Characterising the Long-Term Language Impairments of Children Following Cerebellar Tumour Surgery by Extracting Psycholinguistic Properties from Spontaneous Language
This study is the first to try to identify these deficits for four levels of language processing in cerebellar tumour survivors. The spontaneous language of twelve patients who underwent cerebellar tumour surgery (age range 3 –24 years) was compared against his or her controls using individual case statistics. A distinction was made between patients who experienced postoperative cerebellar mutism syndrome (pCMS) and those who did not. Time since surgery ranged between 11 months and 12;3 years. In order to identify t he impaired language processing levels at each processing level (i.e., lexical, semantic, phonological ...
Source: The Cerebellum - May 15, 2023 Category: Neurology Source Type: research
Correction to: A Systematic Review of Direct Outputs from the Cerebellum to the Brainstem and Diencephalon in Mammals
(Source: The Cerebellum)
Source: The Cerebellum - May 12, 2023 Category: Neurology Source Type: research
The Development of a New Patient-Reported Outcome Measure in Recessive Ataxias: The Person-Reported Ataxia Impact Scale
AbstractAutosomal recessive cerebellar ataxias (ARCAs) are inherited neurological disorders that can affect both the central and peripheral nervous systems. To assess the effects of interventions according to the perception of people affected, patient-reported outcome measures (PROMs) must be available. This paper presents the development process of the Person-Reported Ataxia Impact Scale (PRAIS), a new PROM in recessive ataxias, and the documentation of its content validity, interpretability, and construct validity (structural and discriminant). The development followed the PROMIS framework and the Food and Drug Administr...
Source: The Cerebellum - May 10, 2023 Category: Neurology Source Type: research
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism
AbstractThe association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of disorders, caused by different genetic mutations often associated with a recessive inheritance. In these patients, magnetic resonance imaging (MRI) plays a pivotal role in the diagnostic workflow, with a variable involvement of the cerebellar cortex, alone or in combination with other brain structures. Neuroimaging involvement of the pituitary gland is also variable. Here, we provide an overview of the main clinical and conventional brain and pituitary gland MRI imaging findings of the most common genetic mutations associated w...
Source: The Cerebellum - May 8, 2023 Category: Neurology Source Type: research
Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment
AbstractCerebellar neurodegeneration
is a classical feature of ataxia telangiectasia (A-T), an autosomal recessive condition caused by loss-of-function mutation of theATM gene, a gene with multiple regulatory functions. The increased vulnerability of cerebellar neurones to degeneration compared to cerebral neuronal populations in individuals with ataxia telangiectasia implies a specific importance of intactATM function in the cerebellum. We hypothesised that there would be elevated transcription ofATM in the cerebellar cortex relative toATM expression in other grey matter regions during neurodevelopment in individuals w...
Source: The Cerebellum - April 29, 2023 Category: Neurology Source Type: research
The Care and Management of Children and Young People with Ataxia Telangiectasia Provided by Nurses and Allied Health Professionals: a Scoping Review
AbstractAtaxia telangiectasia (A-T) is a rare, multisystem progressive condition that typically presents in early childhood. In the absence of cure, people with A-T require coordinated multidisciplinary care to manage their complex array of needs and to minimize the disease burden. Although symptom management has proven benefits for this population, including improved quality of life and reduced complications, there is a need for guidance specific to the nursing and allied healthcare teams who provide care within the community. A scoping review, adopting the Joanna Briggs Institute methodology, was undertaken. It aimed to ...
Source: The Cerebellum - April 29, 2023 Category: Neurology Source Type: research
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers
AbstractOculomotor deficits are common in hereditary ataxia, but disproportionally neglected in clinical ataxia scales and as outcome measures for interventional trials. Quantitative assessment of oculomotor function has become increasingly available and thus applicable in multicenter trials and offers the opportunity to capture severity and progression of oculomotor impairment in a sensitive and reliable manner. In this consensus paper of the Ataxia Global Initiative Working Group On Digital Oculomotor Biomarkers, based on a systematic literature review, we propose harmonized methodology and measurement parameters for the...
Source: The Cerebellum - April 28, 2023 Category: Neurology Source Type: research
Temporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration
AbstractAtaxia and impaired motor learning are both fundamental features in diseases affecting the cerebellum. However, it remains unclarified whether motor learning is impaired only when ataxia clearly manifests, nor it is known whether the progression of ataxia, the speed of which often varies among patients with the same disease, can be monitored by examining motor learning. We evaluated motor learning and ataxia at intervals of several months in 40 patients with degenerative conditions [i.e., multiple system atrophy (MSA), Machado –Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3), SCA6, and SCA31]. Motor lea...
Source: The Cerebellum - April 28, 2023 Category: Neurology Source Type: research
Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study
This study aimed to document the natural history of ARSACS over a 4-year period in terms of upper and lower limb functions, balance, walking capacity, performance in daily living activities, and disease severity. Forty participants were assessed on three occasions over 4 years. Participant performance was reported in raw data as well as in percentage from reference values to consider the normal aging process. Severe balance and walking capacity impairments were found, with a significant performance decrease over the 4 years. Balance reached a floor score of around 6 points on the Berg Balance Scale for participants aged>...
Source: The Cerebellum - April 27, 2023 Category: Neurology Source Type: research
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature
AbstractDifferent pathogenic variants in theDNA polymerase-gamma2 (POLG2) gene cause a rare, clinically heterogeneous mitochondrial disease. We detected a novelPOLG2 variant (c.1270 T > C, p.Ser424Pro) in a family with adult-onset cerebellar ataxia and progressive ophthalmoplegia. We demonstrated altered mitochondrial integrity in patients’ fibroblast cultures but no changes of the mitochondrial DNA were found when compared to controls. We consider this novel, segregatingPOLG2 variant as disease-causing in this family. Moreover, we systematically screened the literature forPOLG2-linked phenotypes and re-evaluat...
Source: The Cerebellum - April 22, 2023 Category: Neurology Source Type: research
Reduction of Microvessel Number and Length in the Cerebellum of Purkinje Cell Degeneration Mice
In this study, we compared the vascularity of the individual cerebellar components of 3-month-old wild-type mice (n = 8) and Purkinje cell degeneration (pcd) mutant mice, which represent a model of hereditary cerebellar degeneration (n = 8). Systematic random samples of tissue sections were processed, and laminin was immunostained to visualize microvessels. A computer-assisted stereology system was used to quantify microvessel parameters including total number, total length, and associated densities in cerebellar layers. Our results in pcd mice revealed a 45% (p < 0.01) reduction in the total volume of the ...
Source: The Cerebellum - April 18, 2023 Category: Neurology Source Type: research
Uncertainty of Vowel Predictions as a Digital Biomarker for Ataxic Dysarthria
AbstractDysarthria is a common manifestation across cerebellar ataxias leading to impairments in communication, reduced social connections, and decreased quality of life. While dysarthria symptoms may be present in other neurological conditions, ataxic dysarthria is a perceptually distinct motor speech disorder, with the most prominent characteristics being articulation and prosody abnormalities along with distorted vowels. We hypothesized that uncertainty of vowel predictions by an automatic speech recognition system can capture speech changes present in cerebellar ataxia. Speech of participants with ataxia (N=61) and hea...
Source: The Cerebellum - April 11, 2023 Category: Neurology Source Type: research
Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia
AbstractAtaxia-Telangiectasia
(A-T) is an autosomal recessive neurodegenerative disease associated with cerebellar ataxia and extrapyramidal features. A-T has a complex and diverse phenotype with varying rates of disease progression. The development of robust natural history studies and therapeutic trials relies on the accurate recording of phenotype using relevant and validated severity of illness indexes. We compared the commonly used Scale for the Assessment and Rating of Ataxia (SARA) and the disease-specific A-T Neurological Examination Scale Toolkit (A-T NEST), in our adult A-T cohort. We found a strong correlati...
Source: The Cerebellum - April 10, 2023 Category: Neurology Source Type: research
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
