Otoneurological findings prevalent in hereditary ataxias

Zeigelboim, Bianca Simone; Teive, Hélio A.G.; Santos, Geslaine Janaína Barbosa; Severiano, Maria Izabel Rodrigues; Fonseca, Vinícius Ribas; Faryniuk, João Henrique; Marques, Jair Mendes

doi:10.1590/0004-282x20180001

Cited by 4 publications

(1 citation statement)

References 20 publications

(22 reference statements)

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“…The cerebellum and its medial zone, while promoting the contracture of the limbic axial and proximal muscles, primarily maintain balance and stance. 18 Regarding the vestibular testing in this study, vestibular dysfunction (VD) occurred in 64.8% of participants. 35.7% featured peripheral VD and 28.6% featured central VD.…”

Section: Discussionmentioning

confidence: 75%

Evaluation of Quality of Life After Use the Virtual Reality in Patients with Neurodegenerative Disease

Malisky,

Cavalcante-Leão,

Severiano

et al. 2024

Int Arch Otorhinolaryngol

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Introduction Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases. Objective To evaluate the living standard of patients with SCA, by applying the Vestibular Disorders Activities of Daily Living Scale (VADL) and Activitiesspecific Balance Confidence Scale (ABC) questionnaires. Methods An uncontrolled clinical trial study was conducted with 28 patients who underwent anamnesis, ENT evaluation, and vestibular assessment and the application of questionnaires VADL and ABC before and after rehabilitation with virtual reality. Results The vestibular exam was altered in 64.3% of the cases. The result between the correlation of the VADL and ABC questionnaires showed significant results in all cases (p < 0.005). The correlation between the ages and disease length with the VADL and ABC questionnaires was significant in the T3 assessment (p = 0.015). The correlation between the disease length and the VADL questionnaire was significant in all cases (p < 0.005). The comparison of the vestibular rehabilitation result (T1 to T2) showed a significant difference for all the applied games, except for the ski slalom. The comparison of the vestibular rehabilitation result (T1 to T3) showed significant difference for all the applied games (p < 0.005) (1st assessment before the start of rehabilitation designated T1, after 10 rehabilitation sessions, considered T2 and, at the end of 20 rehabilitation sessions, called T3). Conclusion We can point out a direct improvement in the living standard, reflected by the reduction of falls, better balance, and march, contributing to a higher self-confidence in patients in daily activities.

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Section: Discussionmentioning

confidence: 75%

Evaluation of Quality of Life After Use the Virtual Reality in Patients with Neurodegenerative Disease

Malisky,

Cavalcante-Leão,

Severiano

et al. 2024

Int Arch Otorhinolaryngol

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Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach

et al. 2019

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Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes

et al. 2023

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Characterizing bedside oculomotor deficits is a critical factor in defining the clinical presentation of hereditary ataxias. Quantitative assessments are increasingly available and have significant advantages, including comparability over time, reduced examiner dependency, and sensitivity to subtle changes. To delineate the potential of quantitative oculomotor assessments as digital-motor outcome measures for clinical trials in ataxia, we searched MEDLINE for articles reporting on quantitative eye movement recordings in genetically confirmed or suspected hereditary ataxias, asking which paradigms are most promising for capturing disease progression and treatment response. Eighty-nine manuscripts identified reported on 1541 patients, including spinocerebellar ataxias (SCA2, n = 421), SCA3 (n = 268), SCA6 (n = 117), other SCAs (n = 97), Friedreich ataxia (FRDA, n = 178), Niemann-Pick disease type C (NPC, n = 57), and ataxia-telangiectasia (n = 85) as largest cohorts. Whereas most studies reported discriminatory power of oculomotor assessments in diagnostics, few explored their value for monitoring genotype-specific disease progression (n = 2; SCA2) or treatment response (n = 8; SCA2, FRDA, NPC, ataxia-telangiectasia, episodic-ataxia 4). Oculomotor parameters correlated with disease severity measures including clinical scores (n = 18 studies (SARA: n = 9)), chronological measures (e.g., age, disease duration, time-to-symptom onset; n = 17), genetic stratification (n = 9), and imaging measures of atrophy (n = 5). Recurrent correlations across many ataxias (SCA2/3/17, FRDA, NPC) suggest saccadic eye movements as potentially generic quantitative oculomotor outcome. Recommendation of other paradigms was limited by the scarcity of cross-validating correlations, except saccadic intrusions (FRDA), pursuit eye movements (SCA17), and quantitative head-impulse testing (SCA3/6). This work aids in understanding the current knowledge of quantitative oculomotor parameters in hereditary ataxias, and identifies gaps for validation as potential trial outcome measures in specific ataxia genotypes.

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Otoneurological findings prevalent in hereditary ataxias

Cited by 4 publications

References 20 publications

Evaluation of Quality of Life After Use the Virtual Reality in Patients with Neurodegenerative Disease

Evaluation of Quality of Life After Use the Virtual Reality in Patients with Neurodegenerative Disease

Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach

Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes

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