Cerebellar Cognitive Affective Syndrome in Mexican Pediatric Patients with Ataxia-Telangiectasia
AbstractAtaxia-telangiectasia (A-T) is a disease caused by mutations in the ATM gene (11q22.3-23.1) that induce neurodegeneration Sasihuseyinoglu AS et al. Pediatr Allergy Immunol Pulmonol 31(1):9–14,2018, Teive HAG et al. Parkinsonism Relat Disord 46:3–8,2018. Clinically, A-T is characterized by ataxia, mucocutaneous telangiectasia, immunodeficiency, and malignancy. Movement disorders have been the most described and well-studied symptoms of A-T. Other studies have reported visuospatial processing disorders, executive function disorders and emotional regulation disorders, which are clinical manifestations that ch...
Source: The Cerebellum - February 21, 2023 Category: Neurology Source Type: research
Smaller Cerebellar Lobule VIIb is Associated with Tremor Severity in Parkinson ’s Disease
AbstractAlterations
in the cerebellum ’s morphology in Parkinson’s disease (PD) point to its pathophysiological involvement in this movement disorder. Such abnormalities have previously been attributed to different PD motor subtypes. The aim of the study was to relate volumes of specific cerebellar lobules to motor symptom severity, in particular tremor (TR), bradykinesia/rigidity (BR), and postural instability and gait disorders (PIGD) in PD. We performed a volumetric analysis based on T1-weighted MRI images of 55 participants with PD (22 females, median age 65 years, Hoehn and Yahr stage 2). Multiple regression ...
Source: The Cerebellum - February 20, 2023 Category: Neurology Source Type: research
Multi-focal Stimulation of the Cortico-cerebellar Loop During the Acquisition of a Novel Hand Motor Skill in Chronic Stroke Survivors
AbstractImpairment of hand motor function is a frequent consequence after a stroke and strongly determines the ability to regain a self-determined life. An influential research strategy for improving motor deficits is the combined application of behavioral training and non-invasive brain stimulation of the motor cortex (M1). However, a convincing clinical translation of the present stimulation strategies has not been achieved yet. One alternative and innovative approach is to target the functionally relevant brain network-based architecture, e.g., the dynamic interactions within the cortico-cerebellar system during learnin...
Source: The Cerebellum - February 18, 2023 Category: Neurology Source Type: research
Sepsis Impairs Purkinje Cell Functions and Motor Behaviors Through Microglia Activation
AbstractThe most common clinical manifestation of sepsis-related encephalopathy (SAE) is the deterioration of cognitive function. Besides, increasing evidence shows that SAE patients exhibit coordination and sensorimotor dysfunctions, suggesting that SAE affects motor function with unclear mechanism. In the present work, we explored the effects of SAE on cerebellar Purkinje cells (PCs) using cecal ligation and perforation (CLP), a standard model for inducing sepsis symptoms similar to those in human patients. Our results show that the sepsis can activate microglia in the cerebellum and promote the secretion of inflammatory...
Source: The Cerebellum - February 15, 2023 Category: Neurology Source Type: research
Cerebellum Lecture: the Cerebellar Nuclei —Core of the Cerebellum
AbstractThe cerebellum is a key player in many brain functions and a major topic of neuroscience research. However, the cerebellar nuclei (CN), the main output structures of the cerebellum, are often overlooked. This neglect is because research on the cerebellum typically focuses on the cortex and tends to treat the CN as relatively simple output nuclei conveying an inverted signal from the cerebellar cortex to the rest of the brain. In this review, by adopting a nucleocentric perspective we aim to rectify this impression. First, we describe CN anatomy and modularity and comprehensively integrate CN architecture with its h...
Source: The Cerebellum - February 13, 2023 Category: Neurology Source Type: research
Correction to: The Role of the Cerebellum in Visual-Spatial Memory in Pediatric Posterior Fossa Tumor Survivors
(Source: The Cerebellum)
Source: The Cerebellum - February 13, 2023 Category: Neurology Source Type: research
SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?
We describe a novel superoxide dismutase (SOD1) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin (Cp) gene, which may have possibly contributed to a multi-factorial phenotype, supported by genetic and protein structure analyses. (Source: The Cerebellum)
Source: The Cerebellum - February 9, 2023 Category: Neurology Source Type: research
Correction to: Catch-Up Saccades in Vestibular Hypofunction: A Contribution of the Cerebellum?
(Source: The Cerebellum)
Source: The Cerebellum - February 9, 2023 Category: Neurology Source Type: research
The Role of the Cerebellum in Visual-Spatial Memory in Pediatric Posterior Fossa Tumor Survivors
AbstractThe cerebellum is involved in motor and non-motor functions. Cerebellar lesions can underlie the disruption of various executive functions. The violation of executive functions in cerebellar lesions is a serious problem, since children, after completing treatment, must return to school, finish their education, and get a profession. One of the important executive functions is working memory, which contributes to academic success. Deficits of verbal working memory in cerebellar tumors have been studied, in contrast to visual-spatial working memory. To assess this issue, 101 patients who survived cerebellar tumors and...
Source: The Cerebellum - February 4, 2023 Category: Neurology Source Type: research
A Pilot Study to Develop Paraneoplastic Cerebellar Degeneration Mouse Model
AbstractModeling paraneoplastic neurological diseases to understand the immune mechanisms leading to neuronal death is a major challenge given the rarity and terminal access of patients ’ autopsies. Here, we present a pilot study aiming at modeling paraneoplastic cerebellar degeneration with Yo autoantibodies (Yo-PCD). Female mice were implanted with an ovarian carcinoma cell line expressing CDR2 and CDR2L, the known antigens recognized by anti-Yo antibodies. To boost the immune response, we also immunized the mice by injecting antigens with diverse adjuvants and immune checkpoint inhibitors. Ataxia and gait instability ...
Source: The Cerebellum - February 2, 2023 Category: Neurology Source Type: research
Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3
AbstractBrainstem degeneration is a prominent feature of spinocerebellar ataxia type 3 (SCA3), involving structures that execute binaural synchronization with microsecond precision. As a consequence, auditory processing may deteriorate during the course of disease. We tested whether the binaural “Huggins pitch” effect is suitable to study the temporal precision of brainstem functioning in SCA3 mutation carriers. We expected that they would have difficulties perceiving Huggins pitch at high frequencies, and that they would show attenuated neuromagnetic responses to Huggins pitch. The upp er limit of Huggins pitch percep...
Source: The Cerebellum - January 30, 2023 Category: Neurology Source Type: research
Autoimmune Cerebellar Ataxia Associated with Anti-Glutamate Receptor δ2 Antibodies: a Rare but Treatable Entity
We report two novel cases of autoimmune cerebellar ataxia (ACA) associated with anti-glutamate receptor δ2 antibodies (Gluδ2-Abs). The first case was confirmed by indirect immunofluorescence and cell-based assays: a 29-year-old woman presented after 5 days of headache and vomiting, a pancerebellar syndrome, downbeat nystagmus, decreased visual acuity linked to bilateral retrobulbar optic neuritis ( RON), and lymphocytic pleocytosis in the cerebrospinal fluid (CSF) without any abnormality detected using cerebral magnetic resonance imaging (MRI). Second-line immunotherapy allowed progressive clinical improvement, with ful...
Source: The Cerebellum - January 25, 2023 Category: Neurology Source Type: research
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34
AbstractAutosomal dominant variants inELOVL4 cause spinocerebellar ataxia type 34 (SCA34; ATX-ELOVL4), classically associated with a skin condition known as erythrokeratoderma. Here, we report a large Italian-Maltese-Australian family with spinocerebellar ataxia. Notably, while there were dermatological manifestations (eczema), erythrokeratoderma was not present. Using a next-generation sequencing panel, we identified a previously reportedELOVL4 variant, NM_022726.4: c.698C > T p.(Thr233Met). The variant was initially classified as a variant of uncertain significance; however, through segregation studies, we recla...
Source: The Cerebellum - January 25, 2023 Category: Neurology Source Type: research
Static Balance in Hereditary Spastic Paraplegias: a Cross-sectional Study
AbstractMotor and somatosensory pathway dysfunction due to degeneration of long tracts in hereditary spastic paraplegias (HSP) indicates that postural abnormalities may be a relevant disease feature. However, balance assessments have been underutilized to study these conditions. How does the static balance of individuals with HSP with eyes open and closed differ from healthy controls, and how does it relate to disease severity? This cross-sectional case –control study assessed the static balance of 17 subjects with genetically confirmed HSP and 17 healthy individuals, evaluating the center of pressure (COP) variables cap...
Source: The Cerebellum - January 24, 2023 Category: Neurology Source Type: research
Olov Oscarsson (1931 –1996) of Lund University, a Pioneer in Cerebellar Neurobiology
AbstractThe presentCerebellar Classic highlights the experimental work of the Swedish neurophysiologist Olov Oscarsson (1931 –1996) on the afferent innervation of the cerebellum by axons emanating from neurons in the spinal cord and the inferior olive. Historically, the schemes of cerebellar division had been principally based on the external morphology of lobules and fissures. However, the macroscopic anatomical divisi on of the cerebellum does not coincide with its pattern of functional organization. By defining a system of longitudinal somatotopy, Oscarsson contributed to the much needed plan of cerebellar division th...
Source: The Cerebellum - January 24, 2023 Category: Neurology Source Type: research
