Visual Perception of Heading in the Syndrome of Oculopalatal Tremor
AbstractPerception of our linear motion, heading, relies on convergence from multiple sensory systems utilizing visual and vestibular signals. Multisensory convergence takes place in the visuo-vestibular areas of the cerebral cortex and posterior cerebellar vermis. Latter closely connected with the inferior olive may malfunction in disorders of olivo-cerebellar hypersynchrony, such as the syndrome of oculopalatal tremor (OPT). We had recently shown an impairment in vestibular heading perception in the subjects with OPT. Here we asked whether the hypersynchrony in the inferior-olive cerebellar circuit also affects the visua...
Source: The Cerebellum - August 1, 2020 Category: Neurology Source Type: research

Hyperventilation Increases the Randomness of Ocular Palatal Tremor Waveforms
AbstractHyperventilation changes the extracellular pH modulating many central pathologies, such as tremor. The questions that remain unanswered are the following: (1) Hyperventilation modulates which aspects of the oscillations? (2) Whether the effects of hyperventilation are instantaneous and the recovery is rapid and complete? Here we study the effects of hyperventilation on eye oscillations in the syndrome of oculopalatal tremor (OPT), a disease model affecting the inferior olive and cerebellar system. These regions are commonly involved in the pathogenesis of many movement disorders. The focus on the ocular motor syste...
Source: The Cerebellum - July 31, 2020 Category: Neurology Source Type: research

Crossed Cerebellar Diaschisis in Patients with Diffuse Glioma Is Associated with Impaired Supratentorial Cerebrovascular Reactivity and Worse Clinical Outcome
AbstractCrossed cerebellar diaschisis (CCD) can be associated with impaired cerebrovascular reactivity (CVR) and poor clinical outcome, but whether this holds true for patients with diffuse glioma is unknown. With blood oxygenation level –dependent (BOLD)-CVR imaging, we determined the presence of CCD in patients with diffuse glioma and investigated its relationship with cerebrovascular reactivity and clinical outcome. For eighteen enrolled subjects (nineteen datasets) with diffuse glioma, CCD was deferred from BOLD-CVR using a pr edetermined cerebellar asymmetry index (CAI) cutoff value of 6.0%. A FET-PET study was ...
Source: The Cerebellum - July 31, 2020 Category: Neurology Source Type: research

A First Case of Acute Cerebellitis Associated with Coronavirus Disease (COVID-19): a Case Report and Literature Review
We report a 47-year-old male who was admitted to our hospital due to suffering from progressive vertigo and ataxia for 7  days prior to the admission. Neurological examination revealed cerebellar dysfunction, and brain magnetic resonance imaging (MRI) depicted edema of the cerebellar hemisphere associated with leptomeningeal enhancement. Cerebrospinal fluid (CSF) analysis showed mild lymphocytic pleocytosis, elevated protein, and lactate dehydrogenase. SARS-CoV-2 RNA was detected in the oropharyngeal/nasopharyngeal and CSF specimens. As a result, treatment with lopinavir/ritonavir was initiated, and patient symptoms a...
Source: The Cerebellum - July 31, 2020 Category: Neurology Source Type: research

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review
AbstractCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ataxia and compare these to the first pathologically confirmed case of CADASIL presenting with progressive ataxia. A 50-year-old woman presented with progressive truncal ataxia. Brain magnetic resonance imaging (MRI) revealed white matter hyperintensities in the bilateral anterior temporal lobes, external capsules, and peri...
Source: The Cerebellum - July 30, 2020 Category: Neurology Source Type: research

Cathodal Cerebellar tDCS Combined with Visual Feedback Improves Balance Control
AbstractBalance control is essential to maintain a stable body position and to prevent falls. The aim of this study was to determine whether balance control could be improved by using cerebellar transcranial direct current stimulation (tDCS) and visual feedback in a combined approach. A total of 90 healthy volunteers were randomly assigned to six groups defined by the delivery of tDCS (cathodal or anodal or sham) and the provision or not of visual feedback on balance during the acquisition phase. tDCS was delivered over the cerebellar hemisphere ipsilateral to the dominant leg for 20  min at 2 mA during a unipeda...
Source: The Cerebellum - July 30, 2020 Category: Neurology Source Type: research

Cerebellar Damage Affects Contextual Priors for Action Prediction in Patients with Childhood Brain Tumor
AbstractPredictive coding accounts of action perception sustain that kinematics information is compared with contextual top-down predictions (i.e., priors) to understand actions in conditions of perceptual ambiguity. It has been previously shown that the cerebellum contributes to motor simulation of observed actions. Here, we tested the hypothesis that a specific contribution of the cerebellum to action perception is to provide contextual priors that guide the sampling of perceptual kinematic information. To this aim, we compared the performance of 42 patients with childhood brain tumor affecting infratentorial (ITT) or su...
Source: The Cerebellum - July 22, 2020 Category: Neurology Source Type: research

Cerebellar Intermittent Theta-Burst Stimulation Combined with Vestibular Rehabilitation Improves Gait and Balance in Patients with Multiple Sclerosis: a Preliminary Double-Blind Randomized Controlled Trial
In this study, we investigated the effects of cerebellar intermittent theta burst stimulation (c-iTBS), a high-frequency rTMS protocol able to increase cerebellar activity, on gait and balance in a sample of 20 hospitalized participants with MS, undergoing vestibular rehabilitation (VR), an exercise-based program primarily designed to reduce vertigo and dizziness, gaze instability, and/or imbalance and falls in MS. Patients were assigned to receive either c-iTBS or sham iTBS before being treated with VR during 2  weeks. VR consisted of two types of training: gaze stability and postural stability exercises. The primary...
Source: The Cerebellum - July 17, 2020 Category: Neurology Source Type: research

Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3
AbstractSpinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) inATXN3. Factors associated with intergenerational instability (delta-expCAG) and genetic anticipation in SCA3 have never been reported in Chinese mainland. Here, we demonstrated that unstable transmissions occurred more often in sons than in daughters (91% vs 72%, Fisher ’s exact test,p = 0.012). The extended delta-expCAG of father-son transmissions was greater than that of mother-son transmissions (3.8 ± 2.3 repeats vs 1.6 ± 1.0 repeats, Mann-WhitneyU,p =&t...
Source: The Cerebellum - July 17, 2020 Category: Neurology Source Type: research

Effects of Cerebellar tDCS on Inhibitory Control: Evidence from a Go/NoGo Task
AbstractResponse inhibition as an executive function refers to the ability to suppress inappropriate but prepotent responses. Several brain regions have been implicated in the process underlying inhibitory control, including the cerebellum. The aim of the present study was to explore the role of the cerebellum in executive functioning, particularly in response inhibition. For this purpose, we transitorily inhibited cerebellar activity by means of cathodal tDCS and studied the effects of this inhibition on ERP components elicited during a Go/NoGo task in healthy subjects. Sixteen healthy subjects underwent a Go/NoGo task pr...
Source: The Cerebellum - July 14, 2020 Category: Neurology Source Type: research

Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration
AbstractEssential tremor (ET) has recently been reconceptualized by many as a degenerative disease of the cerebellum. Until now, though, there has been no attempt to frame it within the context of these diseases. Here, we compare the clinical and postmortem features of ET with other cerebellar degenerations, thereby placing it within the broader context of these diseases. Action tremor is the hallmark feature of ET. Although often underreported in the spinocerebellar ataxias (SCAs), action tremors occur, and it is noteworthy that in SCA12 and 15, they are highly prevalent, often severe, and can be the earliest disease mani...
Source: The Cerebellum - July 14, 2020 Category: Neurology Source Type: research

Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
The objective of this study was to investigate lobule-specific cerebellar structural alterations relevant to clinical behavioral characteristics of Prader-Willi syndrome (PWS). We performed a case-control study of 21 Japanese individuals with PWS (age; median 21.0, range 13 –50 years, 14 males, 7 females) and 40 age- and sex-matched healthy controls with typical development. Participants underwent 3-Tesla magnetic resonance imaging. Three-dimensional T1-weighted images were assessed for cerebellar lobular volume and adjusted for total intracerebellar volume (TIV) using a spatially unbiased atlas template to give...
Source: The Cerebellum - July 13, 2020 Category: Neurology Source Type: research

Is Purkinje Neuron Hyperpolarisation Important for Cerebellar Synaptic Plasticity? A Retrospective and Prospective Analysis
AbstractTwo recent studies have demonstrated that the dendritic Ca2+ signal associated with a climbing fibre (CF) input to the cerebellar Purkinje neuron (PN) depends on the membrane potential (Vm). Specifically, when the cell is hyperpolarised, this signal is mediated by T-type voltage-gated Ca2+ channels; in contrast, when the cell is firing, the CF-PN signal is mediated by P/Q-type voltage-gated Ca2+ channels. When the CF input is paired with parallel fibre (PF) activity, the signal is locally amplified at the sites of PF-activated synapses according to theVm at the time of the CF input, suggesting that the standingVm i...
Source: The Cerebellum - July 11, 2020 Category: Neurology Source Type: research

Associations of Reading Efficiency with White Matter Properties of the Cerebellar Peduncles in Children
In this study, we used two independent neuroimaging modalities to assess which features of the cerebellar peduncles would be associated with reading. Twenty-three 8-year-old children were evaluated on word reading efficiency and imaged using diffusion MRI (dMRI) and quantitative T1 relaxometry (qT1). We segmented the superior (SCP), middle, and inferior cerebellar peduncles and extracted two metrics: fractional anisotropy (FA) from dMRI and R1 from qT1. Tract-FA was significantly correlated with tract-R1 in left and right SCPs (left:rP(21)  = .63, right:rP(21)  = .76,p ≤ .001) s...
Source: The Cerebellum - July 8, 2020 Category: Neurology Source Type: research

Abnormal Cerebellar Volume in Patients with Remitted Major Depression with Persistent Cognitive Deficits
This study supports cerebellar contributions to the cognitive dimension of MDD. The data also point towards cerebellar area VII as a potential target for non-invasive brain stimulation to treat cognitive deficits related to MDD. (Source: The Cerebellum)
Source: The Cerebellum - July 8, 2020 Category: Neurology Source Type: research

Consensus Paper: Cerebellum and Social Cognition
We report on the most recent empirical findings and techniques for understanding and manipulating cerebellar circuits in humans. Cerebellar circuitry appears now as a key structure to elucidate social interactions. (Source: The Cerebellum)
Source: The Cerebellum - July 7, 2020 Category: Neurology Source Type: research

GIRK1-Mediated Inwardly Rectifying Potassium Current Is a Candidate Mechanism Behind Purkinje Cell Excitability, Plasticity, and Neuromodulation
AbstractG-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. We demonstrated that G...
Source: The Cerebellum - July 2, 2020 Category: Neurology Source Type: research

Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation
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. Brain MRI as well as genetic testing for SCAs 1, 2, 3, 6, and 17 were performed. The patient was then referred for a next-generation sequencing-based gene panel test with 723 genes included. A 26-year-old man of an Azerbaijani origin presented with a progressive impairment of coordination followed by memory impairment. Family history was positive for a similar disorder suggesting autosomal dominant inheritance. Brain MRI showed bilateral hippocampal atrophy (more p...
Source: The Cerebellum - June 27, 2020 Category: Neurology Source Type: research

Transient Neurological Symptoms Preceding Cerebellar Ataxia with Glutamic Acid Decarboxylase Antibodies
AbstractA 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. Two months later, he experienced a similar episode along with new-onset gaze-evoked nystagmus. After 4 months, downbeat nystagmus, left limb dysmetria, and gait ataxia progressively appear...
Source: The Cerebellum - June 26, 2020 Category: Neurology Source Type: research

Feasibility and Acceptability of Lee Silverman Voice Treatment in Progressive Ataxias
This study aimed to investigate whether Lee Silverman Voice Treatment (LSVT LOUD®) can improve communication effectiveness in these patien ts. We performed a rater-blinded, single-arm study investigating LSVT LOUD® treatment in a population of patients with progressive ataxia including Friedreich’s ataxia (n = 18), spinocerebellar ataxia type 6 (n = 1), idiopathic cerebellar ataxia (n = 1), and spastic paraplegia 7 (n = 1). Twenty-one patients were recruited to the study, with 19 completing treatment. Sessions were administered via Skype in the LSVT-X form...
Source: The Cerebellum - June 25, 2020 Category: Neurology Source Type: research

Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease
We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hype rsalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials. (Source: The Cerebellum)
Source: The Cerebellum - June 22, 2020 Category: Neurology Source Type: research

Acoustic Speech Analytics Are Predictive of Cerebellar Dysfunction in Multiple Sclerosis
AbstractSpeech 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. The aim of this study is to build an objectively measured speech score that reflects cerebellar function, pathology and quality of life in MS. Eighty-five people with MS and 21 controls participated in the study. Speech was independently asse...
Source: The Cerebellum - June 18, 2020 Category: Neurology Source Type: research

Upward Gaze Palsy: a Valuable Sign to Distinguish Spinocerebellar Ataxias
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. We included 419 patients with SCAs (248 with SCA3, 95 with SCA10, 38 with SCA2, 22 with SCA1, 12 with SCA7, and 4 with SCA6). This study compared UGP wit h other known markers of disease severity—age of onset, disease duration, SARA score, and size of CAG expansion, and also other semiologic features, as bulging eyes. This sign was significantly more prevalent in SCA3 (64.11%), compared with SCA10 (3.16%;p 
Source: The Cerebellum - June 17, 2020 Category: Neurology Source Type: research

Treatment of Primary Autoimmune Cerebellar Ataxia with Mycophenolate
We present here our experience in the treatment of suspected primary autoimmune cerebellar ataxia (PACA) using mycophenolate. All patients reported attend the Sheffield Ataxia Centre on a regular basis and had undergone extensive investigations, including genetic testing using next-generation sequencing, with other causes of ataxia excluded. The diagnosis of PACA was strongly suspected based on investigations, pattern of disease progression, and cerebellar involvement. Patients were treated with mycophenolate and monitored using MR spectroscopy of the cerebellar vermis. Thirty patients with PACA are reported here. Of these...
Source: The Cerebellum - June 10, 2020 Category: Neurology Source Type: research

Asymmetry in Gaze-Holding Impairment in Acute Unilateral Ischemic Cerebellar Lesions Critically Depends on the Involvement of the Caudal Vermis and the Dentate Nucleus
AbstractStabilizing 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. Nine patients...
Source: The Cerebellum - June 9, 2020 Category: Neurology Source Type: research

Trehalose in Machado-Joseph Disease: Safety, Tolerability, and Efficacy
This study was designed to be a proof-of-concept, phase 2 study lasting 6 to 12 months, to determine the safety, tolerability, and efficacy of weekly IV administration of 15 g or 30 g 10% trehalose solution in 14 MJD patients. Primary endpoints were safety and tolerability, which were assessed by various clinical and laboratory tests. Secondary endpoints were changes in the Scale for Assessment and Rating of Ataxia (SARA) score, Neurological Examination Score for Spinocerebellar Ataxia (NESSCA), time to do 9-hole peg test (9HPT), time to do 8-meter walk (8MW), and quality of life assessed by the World Health Organization Q...
Source: The Cerebellum - June 9, 2020 Category: Neurology Source Type: research

EMG Rectification Is Detrimental for Identifying Abnormalities in Corticomuscular and Intermuscular Coherence in Spinocerebellar Ataxia Type 2
AbstractCorticomuscular 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 ...
Source: The Cerebellum - June 4, 2020 Category: Neurology Source Type: research

Shh-Mediated Increase in β-Catenin Levels Maintains Cerebellar Granule Neuron Progenitors in Proliferation
AbstractCerebellar 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. Further, we show that β-catenin mRNA and protein levels can be regulated by the mitogen Sonic hedgehog (Shh). Shh signaling led to an increase in the level of the transcription factor N-myc. N-myc was found to bind the &beta...
Source: The Cerebellum - June 3, 2020 Category: Neurology Source Type: research

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present
AbstractChromosomal 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. The study demonstrates th...
Source: The Cerebellum - May 29, 2020 Category: Neurology Source Type: research

Cerebellar Atrophy in Multiple System Atrophy (Cerebellar Type) and Its Implication for Network Connectivity
AbstractWe 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. And change in the connectivity between the cerebellum and large-scale cortical networks was assessed using resting-state functional MRI a...
Source: The Cerebellum - May 29, 2020 Category: Neurology Source Type: research

Cerebellar White Matter Structural Correlates of Locomotor Adaptation. Do They Reflect Neural Adaptation?
(Source: The Cerebellum)
Source: The Cerebellum - May 28, 2020 Category: Neurology Source Type: research

Intermittent Cerebellar Theta Burst Stimulation Improves Visuo-motor Learning in Stroke Patients: a Pilot Study
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. Eight stroke patients were enrolled for the purposes of the study in the chronic stage of recovery (i.e., at least 6  months after stroke). In two sessions, Patients were randomly assigned to treatment with real or sham c-iTBS applied over the cerebellar hemisphere ipsilateral to the affected body side. c-iTBS was applied immediately befor...
Source: The Cerebellum - May 28, 2020 Category: Neurology Source Type: research

Are Vermal Lobules VI –VII Smaller in Autism Spectrum Disorder?
AbstractCerebellar 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 (NCerebellum: 421 ASD and 370 TD participants;NVI –VII: 506 ASD and 290 TD participants). Total cerebellar volume, or VI –VII area, was plotted...
Source: The Cerebellum - May 22, 2020 Category: Neurology Source Type: research

Testosterone Levels Are Decreased and Associated with Disease Duration in Male Spinocerebellar Ataxia Type 2 Patients
AbstractSpinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in theATXN2 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. A case-control study involving 94 Cuban SCA2 pati...
Source: The Cerebellum - May 21, 2020 Category: Neurology Source Type: research

Impairment of Global Lower Limb Muscle Coactivation During Walking in Cerebellar Ataxias
AbstractThe 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. During walking, simultaneous acquisition of kinematic, kinetic, and ele...
Source: The Cerebellum - May 14, 2020 Category: Neurology Source Type: research

Pontocerebellar Hypoplasia: a Pattern Recognition Approach
We describe magnetic resonance imaging (MRI) findings and offer “checklists” for infratentorial findings (e.g., non-lobulated vermis, dragonfly pattern of the cerebellum, cerebellar cysts, brainstem kinking, longitudinal grooves along the brainstem, flat pons) as well as for supratent orial anomalies (e.g., agenesis of corpus callosum, optic atrophy, simplified gyral pattern, and hypomyelination). The clinical context and laboratory investigations need to be considered as well. We also provide a “checklist” for clinical features. A systematic analysis of imaging and clinical features can assist in n...
Source: The Cerebellum - May 14, 2020 Category: Neurology Source Type: research

The Use of Video-Head Impulse Test in Different Head Positions in Vertical Nystagmus and Ataxia Associated with Probable Thiamine Deficiency
AbstractUpward 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 behavio...
Source: The Cerebellum - May 14, 2020 Category: Neurology Source Type: research

Cerebellum: What is in a Name? Historical Origins and First Use of This Anatomical Term
AbstractIn 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. ” Instead, in his translation of Galen’s anatomical textDe utilitare particularum of 1307, Nicolo da Reggio used the Latinized Greek word “parencephalon. ” More peculiar was the Latin nautical term “puppi, ” referring to the stern of a sh...
Source: The Cerebellum - May 13, 2020 Category: Neurology Source Type: research

Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications
AbstractThe 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. This...
Source: The Cerebellum - May 13, 2020 Category: Neurology Source Type: research

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan
In conclusion, SCAR16 is an important but often neglected diagnosis of cerebellar ataxia of unknown cause, and the isolated cerebellar ataxia without involvement of other systems cannot be a basis to exclude the possibility ofSTUB1-related disease. (Source: The Cerebellum)
Source: The Cerebellum - May 4, 2020 Category: Neurology Source Type: research

Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients
AbstractSpinocerebellar 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. Demographic data, ataxia severity (SARA score), and the size of the expanded alleles were evaluated. Nineteen SCA3 and 18 SCA10 patients were selected and compared with a similar number of healthy controls. Patient and control groups underwent the same MRI protocol. The standard FreeSurfer pipeline was used for the morphometric data. Ou...
Source: The Cerebellum - May 4, 2020 Category: Neurology Source Type: research

Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14
AbstractSpinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase C γ (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. Seventeen patients with PRKCG variants and 17 healthy control s were prospectively recruited, of which 12 genetically confirmed SCA-PRKCG patients and 14 matched controls were analyzed. We enquired a structured history for...
Source: The Cerebellum - April 27, 2020 Category: Neurology Source Type: research

Diagnostic Criteria for Primary Autoimmune Cerebellar Ataxia —Guidelines from an International Task Force on Immune-Mediated Cerebellar Ataxias
AbstractAside 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. The proposed diagnostic crit...
Source: The Cerebellum - April 23, 2020 Category: Neurology Source Type: research

Cerebellar Scholars ’ Challenging Time in COVID-19 Pandemia
AbstractNovel 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. Cerebellar scholars are facing a time of uncertainty. Telemedicine has suddenly emerg...
Source: The Cerebellum - April 16, 2020 Category: Neurology Source Type: research

Distribution of the CAG Triplet Repeat in ATXN1 , ATXN3 , and CACNA1A Loci in Peruvian Population
AbstractSpinocerebellar 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 inATXN1,ATXN3, andCACNA1A genes in a Peruvian mestizo population and examine their association with the relative frequency of SCA1, MJD/SCA3, and SCA6 across populations. We genotyped 213 healthy mestizo individuals from North...
Source: The Cerebellum - April 13, 2020 Category: Neurology Source Type: research

Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
AbstractSCA36 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 inNOP56. 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. Phonological verbal fluency – but not semantic fluency – was already mildly impaired in preataxic subjects. In ataxic patients, both phonological and semantic fluencies were ...
Source: The Cerebellum - April 8, 2020 Category: Neurology Source Type: research

Nitric Oxide Critically Regulates Purkinje Neuron Dendritic Development Through a Metabotropic Glutamate Receptor Type 1 –Mediated Mechanism
This study is the first to explore morphological abnormalities within the cerebellum of nNOS−/− mice, using immunohistochemistry and immunoblotting. This study sought to examine PN dendritic morphology and the expression of metabotropic glutamate receptor type 1 (mGluR1), vesicular glutamate transporter type 1 and 2 (vGluT1 and vGluT2), stromal interaction molecule 1 (STIM1), and calpain-1 within PNs of WT and nNOS−/− mice at postnatal day 7 (PD7), 2  weeks (2W), and 7 weeks (7W) of age. Results showed a decrease in PN dendritic branching at PD7 in nNOS−/− cerebella, while aber...
Source: The Cerebellum - April 8, 2020 Category: Neurology Source Type: research

Neuroimaging Spectrum at Pre-, Early, and Late Symptomatic Stages of SCA17 Mice
AbstractSpinocerebellar 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. Magnetic resonance imaging (MRI) and immunostainings were performed to identify the neuroimaging spectrum during disease progression. The results indicate that despite an overall normal appearance at birth, postnatal brain da mage takes place rapidly in SCA17. Cerebellar atrophy, fourth-ventricle enlarg...
Source: The Cerebellum - April 8, 2020 Category: Neurology Source Type: research

Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research
(Source: The Cerebellum)
Source: The Cerebellum - April 6, 2020 Category: Neurology Source Type: research

Urinary Symptoms and Urodynamic Findings in Patients with Spinocerebellar Ataxia
AbstractUrinary 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. Twenty-two patients (menn = 9; age 62.1 ± 10.9; disease duration 8.2 ± 2.9 years) who ...
Source: The Cerebellum - March 19, 2020 Category: Neurology Source Type: research