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, 2024 - 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 …

Friedreich ataxia

M Pandolfo - Rosenberg's Molecular and Genetic Basis of …, 2025 - Elsevier
Friedreich ataxia (FRDA) is an autosomal-recessive disorder characterized by progressive
neurological and cardiac abnormalities. It predominantly affects individuals of European and …

Natural history of Friedreich ataxia: heterogeneity of neurologic progression and consequences for clinical trial design

C Rummey, LA Corben, M Delatycki, G Wilmot… - Neurology, 2022 - AAN Enterprises
Background and Objectives The understanding of the natural history of Friedreich ataxia
(FRDA) has improved considerably recently, but patterns of neurologic deterioration are not …

Assessment of ataxia rating scales and cerebellar functional tests: critique and recommendations

S Perez‐Lloret, B Van de Warrenburg… - Movement …, 2021 - Wiley Online Library
Background We assessed the clinimetric properties of ataxia rating scales and functional
tests, and made recommendations regarding their use. Methods A systematic literature …

Recessive cerebellar and afferent ataxias—clinical challenges and future directions

M Beaudin, M Manto, JD Schmahmann… - Nature Reviews …, 2022 - nature.com
Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

DR Lynch, A Goldsberry, C Rummey… - Annals of clinical …, 2024 - Wiley Online Library
Objective The natural history of Friedreich ataxia is being investigated in a multi‐center
longitudinal study designated the Friedreich ataxia Clinical Outcome Measures Study …

Brain structure and degeneration staging in Friedreich ataxia: magnetic resonance imaging volumetrics from the ENIGMA‐ataxia working group

IH Harding, S Chopra, F Arrigoni, S Boesch… - Annals of …, 2021 - Wiley Online Library
Objective Friedreich ataxia (FRDA) is an inherited neurological disease defined by
progressive movement incoordination. We undertook a comprehensive characterization of …

Predictors of loss of ambulation in Friedreich's ataxia

C Rummey, JM Farmer, DR Lynch - EClinicalMedicine, 2020 - thelancet.com
Background Friedreich's ataxia (FRDA) is a characterized by progressive loss of
coordination and balance leading to loss of ambulation (LoA) in nearly all affected …

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

K Reetz, I Dogan, RD Hilgers, P Giunti… - The Lancet …, 2021 - thelancet.com
Summary Background The European Friedreich's Ataxia Consortium for Translational
Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess …

New and emerging drug and gene therapies for Friedreich Ataxia

V Scott, MB Delatycki, G Tai, LA Corben - CNS drugs, 2024 - Springer
The life shortening nature of Friedreich Ataxia (FRDA) demands the search for therapies that
can delay, stop or reverse its relentless trajectory. This review provides a contemporary …