Autosomal dominant cerebellar ataxias: new genes and progress towards treatments

G Coarelli, M Coutelier, A Durr - The Lancet Neurology, 2023 - thelancet.com
Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …

Quantitative gait and balance outcomes for ataxia trials: consensus recommendations by the ataxia global initiative working group on digital-motor biomarkers

W Ilg, S Milne, T Schmitz-Hübsch, L Alcock, L Beichert… - The Cerebellum, 2023 - Springer
With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid,
finely granulated, digital health measures are highly warranted to augment clinical and …

A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia

B Kadirvelu, C Gavriel, S Nageshwaran, JPK Chan… - Nature medicine, 2023 - nature.com
Friedreichʼs ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its
downregulation and progressively impaired cardiac and neurological function. Current gold …

Development and validation of a patient‐reported outcome measure of ataxia

JD Schmahmann, S Pierce, J MacMore… - Movement …, 2021 - Wiley Online Library
Background Assessment of cerebellar ataxia has been confined to rating scales, gait
laboratories, and wearable sensors agnostic to patient input. Objectives The objective of this …

Gait variability in spinocerebellar ataxia assessed using wearable inertial sensors

VV Shah, R Rodriguez‐Labrada, FB Horak… - Movement …, 2021 - Wiley Online Library
Background Quantitative assessment of severity of ataxia‐specific gait impairments from
wearable technology could provide sensitive performance outcome measures with high face …

Digital gait biomarkers allow to capture 1‐year longitudinal change in spinocerebellar ataxia type 3

W Ilg, B Müller, J Faber, J van Gaalen… - Movement …, 2022 - Wiley Online Library
Measures of step variability and body sway during gait have shown to correlate with clinical
ataxia severity in several cross‐sectional studies. However, to serve as a valid progression …

Gait analysis in neurorehabilitation: from research to clinical practice

M Bonanno, AM De Nunzio, A Quartarone, A Militi… - Bioengineering, 2023 - mdpi.com
When brain damage occurs, gait and balance are often impaired. Evaluation of the gait
cycle, therefore, has a pivotal role during the rehabilitation path of subjects who suffer from …

Prodromal spinocerebellar ataxia type 2 subjects have quantifiable gait and postural sway deficits

L Velázquez‐Pérez, R Rodriguez‐Labrada… - Movement …, 2021 - Wiley Online Library
Background The search for valid preclinical biomarkers of cerebellar dysfunction is a key
research goal for the upcoming era of early interventional approaches in spinocerebellar …

Real‐life turning movements capture subtle longitudinal and Preataxic changes in cerebellar ataxia

A Thierfelder, J Seemann, N John… - Movement …, 2022 - Wiley Online Library
Background Clinical and regulatory acceptance of upcoming molecular treatments in
degenerative ataxias might greatly benefit from ecologically valid endpoints that capture …

Consensus paper: ataxic gait

P Cabaraux, SK Agrawal, H Cai, RS Calabro, C Casali… - The Cerebellum, 2023 - Springer
The aim of this consensus paper is to discuss the roles of the cerebellum in human gait, as
well as its assessment and therapy. Cerebellar vermis is critical for postural control. The …