Spinocerebellar ataxia
T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
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 …
[HTML][HTML] Fixel-based analysis of diffusion MRI: methods, applications, challenges and opportunities
Diffusion MRI has provided the neuroimaging community with a powerful tool to acquire in-
vivo data sensitive to microstructural features of white matter, up to 3 orders of magnitude …
vivo data sensitive to microstructural features of white matter, up to 3 orders of magnitude …
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 …
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …
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 …
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 …
[HTML][HTML] Autosomal recessive cerebellar ataxias: paving the way toward targeted molecular therapies
Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …
degenerative and metabolic genetic diseases that share the hallmark of progressive …
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 …
Regional brain and spinal cord volume loss in spinocerebellar ataxia type 3
Background Given that new therapeutic options for spinocerebellar ataxias are on the
horizon, there is a need for markers that reflect disease‐related alterations, in particular, in …
horizon, there is a need for markers that reflect disease‐related alterations, in particular, in …
Spinocerebellar ataxia clinical trials: opportunities and challenges
SM Brooker, CR Edamakanti… - Annals of clinical …, 2021 - Wiley Online Library
The spinocerebellar ataxias (SCAs) are a group of dominantly inherited diseases that share
the defining feature of progressive cerebellar ataxia. The disease process, however, is not …
the defining feature of progressive cerebellar ataxia. The disease process, however, is not …
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 …
degenerative ataxias might greatly benefit from ecologically valid endpoints that capture …