Quality of Life Changes Following the Onset of Cerebellar Ataxia: Symptoms and Concerns Self-reported by Ataxia Patients and Informants

Joyce, Michelle R.; Nadkarni, Prianca A.; Kronemer, Sharif I.; Margron, Michael J.; Slapik, Mitchell B.; Morgan, Owen P.; Rosenthal, Liana S.; Onyike, Chiadi U.; Marvel, Cherie L.

doi:10.1007/s12311-022-01393-5

Cited by 18 publications

(10 citation statements)

References 42 publications

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“…Inherited cerebellar ataxias (ICAs) belong to a large group of rare and complex neurodegenerative diseases affecting the cerebellum, but also frequently the spinal cord and the peripheral nerves. ICAs are clinically dominated by progressive cerebellar syndrome, that may lead to significant disability [ 1 ]. Most patterns of inheritance have been described in ICAs.…”

Section: Introductionmentioning

confidence: 99%

The inherited cerebellar ataxias: an update

et al. 2022

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This narrative review aims at providing an update on the management of inherited cerebellar ataxias (ICAs), describing main clinical entities, genetic analysis strategies and recent therapeutic developments. Initial approach facing a patient with cerebellar ataxia requires family medical history, physical examination, exclusions of acquired causes and genetic analysis, including Next-Generation Sequencing (NGS). To guide diagnosis, several algorithms and a new genetic nomenclature for recessive cerebellar ataxias have been proposed. The challenge of NGS analysis is the identification of causative variant, trio analysis being usually the most appropriate option. Public genomic databases as well as pathogenicity prediction software facilitate the interpretation of NGS results. We also report on key clinical points for the diagnosis of the main ICAs, including Friedreich ataxia, CANVAS, polyglutamine spinocerebellar ataxias, Fragile X-associated tremor/ataxia syndrome. Rarer forms should not be neglected because of diagnostic biomarkers availability, disease-modifying treatments, or associated susceptibility to malignancy. Diagnostic difficulties arise from allelic and phenotypic heterogeneity as well as from the possibility for one gene to be associated with both dominant and recessive inheritance. To complicate the phenotype, cerebellar cognitive affective syndrome can be associated with some subtypes of cerebellar ataxia. Lastly, we describe new therapeutic leads: antisense oligonucleotides approach in polyglutamine SCAs and viral gene therapy in Friedreich ataxia. This review provides support for diagnosis, genetic counseling and therapeutic management of ICAs in clinical practice. Supplementary Information The online version contains supplementary material available at 10.1007/s00415-022-11383-6.

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Section: Introductionmentioning

confidence: 99%

The inherited cerebellar ataxias: an update

et al. 2022

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“…Moreover, cerebellar damage does not often occur in isolation in patient studies 28,29 , making conclusions about direct region-specific effects difficult to draw. Finally, the life changes associated with cerebellar disease onset may themselves produce alterations in social behavior, affecting everyday life as well as compliance with pharmacological and rehabilitative treatments 30 .…”

Section: Modulating Mental State Recognition By Anodal Tdcs Over the ...mentioning

confidence: 99%

Modulating mental state recognition by anodal tDCS over the cerebellum

Clausi

Lupo

Funghi

et al. 2022

Sci Rep

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Increasing evidence from neuroimaging and clinical studies has demonstrated cerebellar involvement in social cognition components, including the mentalizing process. The aim of this study was to apply transcranial direct current stimulation (tDCS) to modulate cerebellar excitability to investigate the role the cerebellum plays in mental state recognition. Forty-eight healthy subjects were randomly assigned to different groups in which anodal, cathodal, or sham tDCS (2 mA for 20 min) was delivered centering the electrode on the vermis to stimulate the posterior portion of the cerebellum. The ability to attribute mental states to others was tested before and after tDCS using a digital version of the 'Reading the Mind in the Eyes test', which includes visual perceptive and motor stimuli as control conditions. Correct response and reaction times (RTs) were recorded. The results revealed a significant reduction in RTs between the baseline and post-stimulation sessions after cerebellar anodal tDCS only for mental state stimuli (Wilcoxon test p = 0.00055), whereas no significant effect was found in the cathodal or sham conditions or for visual perceptive and motor stimuli. Overall, our study suggests that cerebellar anodal tDCS might selectively improve mental state recognition and constitute an effective strategy to positively modulate the mentalizing process.

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“…Proprioception, the internal sense of limb and body position, involves the processing and integration of various sensory inputs from muscle, joints, and tendons by the cerebellum to guide motor movements. Cerebellar dysfunctions have a major impact on the quality of life due their impact on the ability to perform many activities of daily living [2]. There are many causes of damage to the cerebellum including lesions from ischemia, trauma and toxins, tumors, autoimmune and neurogenerative conditions.…”

Section: Introductionmentioning

confidence: 99%

Feasibility and Tolerability of Reaching Accuracy Assessment using Virtual Reality in Subacute and Chronic Cerebellar Stroke

Du,

Benavides,

Isenstein

et al. 2024

Preprint

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Objective To investigate the application of virtual reality (VR) with hand tracking in the rapid quantification of reaching accuracy at the bedside for patients with cerebellar stroke (CS). Introduction Dysmetria, the inability to accurately estimate distance in motor tasks, is a characteristic clinical feature of cerebellar injury. Even though subjective dysmetria can be quickly detected during the neurological examination with the finger-to-nose test, objective quantification of reaching accuracy for clinical assessment is still lacking. Emerging VR technology allows for the delivery of rich multisensory environmental stimuli with a high degree of control. Furthermore, recent improvements in the hand-tracking feature offer an opportunity to closely examine the speed, accuracy, and consistency of fine hand movements and proprioceptive function. Methods 30 individuals (10 CS patients and 20 age-matched neurologically healthy controls) performed a simple task that allowed us to measure reaching accuracy using a VR headset (Oculus Quest 2). During this task, the participant was asked to reach for a target placed along a horizontal sixty-degree arc. Once the fingertip passed through the arc, the target immediately extinguished. 50% of the trials displayed a visible, real-time rendering of the hand as the participant reached for the target (visible hand condition), while the remaining 50% only showed the target being extinguished (invisible hand condition). The invisible hand condition isolates proprioception-guided movements by removing the visibility of the participant’s hand. Reaching error was calculated as the difference in degrees between the location of the target, and where the fingertip contacted the arc. Results Both CS patients and age-matched controls displayed higher average reaching error and took longer to perform a reaching motion in the invisible hand condition than in the visible hand condition. Reaching error was higher in CS than in controls in the invisible hand condition but not in the visible hand condition. Average time taken to perform each trial was higher in CS than in controls in the invisible hand conditions but not in the visible hand condition. Discussion Reaching accuracy assessed by VR offers a non-invasive and rapid approach to quantifying fine motor functions in clinical settings. Furthermore, this technology enhances our understanding of proprioceptive function in patients with visuomotor disabilities by allowing the isolation of proprioception from vision. Future studies with larger cohorts and longitudinal designs will examine the quantitative changes in reaching accuracy after stroke and explore the long-term benefits of VR in functional recovery.

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Quality of Life Changes Following the Onset of Cerebellar Ataxia: Symptoms and Concerns Self-reported by Ataxia Patients and Informants

Cited by 18 publications

References 42 publications

The inherited cerebellar ataxias: an update

The inherited cerebellar ataxias: an update

Modulating mental state recognition by anodal tDCS over the cerebellum

Feasibility and Tolerability of Reaching Accuracy Assessment using Virtual Reality in Subacute and Chronic Cerebellar Stroke

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