Characterisation of the Mouse Cerebellar Proteome in the GFAP-IL6 Model of Chronic Neuroinflammation
This study investigated the cerebellum proteome using a top-down proteomics approach using 2-dimensional gel electrophoresis followed by liquid chromatography-coupled tandem mass spectrometry and correlated these data with motor deficits using the elevated beam walking and accelerod tests. In a detailed proteomic analysis, a total of 67 differentially expressed proteoforms including 47 cytosolic and 20 membrane-bound proteoforms were identified. Bioinformatics and literature mining analyses revealed that these proteins were associated with three distinct classes: metabolic and neurodegenerative processes as well as protein...
Source: The Cerebellum - July 29, 2021 Category: Neurology Source Type: research

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia
We report a 20-year-old Faroese female with early-onset progressive gait problems, weakness, dysphagia, slurred speech, orthostatic dizziness, and urge incontinence. Neurological examination revealed mild cognitive deficits, dysarthria, broken slow pursuit, hypometric saccades, weakness with spasticity, hyperreflexia, absent ankle reflexes, ataxia, and wide-based, spastic gait. Magnetic resonance imaging displayed atrophy of the cerebellum, brainstem, and spinal cord. Severely prolonged central motor conduction time and lower motor neuron involvement was demonstrated electrophysiologically. Fluorodeoxyglucose-positron emis...
Source: The Cerebellum - July 28, 2021 Category: Neurology Source Type: research

Cognitive Decline Is Closely Associated with Ataxia Severity in Spinocerebellar Ataxia Type 2: a Validation Study of the Schmahmann Syndrome Scale
The objective of this study is to determine the usefulness of the CCAS-S in a Cuban cohort of SCA2 patients and the relationship of its scores with disease severity. The original scale underwent a forward and backward translation into Spanish language, followed by a pilot study to evaluate its comprehensibility. Reliability, discriminant, and convergent validity assessments were conducted in 64 SCA2 patients and 64 healthy controls matched for sex, age, and education. Fifty patients completed the Montreal Cognitive Assessment (MoCA) test. The CCAS-S showed an acceptable internal consistency (Cronbach ’s alpha ...
Source: The Cerebellum - July 27, 2021 Category: Neurology Source Type: research

White Matter Microstructural Properties of the Cerebellar Peduncles Predict Change in Symptoms of Psychopathology in Adolescent Girls
AbstractInternalizing symptoms typically emerge in adolescence and are more prevalent in females than in males; in contrast, externalizing symptoms typically emerge in childhood and are more commonly observed in males. Previous research has implicated aspects of white matter organization, including fractional anisotropy (FA), of cerebral tracts in both internalizing and externalizing symptoms. Although the cerebellum has been posited to integrate limbic and cortical regions, its role in psychopathology is not well understood. In this longitudinal study, we investigated whether FA of the superior (SCP), middle (MCP), and in...
Source: The Cerebellum - July 26, 2021 Category: Neurology Source Type: research

Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia
In this study, we test the hypothesis that metrics derived from a single wrist sensor worn at home provide accurate, reliable, and interpretable information about neurological disease severity in children with A-T.A total of 15 children with A-T and 15 age- and sex-matched controls wore a sensor with a triaxial accelerometer on their dominant wrist for 1  week at home. Activity intensity measures, derived from the sensor data, were compared with in-person neurological evaluation on the Brief Ataxia Rating Scale (BARS) and performance on a validated computer mouse task.Children with A-T were inactive the same proportio...
Source: The Cerebellum - July 24, 2021 Category: Neurology Source Type: research

New Horizons on Non-invasive Brain Stimulation of the Social and Affective Cerebellum
AbstractThe cerebellum is increasingly attracting scientists interested in basic and clinical research of neuromodulation. Here, we review available studies that used either transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) to examine the role of the posterior cerebellum in different aspects of social and affective cognition, from mood regulation to emotion discrimination, and from the ability to identify biological motion to higher-level social inferences (mentalizing). We discuss how at the functional level the role of the posterior cerebellum in these different processes may be ex...
Source: The Cerebellum - July 16, 2021 Category: Neurology Source Type: research

Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time
AbstractSpinocerebellar ataxias (SCAs) are a large group of hereditary neurodegenerative diseases characterized by ataxia and dysarthria. Due to high clinical and genetic heterogeneity, many SCA families are undiagnosed. Herein, using linkage analysis, WES, and RP-PCR, we identified the largest SCA36 pedigree in Asia. This pedigree showed some distinct clinical characteristics. Cognitive impairment and gaze palsy are common and severe in SCA36 patients, especially long-course patients. Although no patients complained of hearing loss, most of them presented with hearing impairment in objective auxiliary examination. Voxel-b...
Source: The Cerebellum - July 15, 2021 Category: Neurology Source Type: research

Progression of Functional Gait in Hereditary Spastic Paraplegias
AbstractHereditary spastic paraplegias (HSP) are characterized by progressive deterioration of axonal projections of upper motor neurons leading to abnormal locomotion. The clinical course of HSP as well as the definition of the best instruments to assess its progression is largely unknown. The aim of this study was to investigate the progression of functional gait in individuals with HSP and to define sensitivity to change, minimal clinically important difference (MCID), and validity of timed functional tests of gait (TFT). The study was constituted of two phases: a cross-sectional study and a prospective cohort of 18 mon...
Source: The Cerebellum - July 9, 2021 Category: Neurology Source Type: research

Long-Term Application of Cerebellar Transcranial Direct Current Stimulation Does Not Improve Motor Learning in Parkinson ’s Disease
AbstractCerebellar transcranial direct current stimulation (c-tDCS) enhances motor skill acquisition and motor learning in young and old adults. Since the cerebellum is involved in the pathophysiology of Parkinson ’s disease (PD), c-tDCS may represent an intervention with potential to improve motor learning in PD. The primary purpose was to determine the influence of long-term application of c-tDCS on motor learning in PD. The secondary purpose was to examine the influence of long-term application of c-tDCS on transfer of motor learning in PD. The study was a randomized, double-blind, SHAM-controlled, between-subject...
Source: The Cerebellum - July 7, 2021 Category: Neurology Source Type: research

Neurocognitive Changes in Spinocerebellar Ataxia Type 3: A Systematic Review with a Narrative Design
AbstractSpinocerebellar ataxia type 3 (SCA3), the commonest dominantly inherited ataxia worldwide, is characterized by disruption in the cerebellar-cerebral and striatal-cortical networks. Findings on SCA3-associated cognitive impairments are mixed. The classification models, tests and scoring systems used, language, culture, ataxia severity, and depressive symptoms are all potential confounders in neuropsychological assessments and may have contributed to the heterogeneity of the neurocognitive profile of SCA3. We conducted a systematic review of studies evaluating neurocognitive function in SCA3 patients. Of 1304 article...
Source: The Cerebellum - July 7, 2021 Category: Neurology Source Type: research

Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado –Joseph Disease
This study describes the HRQoL results obtained from ataxic SCA3/MJD subjects, and their non-ataxic offspring included in the BIGPRO (Biomarkers and genetic modifiers in a study of presymptomatic and symptomatic SCA3/MJD carriers) study. Demographic data, clinical scale s, and HRQoL instruments EQ-5D-3L and SF-36 were collected. Subjects at 50% risk were genotyped in a double-blind manner. The time left until the onset of the disease was estimated for mutation carriers with a SARA 
Source: The Cerebellum - July 6, 2021 Category: Neurology Source Type: research

The Cost of Living with Inherited Ataxia in Ireland
AbstractInherited ataxias are a heterogenous group of neurodegenerative disorders characterised by progressive impairment of balance and coordination, typically leading to permanent and progressive disability. Diagnosis and management of these disorders incurs a range of direct and indirect financial costs. The aim of this study was to collect individual ataxia-related healthcare resources in a large cohort of individuals with different subtypes of inherited ataxia and calculate the associated cost of illness in the Republic of Ireland. One hundred twenty-nine respondents completed a cross-sectional study on healthcare res...
Source: The Cerebellum - July 6, 2021 Category: Neurology Source Type: research

PD-1-inhibitor-induced PCA-2 (MAP1B) Autoimmunity in a Patient with Renal Cell Carcinoma
We report a patient who developed a subacute cerebellar syndrome shortly after starting treatment with nivolumab, a PD-1 inhibitor, for renal clear cell carcinoma, with detectable paraneoplastic PCA-2 antibodies. The tumor specimen stained positively for MAP1B, the antigen of PCA-2. The patient responded well to treatment with glucocorticosteroids. This is the first case to our knowledge of PCA-2 paraneoplastic cerebellar degeneration associated with ICI use, which presents in a patient with a malignancy not typically associated with neurological paraneoplastic phenomena. Treatment with immune checkpoint inhibitors (ICIs) ...
Source: The Cerebellum - June 26, 2021 Category: Neurology Source Type: research

Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies
AbstractIn this multiple single-cases study, we used dance to train sensorimotor synchronization (SMS), motor, and cognitive functions in children with developmental cerebellar anomalies (DCA). DCA are rare dysfunctions of the cerebellum that affect motor and cognitive skills. The cerebellum plays an important role in temporal cognition, including SMS, which is critical for motor and cognitive development. Dancing engages the SMS neuronal circuitry, composed of the cerebellum, the basal ganglia, and the motor cortices. Thus, we hypothesized that dance has a beneficial effect on SMS skills and associated motor and cognitive...
Source: The Cerebellum - June 24, 2021 Category: Neurology Source Type: research

Deep Cerebellar Nuclei Functional Connectivity with Cerebral Cortex in Temporal Lobe Epilepsy With and Without Focal to Bilateral Tonic –Clonic Seizures: a Resting-State fMRI Study
AbstractWe aimed to explore the altered functional connectivity patterns within cerebello-cerebral circuits in temporal lobe epilepsy (TLE) patients with and without focal to bilateral tonic –clonic seizures (FBTCS). Forty-two patients with unilateral TLE (21 with and 21 without FBTCS) and 22 healthy controls were recruited. We chose deep cerebellar nuclei as seed regions, calculated static and dynamic functional connectivity (sFC and dFC) in the patients with and without FBTCS and he althy controls, and compared sFC and dFC among the three groups. Correlation analyses were used to assess relationships between the si...
Source: The Cerebellum - June 23, 2021 Category: Neurology Source Type: research

Can Dyssynergia of Vestibulosympathetic and Baroreflexes Cause Vestibular Syncope? The Hypothesis Based on the Velocity-Storage Function
This study aims to clarify the mechanism of vestibular syncope by pursuing the function of vestibular system in cardiovascular autonomic control and by defining neuro-hemodynamic changes in vestibular syncope. By integrating the velocity-storage (VS) circuit in the brainstem and cerebellum, we propose that the vestibular syncope develops as a result of dyssynergia of the vestibulosympathetic and baroreflexes in which centrally estimated downward inertial acceleration during the vertigo attacks acts as a trigger. Recognition of the vestibular disorders as a possible cause of syncope would allow proper managements for preven...
Source: The Cerebellum - June 22, 2021 Category: Neurology Source Type: research

Anodal Transcranial Direct Current Stimulation over the Cerebellum Enhances Sadness Recognition in Parkinson ’s Disease Patients: a Pilot Study
In this study, we aimed to evaluate whether the recognition of facia l expressions can be modulated by cerebellar transcranial direct current stimulation (tDCS) in PD patients. Nine PD patients were enrolled and received anodal and sham tDCS (2 mA, 20 min), for 5 consecutive days, in two separate cycles at intervals of at least 1 month. The facial emotion recognit ion task was administered at baseline (T0) and after cerebellar tDCS on day 5 (T1). Our preliminary study showed that anodal cerebellar tDCS significantly enhanced emotional recognition in response to sad facial expressions by about 16%, but left r...
Source: The Cerebellum - June 22, 2021 Category: Neurology Source Type: research

Commentary on “Subcellular Fractions of Adult and Developing Rat Cerebellum, by M. del Cerro, R. S. Snider and M. L. Oster, July 1969”
AbstractSubcellular fractionation by differential ultracentrifugation has allowed the study of the cell and its organelles from a morphological, physiological, and biochemical perspective. Combined with electron microscopy, and by using animals at different stages of postnatal development, these methods yielded useful results concerning the ontogeny of synaptosomes, mitochondria, and myelin and broadened the possibilities to investigate the molecular underpinnings of cerebellar histogenesis. (Source: The Cerebellum)
Source: The Cerebellum - June 21, 2021 Category: Neurology Source Type: research

Exploring Subcellular Cerebellar Fractions with the Electron Microscope
AbstractDifferential ultracentrifugation and subcellular fractionation historically helped to study the components of the cell, to discover new cellular organelles, and to decipher their morphological and molecular properties. In neuroscience, the technique has yielded important results on neuron biochemistry and the mechanisms of synaptic transmission. ThisCerebellar Classic is devoted to the pioneering work of Manuel del Cerro, Ray S. Snider, and Mary Lou Oster-Granite, who isolated purified fractions after successive centrifugations of the rat cerebellum from birth to adulthood and studied them under the electron micros...
Source: The Cerebellum - June 21, 2021 Category: Neurology Source Type: research

Interaction Between Cerebellum and Cerebral Cortex, Evidence from Dynamic Causal Modeling
AbstractThe interaction of the cerebellum with cerebral cortical dynamics is still poorly understood. In this paper, dynamical causal modeling is used to examine the interaction between cerebellum and cerebral cortex as indexed by MRI resting-state functional connectivity in three large-scale networks on healthy young adults (N  = 200; Human Connectome Project dataset). These networks correspond roughly to default mode, task positive, and motor as determined by prior cerebellar functional gradient analyses. We find uniform interactions within all considered networks from cerebellum to cerebral cortex, providi...
Source: The Cerebellum - June 19, 2021 Category: Neurology Source Type: research

Correction to: Abnormal Cerebellar Volume in Patients with Remitted Major Depression with Persistent Cognitive Deficits
(Source: The Cerebellum)
Source: The Cerebellum - June 19, 2021 Category: Neurology Source Type: research

Quantitative Evaluation of Cerebellar Function in Multiple System Atrophy with Transcranial Magnetic Stimulation
This study was conducted to quantify cerebellar dysfunction using CBI in cerebellar type multiple system atrophy (MSA-C) patients. First, CBI was measured using MEP elicited from a hand muscle by stimulating the hand motor area of M1. The amount of CBI was defined as the degree of decrease in the MEP amplitude in the presence of cerebellar stimulation compared with the condition of M1 stimulation alone. Results of the MSA-C patients were compared with those of healthy volunteers. Correlation between amounts of CBI and a clinical scale of ataxia, the International Cooperative Ataxia Scale Rating (ICARS), was assessed. Healt...
Source: The Cerebellum - June 14, 2021 Category: Neurology Source Type: research

Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers
AbstractSpinocerebellar ataxias type 1 (SCA1) is an autosomal dominant disease usually manifesting in adulthood. We performed a prospective 1-year longitudinal study in 14 presymptomatic mutation carriers (preSCA1), 11 ataxic patients, and 21 healthy controls. SCA1 patients had a median disease duration of 6  years (range 2–16) and SARA score of 7 points (range 3.5–20).PreSCA1 had an estimated time before disease onset of 9.7  years (range 4–30), and no signs of ataxia. At baseline, SCA1 patients significantly differed from controls in SARA score (Scale for Assessment and Rating of Ataxia), cogn...
Source: The Cerebellum - June 9, 2021 Category: Neurology Source Type: research

Adult Age Differences in Self-Reported Pain and Anterior CSF Space in Chiari Malformation
The objective of this study was to better understand the relationships among these variables using causal modeling techniques. Adult CMI patients (80% female) who either had (n = 150) or had not (n = 151) undergone posterior fossa decompression surgery were assessed using morphometric measures derived from magnetic resonance images (MRI). MRI-based morphometry showed that the area of the CSF pocket anterior to the cervico-medullary junction (anterior CSF space) correlated with age at the time of MRI (r =  − .21). Also, self-reported pain increased with age (r&th...
Source: The Cerebellum - June 9, 2021 Category: Neurology Source Type: research

Mapping the Cerebellar Cognitive Affective Syndrome in Patients with Chronic Cerebellar Strokes
This study extends the understanding of long-term CCAS and introduces multivariate LSM methods to identif y clinically intra- and cross-lobular significant regions underpinning chronic CCAS. (Source: The Cerebellum)
Source: The Cerebellum - June 9, 2021 Category: Neurology Source Type: research

PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia
AbstractThe glycophosphatidylinositol (GPI) anchor pathway plays an essential role in posttranslational modification of proteins to facilitate proper membrane anchoring and trafficking to lipid rafts, which is critical for many cell functions, including embryogenesis and neurogenesis. GPI biosynthesis is a multi-step process requiring the activity of over 25 distinct genes, most of them belonging to the phosphatidylinositol glycan (PIG) family and associated with rare neurodevelopmental disorders.PIGQ encodes the phosphatidylinositol glycan class Q protein and is part of the GPI-N-acetylglucosaminyltransferase complex that...
Source: The Cerebellum - June 5, 2021 Category: Neurology Source Type: research

Mini-review: The Role of the Cerebellum in Visuomotor Adaptation
AbstractThe incredible capability of the brain to quickly alter performance in response to ever-changing environment is rooted in the process of adaptation. The core aspect of adaptation is to fit an existing motor program to altered conditions. Adaptation to a visuomotor rotation or an external force has been well established as tools to study the mechanisms underlying sensorimotor adaptation. In this mini-review, we summarize recent findings from the field of visuomotor adaptation. We focus on the idea that the cerebellum plays a central role in the process of visuomotor adaptation and that interactions with cortical str...
Source: The Cerebellum - June 2, 2021 Category: Neurology Source Type: research

Correction to: Neurofilament Light Chain is a Biomarker of Neurodegeneration in Ataxia Telangiectasia
A correction to this paper has been published: https://doi.org/10.1007/s12311-021-01280-5 (Source: The Cerebellum)
Source: The Cerebellum - June 2, 2021 Category: Neurology Source Type: research

Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders
This study aims to explore cerebellar and brain abnormalities identified on MRI as potential predictors of ataxia in patients with PMD and, likewise, to determine the effect of the patient ’s genetic profile on these predictors as well as determination of the temporal relationship of clinical ataxia with MRI findings. We evaluated clinical, radiological, and genetic characteristics of 111 PMD patients younger than 21 years of age at The Children’s Hospital of Philadelphia. Data w as extracted from charts. Blinded radiological evaluations were carried out by experienced neuroradiologists. Multivariate logis...
Source: The Cerebellum - May 30, 2021 Category: Neurology Source Type: research

Delineating the Decussating Dentato-rubro-thalamic Tract and Its Connections in Humans Using Diffusion Spectrum Imaging Techniques
The objective of this study was to identify the decussating dentato-rubro-thalamic tract (d-DRTT) and its afferent and efferent connections in healthy humans using diffusion spectrum imaging (DSI) techniques. In the present study, the trajectory and lateralization of the d-DRTT was explored using data from subjects in the Massachusetts General Hospital-Human Connectome Project adult diffusion dataset. The afferent and efferent networks that compose the cerebello-thalamo-cerebral pathways were also reconstructed. Correlation analysis was performed to identify interrelationships between subdivisions of the cerebello-dentato-...
Source: The Cerebellum - May 29, 2021 Category: Neurology Source Type: research

Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome
AbstractFragile X-associated tremor/ataxia syndrome (FXTAS), first described in 2001, is a neurodegenerative and movement disorder, caused by a premutation in thefragile X mental retardation 1 (FMR1) gene. To date, the biological mechanisms causing this condition are still not well understood, as not all premutation carriers develop FXTAS. To further understand this syndrome, we quantitatively compared the cerebrospinal fluid (CSF) proteome of FXTAS patients with age-matched controls using mass spectrometry. We identified 415 proteins of which 97 were altered in FXTAS patients. These proteins suggest changes in acute phase...
Source: The Cerebellum - May 27, 2021 Category: Neurology Source Type: research

Cerebro-Cerebellar Response to Sequence Violation in a Cognitive Task: an fMRI Study
AbstractThe phonological loop is part of Baddeley ’s verbal working memory (VWM) model that stores phonological information and refreshes its contents through an articulatory process. Many studies have reported the cerebellum’s involvement during VWM tasks. In the motor literature, the cerebellum is thought to support smooth and rapid movement sequences through internal models that simulate the action of motor commands, then use the error signals generating from the discrepancy between the predicted and actual sensory consequences to adjust the motor system. Here, we hypothesize that a similar monitoring and er...
Source: The Cerebellum - May 22, 2021 Category: Neurology Source Type: research

Interactions Between Cerebellum and the Intracortical Excitatory Circuits of Motor Cortex: a Mini-Review
AbstractInteractions between cerebellum (CB) and primary motor cortex (M1) are critical for effective motor function. Although the associated neurophysiological processes are yet to be fully characterised, a growing body of work using non-invasive brain stimulation (NIBS) techniques has significantly progressed our current understanding. In particular, recent developments with both transcranial magnetic (TMS) and direct current (tDCS) stimulation suggest that CB modulates the activity of local excitatory interneuronal circuits within M1. These circuits are known to be important both physiologically and functionally, and un...
Source: The Cerebellum - May 12, 2021 Category: Neurology Source Type: research

Gaze-holding and anti-GAD antibody: prototypic heterogeneous motor dysfunction in immune disease
AbstractThe variability in motor dysfunction is not uncommon in autoimmune disorders. Antibody-mediated system-wide malfunction or effects on the neural network shared by two independent pathophysiological processes can cause such heterogeneity. We tested this prediction for motor dysfunction during gaze holding in 11 patients with increased titers of glutamic acid decarboxylase (anti-GAD) antibody. High-resolution oculography measured horizontal and vertical eye positions. The analysis was performed with customized signal processing algorithms. Downbeat and gaze-evoked nystagmus commonly coexisted; one patient had a combi...
Source: The Cerebellum - May 11, 2021 Category: Neurology Source Type: research

The Effects of Exergame on Postural Control in Individuals with Ataxia: a Rater-Blinded, Randomized Controlled, Cross-over Study
AbstractExergame trainings might have therapeutic value in ataxic patients. The aim of this study was to investigate the effect of exergame training with an exercise program on postural control by comparing it with traditional balance and coordination exercise program. Nineteen patients were randomly allocated to two groups. In the first group, exergame training and an exercise program (EEP) were applied together for the first 8  weeks; after 10 weeks washout, a conventional exercise program (CEP) was applied for the second 8 weeks. In the second group, the CEP was applied first followed by the EEP. Outcome ...
Source: The Cerebellum - May 11, 2021 Category: Neurology Source Type: research

Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
AbstractPrevious studies using whole exome sequencing (WES) have shown that a significant proportion of adult patients with undiagnosed ataxia in European and North American cohorts have a known genetic cause. Little is known about the diagnostic yield of WES in non-Caucasian ataxic populations. Herein, we used WES to investigate a Brazilian cohort of 76 adult patients with idiopathic ataxia previously screened for trinucleotide expansions in known ataxia genes. We collected clinical and radiological data from each patient. WES was performed following standard procedures. Only variants labeled as pathogenic or likely patho...
Source: The Cerebellum - May 6, 2021 Category: Neurology Source Type: research

Correction to: From Cerebellar Apoplexy in 1849 to Cerebellar Stroke in the 2020s: Robert Dunn ’s Contribution
A correction to this paper has been published:https://doi.org/10.1007/s12311-021-01274-3 (Source: The Cerebellum)
Source: The Cerebellum - May 5, 2021 Category: Neurology Source Type: research

Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia
AbstractAtaxia telangiectasia (A-T) is a progressive and life-limiting disease associated with cerebellar ataxia due to progressive cerebellar degeneration. In addition to ataxia, which is described in detail, the presence of chorea, dystonia, oculomotor apraxia, athetosis, parkinsonism, and myoclonia are typical manifestations of the disease. The study aimed to evaluate the specificity and sensitivity of neurofilament light chain (NfL) as a biomarker of neurodegeneration in relation to SARA score. In this prospective trial, one visit of 42 A-T patients aged 1.3 –25.6 years (mean 11.6 ± 7.3 years) was performe...
Source: The Cerebellum - April 24, 2021 Category: Neurology Source Type: research

Reduced Cerebellar Brain Inhibition Measured Using Dual-Site TMS in Older Than in Younger Adults
AbstractDual-site transcranial magnetic stimulation (TMS) can be used to measure the cerebellar inhibitory influence on the primary motor cortex, known as cerebellar brain inhibition (CBI), which is thought to be important for motor control. The aim of this study was to determine whether age-related differences in CBI (measured at rest) were associated with an age-related decline in bilateral motor control measured using the Purdue Pegboard task, the Four Square Step Test, and a 10-m walk. In addition, we examined test re-test reliability of CBI measured using dual-site TMS with a figure-of-eight coil in two sessions. Ther...
Source: The Cerebellum - April 20, 2021 Category: Neurology Source Type: research

Gluten Ataxia: an Overestimated Condition?
(Source: The Cerebellum)
Source: The Cerebellum - April 20, 2021 Category: Neurology Source Type: research

Gluten Ataxia: an Underdiagnosed Condition
(Source: The Cerebellum)
Source: The Cerebellum - April 20, 2021 Category: Neurology Source Type: research

Contributions of Cerebellar White Matter Microstructure to Social Difficulty in Nonverbal Learning Disability
AbstractEmerging evidence suggests that the cerebellum may contribute to variety of cognitive capacities, including social cognition. Nonverbal learning disability (NVLD) is characterized by visual-spatial and social impairment. Recent functional neuroimaging studies have shown that children with NVLD have altered cerebellar resting-state functional connectivity, which is associated with various symptom domains. However, little is known about cerebellar white matter microstructure in NVLD and whether it contributes to social deficits. Twenty-seven children (12 with NVLD, 15 typically developing (TD)) contributed useable di...
Source: The Cerebellum - April 15, 2021 Category: Neurology Source Type: research

Instrumented Objective Clinical Examination of Cerebellar Ataxia: the Upper and Lower Limb —a Review
This study describes instrumented versions of several bed side tests of cerebellar function, including rhythmic tapping of the hand (RTH), finger-nose test (FNT), dysdiadochokinesia (DDK), ramp tracking (RMT), ballistic tracking (BT), rhythmic tapping of the foot (RTF) and the heel shin (HST) examination which were validated against scores from Ataxia Rati ng Scales (ARS) such as the Scale of Assessment and Rating of Ataxia (SARA). While all of the instrumented tests accurately distinguished between ataxic subjects and controls, there was a difference in performance, with the best four performing upper limb tests being RTH...
Source: The Cerebellum - April 14, 2021 Category: Neurology Source Type: research

Epigenetic Regulation of Neural Transmission after Cerebellar Fastigial Nucleus Lesions in Juvenile Rats
AbstractStructural and functional abnormalities in the cerebellar midline region, including the fastigial nucleus, have been reported in neuropsychiatric disorders, also comprising the cerebellar cognitive affecting syndrome. In rats, early fastigial lesions reduce social interaction during development and lead to cognitive and emotional deficits in adults, accompanied by compromised neuronal network activity. Since epigenetic mechanisms are implicated in the etiology of neuropsychiatric disorders, we investigated whether fastigial nucleus lesions in juvenile rats would impact epigenetic regulation of neural transmission. ...
Source: The Cerebellum - April 8, 2021 Category: Neurology Source Type: research

Functional Role of Cerebellar Gamma Frequency in Motor Sequences Learning: a tACS Study
AbstractAlthough the role of the cerebellum in motor sequences learning is widely established, the specific function of its gamma oscillatory activity still remains unclear. In the present study, gamma (50 Hz) —or delta (1 Hz)—transcranial alternating current stimulation (tACS) was applied to the right cerebellar cortex while participants performed an implicit serial reaction time task (SRTT) with their right hand. The task required the execution of motor sequences simultaneously with the presentation of a series of visual stimuli. The same sequence was repeated across multiple task blocks (from blocks 2 to 5 a...
Source: The Cerebellum - April 6, 2021 Category: Neurology Source Type: research

Essential Tremor versus “ET-plus”: A Detailed Postmortem Study of Cerebellar Pathology
This study demonstrated there were no pathological differences in cerebellar cortex between ET versus ET-plus cases. These data do not support the notion that ET and ET-plus represent distinct clinical-pathological e ntities. (Source: The Cerebellum)
Source: The Cerebellum - March 25, 2021 Category: Neurology Source Type: research

Impacts of the COVID-19 Pandemic on the Mental Health and Motor Deficits in Cuban Patients with Cerebellar Ataxias
AbstractAlthough there are no convincing evidences of detrimental effect of SARS-CoV2 infection on the cerebellum, the COVID-19 pandemic could impact the life quality of patients with cerebellar ataxias, but few studies have addressed this concern. To assess the motor and mental health changes caused by the COVID-19 pandemics in Cuban patients with cerebellar ataxias, three hundred four patients with cerebellar ataxias and 167 healthy controls were interviewed for risks of exposure to COVID-19, and the self-perception of the pandemics ’ impact on the disease progression and on the mental health. All subjects underwen...
Source: The Cerebellum - March 25, 2021 Category: Neurology Source Type: research

LTDpathies: a Novel Clinical Concept
(Source: The Cerebellum)
Source: The Cerebellum - March 22, 2021 Category: Neurology Source Type: research

Response to ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population
(Source: The Cerebellum)
Source: The Cerebellum - March 17, 2021 Category: Neurology Source Type: research

Cerebellar Degeneration Signature in Huntington ’s Disease
AbstractRecent findings suggest a significant effect of the cerebellar circuit deterioration on the clinical manifestation of Huntington ’s disease, calling for a better understanding of the cerebellar degeneration in this disorder. Recent brain imaging analyses have provided conflicting results regarding the cerebellar changes during the progression of this disease. To help in resolving this controversy, we examined the cerebellar gray matter structural integrity from a cohort of HD patients. Whole brain voxel-based morphometry (VBM) and spatially unbiased atlas template of the human cerebellum (SUIT) analyses were ...
Source: The Cerebellum - March 15, 2021 Category: Neurology Source Type: research