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 …

Spinocerebellar ataxias: prospects and challenges for therapy development

T Ashizawa, G Öz, HL Paulson - Nature Reviews Neurology, 2018 - nature.com
The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …

[HTML][HTML] Pathogenesis of SCA3 and implications for other polyglutamine diseases

HS McLoughlin, LR Moore, HL Paulson - Neurobiology of disease, 2020 - Elsevier
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine
(polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective …

Structural signature of SCA3: from presymptomatic to late disease stages

TJR Rezende, JLR de Paiva, ARM Martinez… - Annals of …, 2018 - Wiley Online Library
Objective Machado–Joseph disease (SCA3/MJD) is the most frequent spinocerebellar
ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar damage …

Regional brain and spinal cord volume loss in spinocerebellar ataxia type 3

J Faber, T Schaprian, K Berkan, K Reetz… - Movement …, 2021 - Wiley Online Library
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 …

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 …

Impaired oligodendrocyte maturation is an early feature in SCA3 disease pathogenesis

KH Schuster, AJ Zalon, H Zhang… - Journal of …, 2022 - Soc Neuroscience
Spinocerebellar ataxia Type 3 (SCA3), the most common dominantly inherited ataxia, is a
polyglutamine neurodegenerative disease for which there is no disease-modifying therapy …

[HTML][HTML] Autosomal dominant cerebellar ataxias: imaging biomarkers with high effect sizes

IM Adanyeguh, V Perlbarg, PG Henry, D Rinaldi… - NeuroImage: Clinical, 2018 - Elsevier
Objective As gene-based therapies may soon arise for patients with spinocerebellar ataxia
(SCA), there is a critical need to identify biomarkers of disease progression with effect sizes …

[PDF][PDF] Paving the way toward meaningful trials in ataxias: an ataxia global initiative perspective

T Klockgether, T Ashizawa, B Brais… - … disorders. New York …, 2022 - lume.ufrgs.br
Ataxias, in particular if of genetic origin, have long been considered untreatable. They are
now becoming models for the development of targeted molecular therapies due to their …

Diffusion-MRI in neurodegenerative disorders

J Goveas, L O'Dwyer, M Mascalchi, M Cosottini… - Magnetic resonance …, 2015 - Elsevier
The ability to image the whole brain through ever more subtle and specific
methods/contrasts has come to play a key role in understanding the basis of brain …