitory interneurons. As their Pax2 expressing precursors transit the emerging WM, their laminar fate is programmed. The source(s) and nature of the signals involved remain unknown. Read More

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http://dx.doi.org/10.1007/s12311-020-01111-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082410PMC

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.

Cerebellum 2020 Jun;19(3):358-369

Univ. Lille, Inserm, CHU Lille, UMR-S 1172, JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000, Lille, France.

A variety of missense mutations and a stop mutation in the gene coding for transmembrane protein 240 (TMEM240) have been reported to be the causative mutations of spinocerebellar ataxia 21 (SCA21). We aimed to investigate the expression of TMEM240 protein in mouse brain at the tissue, cellular, and subcellular levels. Immunofluorescence labeling showed TMEM240 to be expressed in various areas of the brain, with the highest levels in the hippocampus, isocortex, and cerebellum. Read More

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http://dx.doi.org/10.1007/s12311-020-01112-yDOI Listing