Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia

Movement Disorders, Год журнала: 2025, Номер unknown

Опубликована: Март 4, 2025

ABSTRACT Background The Patient‐Reported Outcome Measure of Ataxia (PROM‐Ataxia) has been validated cross‐sectionally but not longitudinally. Objective We aimed to validate PROM‐Ataxia as a measure patient experience disease over time, examine overall and domain‐specific progression, test convergent validity with other clinical outcome assessments (COAs). Methods derived data from 176 patients spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, or 10 in the Clinical Research Consortium for Study Cerebellar at baseline 1 year. classified patients' severity stage (“severity”) according Friedreich's Rating Scale Functional Staging into mild , moderate severe subgroups. Analyses entire cohort by subgroup included internal consistency, sensitivity severity, predictive modeling score changes, correlations COAs: Brief Scale, Assessment Ataxia, Fatigue Severity Cognitive Affective Syndrome scale, EuroQol 5‐Dimension, responsiveness progression. Results exhibited high consistency correlated COAs. Scores demonstrated evolving experience. Progression was sigmoidal, greatest change patients. Compared COAs, captured most change. Mental features worsened fastest patients, physical activities daily living Conclusion is more sensitive than captures evolution year, reveals Studies larger cohorts different diagnoses longer periods may provide insights further enhance care research. © 2025 International Parkinson Movement Disorder Society.

Язык: Английский

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Digital Gait Measures Capture 1‐Year Progression in Early‐Stage Spinocerebellar Ataxia Type 2

Movement Disorders, Год журнала: 2024, Номер 39(5), С. 788 - 797

Опубликована: Фев. 28, 2024

Abstract Background With disease‐modifying drugs in reach for cerebellar ataxias, fine‐grained digital health measures are highly warranted to complement clinical and patient‐reported outcome upcoming treatment trials monitoring. These need demonstrate sensitivity capture change, particular the early stages of disease. Objective Our aim is unravel gait sensitive longitudinal change the—particularly trial‐relevant—early stage spinocerebellar ataxia type 2 (SCA2). Methods We performed a multicenter study with combined cross‐sectional 1‐year interval analysis early‐stage SCA2 participants (n = 23, including nine pre‐ataxic expansion carriers; median, ATXN2 CAG repeat 38 ± 2; Scale Assessment Rating Ataxia [SARA] score 4.8 4.3). Gait was assessed using three wearable motion sensors during 2‐minute walk, analyses focused on spatio‐temporal variability that have shown severity (eg, lateral step deviation). Results found significant changes between baseline follow‐up large effect sizes (lateral deviation P 0.0001, size r prb 0.78), whereas SARA showed no ( 0.67). Sample estimation indicates required cohort n 43 detect 50% reduction natural progression. Test–retest reliability minimal detectable confirm accuracy detecting identified change. Conclusions by can progression within just 1 year—in contrast outcome. Lateral represents promising measure interventional trials, particularly ataxia. © 2024 The Authors. Movement Disorders published Wiley Periodicals LLC behalf International Parkinson Disorder Society.

Язык: Английский

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Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity

Frontiers in Pharmacology, Год журнала: 2024, Номер 15

Опубликована: Март 19, 2024

Quantitative measurement of physical activity may complement neurological evaluation and provide valuable information on patients’ daily life. We evaluated longitudinal changes in patients with Friedreich ataxia (FRDA) using remote monitoring wearable sensors. performed an observational study 26 adult FRDA 13 age-sex matched healthy controls (CTR). Participants were asked to wear two sensors, at non-dominant wrist waist, for 7 days during waking hours. Evaluations baseline 1-year follow-up. analysed the percentage time spent sedentary or activities, Vector Magnitude 3 axes (VM3), average number steps/min. Study participants also clinical scales functional tests upper limbs dexterity walking capability. Baseline data showed that had overall reduced level as compared CTR. Accelerometer-based measures highly correlated disease duration FRDA. Significantly from l-year follow-up observed following measures: (i) VM3; (ii) light activity, (iii) Moderate-Vigorous Physical Activity (MVPA). Reduction corresponded worsening gait score Scale Assessment Rating Ataxia. Real-life is feasible well tolerated by patients. can quantify progression over 1 year, providing objective about patient’s motor activities supporting usefulness these complementary outcome measure interventional trials.

Язык: Английский

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Step Width Haptic Feedback for Gait Stability in Spinocerebellar Ataxia: Preliminary Results

Movement Disorders, Год журнала: 2025, Номер unknown

Опубликована: Янв. 13, 2025

Abstract Background Wider step width and lower step‐to‐step variability are linked to improved gait stability reduced fall risk. It is unclear if patients with spinocerebellar ataxia (SCA) can learn adjust these aspects of reduce Objectives The aims were examine the possibility using wearable haptic biofeedback enhance risk in individuals SCA. Methods Thirteen people SCA type 3 performed training (single session) real‐time feedback. Results Step increased post‐training (19.3 cm, interquartile range [IQR] 16.3–20.2 cm) at retention (16.6 IQR 16.2–21.1 cm), compared baseline (11.0 5.2–15.2 cm; P < 0.001). decreased during (19.7%, 17.4%–26.2%) (22.3%, 18.6%–30.2%), (44.5%, 28.5%–71.2%; Crossover steps, another mark instability, after ( 0.031). Conclusions These pilot results suggest that use a novel, system improve their stability. © 2025 International Parkinson Movement Disorder Society.

Язык: Английский

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Gait Video–Based Prediction of Severity of Cerebellar Ataxia Using Deep Neural Networks

Movement Disorders, Год журнала: 2025, Номер unknown

Опубликована: Янв. 22, 2025

Abstract Background Pose estimation algorithms applied to two‐dimensional videos evaluate gait disturbances; however, a few studies have used this method ataxic gait. Objective The aim was assess whether pose algorithm can predict the severity of cerebellar ataxia by applying it videos. Methods We video‐recorded 66 patients with degenerative diseases performing timed up‐and‐go test. Key points from extracted were input into deep learning model Scale for Assessment and Rating Ataxia (SARA) score. also evaluated video segments that focused on severity. Results achieved root‐mean‐square error 2.30 coefficient determination 0.79 in predicting SARA It primarily standing, turning, body sway Conclusions This study demonstrated may capture characteristics key‐point data has potential scores. © 2025 International Parkinson Movement Disorder Society.

Язык: Английский

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A framework to standardize gait study protocols in Parkinson's disease

Journal of Parkinson s Disease, Год журнала: 2025, Номер unknown

Опубликована: Фев. 25, 2025

Background Research over the past twenty years has shown that gait outcomes have a high sensitivity for diagnosing Parkinson's disease (PD), detecting effects of interventions, and monitoring progression, even in early disease. However, lack standardization protocols reported measures is impeding data aggregation across study sites contributes to heterogeneity results, thus limiting adoption clinical trials. Objective To provide recommendations minimum set be adopted projects evaluating people with PD enhance field. Methods The Gait Advisors Leading Outcomes (GALOP) committee an advisory MJFF. Based on five-step approach, GALOP generated standardizing assess quantitative measures, following expert consensus best practices. Results Built literature amongst experts, we recommend meta-data accompany assessment protocol performed at comfortable speed. Suggestions challenging testing are provided. Conclusions support empower scientific community, collect share gathered from using open repository. Standardizing potential accelerating research trials, harmonizing sites, fostering collaborations, long run, improving patient care quality life.

Язык: Английский

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Lurcher Mouse as a Model of Cerebellar Syndromes

The Cerebellum, Год журнала: 2025, Номер 24(2)

Опубликована: Фев. 28, 2025

Abstract Cerebellar extinction lesions can manifest themselves with cerebellar motor and cognitive affective syndromes. For investigation of the functions cerebellum pathogenesis diseases, particularly hereditary neurodegenerative ataxias, various mutant mice are used. The Lurcher mouse is a model selective olivocerebellar degeneration early onset rapid progress. These show both deficits as well behavioral changes i.e., pathological phenotype in functional domains affected patients. Therefore, might be considered tool to investigate mechanisms impairments caused by degenerative diseases. There are, however, limitations due particular features process lack possibilities examine some processes mice. main advantage would expected absence significant neuropathologies outside system that modify complex less models. However, detailed examinations further thorough validation needed verify this assumption.

Язык: Английский

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Test-Retest Reliability and Minimal Detectable Changes for Wearable Sensor-Derived Gait Stability, Symmetry, and Smoothness in Individuals with Severe Traumatic Brain Injury

Sensors, Год журнала: 2025, Номер 25(6), С. 1764 - 1764

Опубликована: Март 12, 2025

Severe traumatic brain injury (sTBI) often results in significant impairments gait stability, symmetry, and smoothness. Inertial measurement units (IMUs) have emerged as powerful tools to quantify these aspects of gait, but their clinometric properties sTBI populations remain underexplored. This study aimed assess the test-retest reliability minimal detectable change (MDC) three IMU-derived indices—normalized Root Mean Square (nRMS), improved Harmonic Ratio (iHR), Log Dimensionless Jerk (LDLJ)—during a 10 m walking test for survivors. Forty-nine participants with completed test, IMUs placed on key body segments capture accelerations angular velocities. Test-retest analyses revealed moderate excellent nRMS iHR anteroposterior (ICC: 0.78–0.95 0.94, respectively) craniocaudal directions 0.95), small MDC values, supporting clinical applicability (MDC: 0.04–0.3). However, mediolateral direction exhibited greater variability 0.80; MDC: 9.74), highlighting potential sensitivity challenges. LDLJ metrics showed 0.57–0.77) higher values (0.55–0.75), suggesting need further validation. These findings underscore specific indices detecting meaningful changes survivors, paving way refined assessments monitoring rehabilitation process Future research should explore indices’ responsiveness interventions correlation functional outcomes.

Язык: Английский

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Smartphone Application for Spastic Ataxias Cross-Sectional Validation of a Newly Developed Smartphone App for Remote Monitoring in Spastic Ataxias

The Cerebellum, Год журнала: 2025, Номер 24(3)

Опубликована: Март 24, 2025

Abstract Effective trial-planning in Spastic ataxias (SPAX) is impeded by the absence of validated outcome measures for detecting longitudinal changes. Digital show promise, demonstrating sensitivity to disease severity changes ataxia and strong correlations with clinical scales. The objective this study was develop a smartphone application SPAX (SPAX-app) obtain valid digital use trials. app contains four tasks assessing gait, standing balance (stance), finger hand movements. We carried out validation 22 patients 10 controls. Subjects performed three times during one visit. In parallel, we Ambulatory Parkinson’s Disease Monitoring (APDM) sensor recordings, Q-motor upper limb assessment, Scale Assessment Rating Ataxia (SARA). Significant were found between SPAX-app APDM or step time ( r = 0.91), all stance 0.51–0.87) duration alternation 0.64). No significant variability (e.g. standard deviation time). All SPAX-app, except stance, can discriminate from controls moderate high test-retest reliability (ICC 0.67–0.97). SARA 0.70), inter-onset interval tapping 0.57), 0.65). task did not SARA. With present set potential Longitudinal studies are needed evaluate whether these track progression.

Язык: Английский

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Effect of a Home‐Base Core Stability Exercises in Hereditary Ataxia. A Randomized Controlled Trial. A Pilot Randomized Controlled Trial

Movement Disorders Clinical Practice, Год журнала: 2024, Номер 11(6), С. 666 - 675

Опубликована: Апрель 2, 2024

Core stability exercises (CSE) have been shown to be effective in improving trunk function several neurological diseases, but the evidence is scarce on Hereditary Ataxias (HA).

Язык: Английский

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