Spinocerebellar ataxia
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …
Spinocerebellar ataxias: prospects and challenges for therapy development
The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
neurodegenerative disorders that present principally with progressive ataxia. Within the past …
Quantitative gait and balance outcomes for ataxia trials: consensus recommendations by the ataxia global initiative working group on digital-motor biomarkers
With disease-modifying drugs on the horizon for degenerative ataxias, ecologically valid,
finely granulated, digital health measures are highly warranted to augment clinical and …
finely granulated, digital health measures are highly warranted to augment clinical and …
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
Gait variability in spinocerebellar ataxia assessed using wearable inertial sensors
Background Quantitative assessment of severity of ataxia‐specific gait impairments from
wearable technology could provide sensitive performance outcome measures with high face …
wearable technology could provide sensitive performance outcome measures with high face …
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
With molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA 3),
easily accessible, cross‐species validated biomarkers for human and preclinical trials are …
easily accessible, cross‐species validated biomarkers for human and preclinical trials are …
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
G Coarelli, A Heinzmann, C Ewenczyk… - The Lancet …, 2022 - thelancet.com
Background Riluzole has been reported to be beneficial in patients with cerebellar ataxia;
however, effectiveness in individual subtypes of disease is unclear due to heterogeneity in …
however, effectiveness in individual subtypes of disease is unclear due to heterogeneity in …
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 …
tests, and made recommendations regarding their use. Methods A systematic literature …
Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3
QF Li, Y Dong, L Yang, JJ **e, Y Ma, YC Du… - Molecular …, 2019 - Springer
Background Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of
autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood …
autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood …
Clinically meaningful magnetic resonance endpoints sensitive to preataxic spinocerebellar ataxia types 1 and 3
J Chandrasekaran, E Petit, YW Park… - Annals of …, 2023 - Wiley Online Library
Objective This study was undertaken to identify magnetic resonance (MR) metrics that are
most sensitive to early changes in the brain in spinocerebellar ataxia type 1 (SCA1) and type …
most sensitive to early changes in the brain in spinocerebellar ataxia type 1 (SCA1) and type …