The Effect of Nucleo-Olivary Stimulation on Climbing Fiber EPSPs in Purkinje Cells
AbstractClimbing fibers, connecting the inferior olive and Purkinje cells, form the nervous system's strongest neural connection. These fibers activate after critical events like motor errors or anticipation of rewards, leading to bursts of excitatory postsynaptic potentials (EPSPs) in Purkinje cells. The number of EPSPs is a crucial variable when the brain is learning a new motor skill. Yet, we do not know what determines the number of EPSPs. Here, we measured the effect of nucleo-olivary stimulation on periorbital elicited climbing fiber responses through in-vivo intracellular Purkinje cell recordings in decerebrated fer...
Source: The Cerebellum - March 11, 2024 Category: Neurology Source Type: research
Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)
AbstractThe progression of multisystem neurodegenerative diseases such as ataxia significantly impacts speech and communication, necessitating adaptive clinical care strategies. With the deterioration of speech, Alternative and Augmentative Communication (AAC) can play an ever increasing role in daily life for individuals with ataxia. This review describes the spectrum of AAC resources available, ranging from unaided gestures and sign language to high-tech solutions like speech-generating devices (SGDs) and eye-tracking technology. Despite the availability of various AAC tools, their efficacy is often compromised by the ph...
Source: The Cerebellum - March 7, 2024 Category: Neurology Source Type: research
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
(Source: The Cerebellum)
Source: The Cerebellum - March 6, 2024 Category: Neurology Source Type: research
Disentangling Cerebellar and Parietal Contributions to Gait and Body Schema: A Repetitive Transcranial Magnetic Stimulation Study
This study aimed to identify distinguishing motor and cognitive features to disentangle PPC and cerebellar involvement in two sensorimotor-related functions: gait and body schema representation. Thirty healthy volunteers were enrolled and randomly assigned to PPC or cerebellar stimulation. Sham stimulation and 1 Â Hz-repetitive-Transcranial-Magnetic-Stimulation were delivered over P3 or cerebellum before a balance and a walking distance estimation task. Each trial was repeated with eyes open (EO) and closed (EC). Eight inertial measurement units recorded spatiotemporal and kinematic variables of gait. Insta bility increase...
Source: The Cerebellum - March 5, 2024 Category: Neurology Source Type: research
Cerebello-Hippocampal Interactions in the Human Brain: A New Pathway for Insights Into Aging
AbstractThe cerebellum is recognized as being important for optimal behavioral performance across task domains, including motor function, cognition, and affect. Decades of work have highlighted cerebello-thalamo-cortical circuits, from both structural and functional perspectives. However, these circuits of interest have been primarily (though not exclusively) focused on targets in the cerebral cortex. In addition to these cortical connections, the circuit linking the cerebellum and hippocampus is of particular interest. Recently, there has been an increased interest in this circuit, thanks in large part to novel findings i...
Source: The Cerebellum - March 4, 2024 Category: Neurology Source Type: research
Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype
The objective of the study is to explore the relationship between sleep microstructure and brain atrophy in SCA2 and its role in the clinical phenotype. Fourteen SCA2 mutation carriers (7 pre-manifest and 7 manifest subjects) underwent polysomnographic, structural MRI, and clinical assessments. Particularly, markers of REM and non-REM sleep microstructure, measures of cerebellar and brainstem atrophy, and clinical scores were analyzed through correlation and mediation analyses. The sleep spindle activity exhibited a negative correlation with the number of trials required to complete the verbal memory test (VMT), and a posi...
Source: The Cerebellum - March 4, 2024 Category: Neurology Source Type: research
CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias
AbstractThe complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but also in the variety of different genetic conditions that can determine sometimes similar and overlapping clinical findings. In this light, Magnetic Resonance Imaging (MRI) plays a key role in the evaluation of these conditions, being a fundamental diagnostic tool needed not only to exclude other causes determining the observed clinical phenotype, but also to proper guide to an adequate genetic testing. Here, we propose an MRI-based diagnostic algorithm named CHARON (Characterization of Hereditary Ataxias Relying On Neuro...
Source: The Cerebellum - March 4, 2024 Category: Neurology Source Type: research
Quantification of Solid Embryonic Cerebellar Graft Volume in a Degenerative Ataxia Model
In this study, we examined the volume and structure of solid embryonic cerebellar grafts in adult Lurcher mice, a model of olivocerebellar degeneration, and their healthy littermates. Grafts taken from enhanced green fluorescent protein (EGFP)-positive embryos were injected into the cerebellum of host mice. Two or six months later, the brains were examined histologically. The grafts were identified according to the EGFP fluorescence in frozen sections and their volumes were estimated using the Cavalieri principle. For gross histological evaluation, graft-containing slices were processed using Nissl and hematoxylin –eosin...
Source: The Cerebellum - March 2, 2024 Category: Neurology Source Type: research
Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures
AbstractCOQ8A plays an important role in the biosynthesis of coenzyme Q10 (CoQ10), and variations inCOQ8A gene are associated with primary CoQ10 deficiency-4 (COQ10D4), also known as COQ8A-ataxia. The current understanding of the association between the specific variant type, the severity of CoQ10 deficiency, and the degree of oxidative stress in individuals with primary CoQ10 deficiencies remains uncertain. Here we provide a comprehensive analysis of the clinical and genetic characteristics of an 18-year-old patient with COQ8A-ataxia, who exhibited novel compound heterozygous variants (c.1904_1906del and c.637C  > â€...
Source: The Cerebellum - March 2, 2024 Category: Neurology Source Type: research
Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup
This report describes an adult case of Poretti –Boltshauser syndrome (PTBHS) and with novel variants ofLAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del inLAMA1 (NM_00555...
Source: The Cerebellum - February 29, 2024 Category: Neurology Source Type: research
Correction to: A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia
(Source: The Cerebellum)
Source: The Cerebellum - February 24, 2024 Category: Neurology Source Type: research
The Role of the Human Cerebellum for Learning from and Processing of External Feedback in Non-Motor Learning: A Systematic Review
AbstractThis review aimed to systematically identify and comprehensively review the role of the cerebellum in performance monitoring, focusing on learning from and on processing of external feedback in non-motor learning. While 1078 articles were screened for eligibility, ultimately 36 studies were included in which external feedback was delivered in cognitive tasks and which referenced the cerebellum. These included studies in patient populations with cerebellar damage and studies in healthy subjects applying neuroimaging. Learning performance in patients with different cerebellar diseases was heterogeneous, with only abo...
Source: The Cerebellum - February 20, 2024 Category: Neurology Source Type: research
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration
In this study, we aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 and SCA6 as well as multiple system atrophy of cerebellar type (MSA-C). Our cross-sectional data set comprised mutation carriers of SCA1 (N=12), SCA3 (N=62), SCA6 (N=14), as well as MSA-C patients (N=16). Cerebellar volumes were obtained from T1-weighted magnetic resonance images. To compare the different atrophy patterns, we performed a z-transformation and plotted the intercept of each patient group ’s model at the mean of 7 years of ataxia duration as well as at the mean ataxia severity of 14 point...
Source: The Cerebellum - February 16, 2024 Category: Neurology Source Type: research
