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 …

Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3

QF Li, Y Dong, L Yang, JJ Xie, 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 …

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

H Garcia‐Moreno, M Prudencio… - European journal of …, 2022 - Wiley Online Library
Background and purpose Clinical trials in spinocerebellar ataxia type 3 (SCA3) will require
biomarkers for use as outcome measures. Methods To evaluate total tau (t‐tau), glial …

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 …

[HTML][HTML] Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view

G Coarelli, A Brice, A Durr - F1000Research, 2018 - ncbi.nlm.nih.gov
Recent advances in understanding dominant spinocerebellar ataxias from clinical and
genetic points of view - PMC Back to Top Skip to main content NIH NLM Logo Access keys …

Peripheral inflammation links with the severity of clinical phenotype in spinocerebellar ataxia 2

Y Vázquez‐Mojena, Y Rodríguez‐Córdova… - Movement …, 2023 - Wiley Online Library
Background The role of peripheral inflammation in spinocerebellar ataxia type 2 (SCA2) is
unknown. Objective The objective of this study was to identify peripheral inflammation …

[HTML][HTML] Specific biomarkers in spinocerebellar ataxia type 3: A systematic review of their potential uses in disease staging and treatment assessment

AE Soto-Piña, CC Pulido-Alvarado, J Dulski… - International journal of …, 2024 - mdpi.com
Spinocerebellar ataxia type 3 (SCA3) is the most common type of disease related to poly-
glutamine (polyQ) repeats. Its hallmark pathology is related to the abnormal accumulation of …

Peripheral oxidative stress biomarkers in spinocerebellar ataxia type 3/Machado–Joseph disease

AM de Assis, JAM Saute, A Longoni, CB Haas… - Frontiers in …, 2017 - frontiersin.org
Objectives Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a
polyglutamine disorder with no current disease-modifying treatment. Conformational …

Identifying therapeutic targets for spinocerebellar ataxia type 3/Machado–Joseph disease through integration of pathological biomarkers and therapeutic strategies

YS Chen, ZX Hong, SZ Lin, HJ Harn - International journal of molecular …, 2020 - mdpi.com
Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a progressive motor
disease with no broadly effective treatment. However, most current therapies are based on …