ArticleAnnals of clinical and translational neurology2022
Wearable sensors detect impaired gait and coordination in LBSL during remote assessments.
Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Impact of Sleep Quality on Gait Variability: Pilot Cohort Study.JMIR aging · 2026Article
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Longitudinal Assessment Reveals Stage-Dependent Utility of Digital Motor Markers in SCA1.Movement disorders clinical practice · 2025Article
- Kinesiological Analysis Using Inertial Sensor Systems: Methodological Framework and Clinical Applications in Pathological Gait.Sensors (Basel, Switzerland) · 2025Article
- Wearable sensors in paediatric neurology.Developmental medicine and child neurology · 2025Review
- International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.Journal of inherited metabolic disease · 2024Article
- Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.Molecular genetics and metabolism · 2022Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare leukodystrophy with motor impairment due to biallelic mutations in DARS2, which encodes mitochondrial aspartyl tRNA synthetase. Progressive ataxia is the primary feature.
objectiveThe study objective is to determine the feasibility of remotely collecting quantitative gait and balance measures in LBSL.
methodsThe study design uses wearable accelerometers and the scale for the assessment and rating of ataxia (SARA) scale to assess gait and postural sway in LBSL and control participants' homes through video conferencing.
resultsLateral step variability (LSV), which indicates stride variability, and elevation of the step at mid-swing are increased for LBSL patients during brief walking tests. During stance with the eyes closed, LBSL participants show rapid accelerations and decelerations of body movement covering a large sway area and path. Both the LSV and sway area during stance with the feet together and eyes closed correlate strongly with the SARA.
conclusionsWearable accelerometers are valid and sensitive for detecting ataxia in LBSL patients during remote assessments. The finding of large increases in the sway area during stance with the eyes closed is intriguing since dorsal column dysfunction is universally seen in LBSL. This approach can be applied to related rare diseases that feature ataxia.
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Registered trials
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