Clinical Heterogeneity of Essential Tremor: Understanding Neural Substrates of Action Tremor Subtypes
AbstractEssential tremor (ET) is a common movement disorder affecting millions of people. Studies of ET patients and perturbations in animal models have provided a foundation for the neural networks involved in its pathophysiology. However, ET encompasses a wide variability of phenotypic expression, and this may be the consequence of dysfunction in distinct subcircuits in the brain. The cerebello-thalamo-cortical circuit is a common substrate for the multiple subtypes of action tremor. Within the cerebellum, three sets of cerebellar cortex-deep cerebellar nuclei connections are important for tremor. The lateral hemispheres...
Source: The Cerebellum - April 6, 2023 Category: Neurology Source Type: research
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
AbstractTo accelerate and facilitate clinical trials, the Ataxia Global Initiative (AGI) was established as a worldwide research platform for trial readiness in ataxias. One of AGI ’s major goals is the harmonization and standardization of outcome assessments. Clinical outcome assessments (COAs) that describe or reflect how a patient feels or functions are indispensable for clinical trials, but similarly important for observational studies and in routine patient care. The AG I working group on COAs has defined a set of data including a graded catalog of COAs that are recommended as a standard for future assessment and sh...
Source: The Cerebellum - April 5, 2023 Category: Neurology Source Type: research
Oculomotor Impairments in Children After Posterior Fossa Tumors Treatment
AbstractPosterior fossa tumors (PFT) are the most common pediatric brain tumors, and the study of the somatic and cognitive status of PFT survivors still remains a critical problem. Since cerebellar damage can affect eye movement centers located in the vermis and hemispheres, such patients suffer from disturbances in visual perception, visual-spatial functions, reading, etc. Our investigation aimed at describing oculomotor impairments in PFT survivors linked to core oculomotor functions assessed through eye tracking method: gaze holding, reflexive saccades, and organization of voluntary saccades and their dependency on age...
Source: The Cerebellum - March 31, 2023 Category: Neurology Source Type: research
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
AbstractWith SCAview, we present a prompt and comprehensive tool that enables scientists to browse large datasets of the most common spinocerebellar ataxias intuitively and without technical effort. Basic concept is a visualization of data, with a graphical handling and filtering to select and define subgroups and their comparison. Several plot types to visualize all data points resulting from the selected attributes are provided. The underlying synthetic cohort is based on clinical data from five different European and US longitudinal multicenter cohorts in spinocerebellar ataxia type 1, 2, 3, and 6 (SCA1, 2, 3, and 6) co...
Source: The Cerebellum - March 31, 2023 Category: Neurology Source Type: research
Left Cerebellar Lesions may be Associated with an Increase in Spatial Neglect-like Symptoms
AbstractEach cerebellar hemisphere projects to the contralateral cerebral hemisphere. Previous research suggests a lateralization of cognitive functions in the cerebellum that mirrors the cerebral cortex, with attention/visuospatial functions represented in the left cerebellar hemisphere, and language functions in the right cerebellar hemisphere. Although there is good evidence supporting the role of the right cerebellum with language functions, the evidence supporting the notion that attention and visuospatial functions are left lateralized is less clear. Given that spatial neglect is one of the most common disorders aris...
Source: The Cerebellum - March 30, 2023 Category: Neurology Source Type: research
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes
AbstractThe association of hypogonadism and cerebellar ataxia was first recognized in 1908 by Gordon Holmes. Since the seminal description, several heterogeneous phenotypes have been reported, differing for age at onset, associated features, and gonadotropins levels. In the last decade, the genetic bases of these disorders are being progressively uncovered. Here, we review the diseases associating ataxia and hypogonadism and the corresponding causative genes. In the first part of this study, we focus on clinical syndromes and genes (RNF216, STUB1, PNPLA6, AARS2, SIL1, SETX) predominantly associated with ataxia and hypogona...
Source: The Cerebellum - March 30, 2023 Category: Neurology Source Type: research
Horizontal Vestibulo-Ocular Reflex Deficit as a Biomarker for Clinical Disease Onset, Severity, and Progression of Machado-Joseph Disease
AbstractBecause of the crucial importance of finding a useful biomarker for further clinical trials in Machado-Joseph disease (MJD), and based on our previous studies, we aimed to evaluate whether the horizontal vestibulo-ocular reflex (VOR) gain could be a reliable neurophysiological biomarker for the clinical onset, severity, and progression of the disease. Thirty-five MJD patients, 11 pre-symptomatic genetically confirmed MJD subjects, and 20 healthy controls underwent a detailed epidemiological and clinical neurological examination including the Scale for the Assessment and Rating of Ataxia (SARA). Their VOR gain was m...
Source: The Cerebellum - March 28, 2023 Category: Neurology Source Type: research
Classic “PCH” Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia
This study aims to review imaging, clinical and genetic features and underlying etiologies of a cohort of children with PCH on imaging. We systematically reviewed brain images and clinical charts of 38 patients with radiologic evidence of PCH. Our cohort included 21 males and 17 females, with ages ranging between 8 days to 15 years. All individuals had pons and cerebellar vermis hypoplasia, and 63% had cerebellar hemisphere hypoplasia. Supratentorial anomalies were found in 71%. An underlying etiology was identified in 68% and included chromosomal (21%), monogenic (34%) and acquired (13%) causes. Only one p atient had p...
Source: The Cerebellum - March 27, 2023 Category: Neurology Source Type: research
Hyperbaric Oxygen Therapy Attenuated the Motor Coordination and Cognitive Impairment of Polyglutamine Spinocerebellar Ataxia SCA17 Mice
This study suggests HBOT is a potential alternative therapeutic treatment for SCA17. Accumulated findings have revealed the similarity in disease pathomechanisms and possible therapeutic strategies in polyQ diseases; therefore, HBOT could be an optional treatment as well as the other polyQ diseases. (Source: The Cerebellum)
Source: The Cerebellum - March 21, 2023 Category: Neurology Source Type: research
Scale for the Assessment and Rating of Ataxia (SARA): Development of a Training Tool and Certification Program
The objective of our study was to develop a training and certification tool for the SARA. SARA scores were recorded according to a standardized protocol and rated by three clinical experts in consensus. Four hundred thirty-eight videos of 67 patients were included in the SARA training tool. The tutorial section demonstrates a complete SARA examination on a healthy control. In the training section, users can compare their ratings to consensus ratings and access a video library covering the complete SARA range. The tool also includes a section that allows optional certification. The SARA training tool provides comprehensive ...
Source: The Cerebellum - March 15, 2023 Category: Neurology Source Type: research
Correction to: Autoimmune Cerebellar Ataxia Associated with Anti-Glutamate Receptor δ2 Antibodies: a Rare but Treatable Entity
(Source: The Cerebellum)
Source: The Cerebellum - March 13, 2023 Category: Neurology Source Type: research
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms
AbstractSpinocerebellar ataxia type 11 (SCA11) is a rare type of autosomal dominant cerebellar ataxia, mainly characterized by progressive cerebellar ataxia, abnormal eye signs and dysarthria. SCA11 is caused by variants inTTBK2, which encodes tau tubulin kinase 2 (TTBK2) protein. Only a few families with SCA11 were described to date, all harbouring small deletions or insertions that result in frameshifts and truncated TTBK2 proteins. In addition,TTBK2 missense variants were also reported but they were either benign or still needed functional validation to ascertain their pathogenic potential in SCA11. The mechanisms behin...
Source: The Cerebellum - March 9, 2023 Category: Neurology Source Type: research
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
AbstractThe Ataxia Global Initiative (AGI) is a worldwide multi-stakeholder research platform to systematically enhance trial-readiness in degenerative ataxias. The next-generation sequencing (NGS) working group of the AGI aims to improve methods, platforms, and international standards for ataxia NGS analysis and data sharing, ultimately allowing to increase the number of genetically ataxia patients amenable for natural history and treatment trials. Despite extensive implementation of NGS for ataxia patients in clinical and research settings, the diagnostic gap remains sizeable, as approximately 50% of patients with heredi...
Source: The Cerebellum - March 4, 2023 Category: Neurology Source Type: research
“I Do Not Know How You Feel and How I Feel About That”: Mentalizing Impairments in Machado-Joseph Disease
AbstractMachado Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disease. Mentalizing is the ability to think and understand the mental state of the other and of the self in terms of thoughts, feelings, and intentions. The aim of this study is to fill the gap in our understanding of mentalizing in MJD since there is currently very little and inconsistent research on MJD and mentalizing. A total of 18 Jews of Yemenite origin with clinically and genetically confirmed MJD, 5 pre-symptomatic MJD with a positive genetic test, and 17 Jews of Yemenite origin heal...
Source: The Cerebellum - February 28, 2023 Category: Neurology Source Type: research
Correction: Sepsis Impairs Purkinje Cell Functions and Motor Behaviors Through Microglia Activation
(Source: The Cerebellum)
Source: The Cerebellum - February 24, 2023 Category: Neurology Source Type: research
