Results 61 to 70 of about 5,948 (206)
Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11 [PDF]
, 2016 Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by an expansion of the CAG-repeat in ATXN3. In this study, induced pluripotent stem cells (iPSCs) were generated from SCA3 patient dermal fibroblasts by ...
Tina C. Stummann +19 more
core +1 more source
, 2021 Contains fulltext : 238567.pdf (Publisher’s version ) (Open Access)BACKGROUND: The cerebellar cognitive affective syndrome scale (CCAS-S) was recently developed to detect specific neuropsychological deficits in patients with cerebellar ...
Maas, R.P.P.W.M. +3 more
core +1 more source
RAN Translation of the Expanded CAG Repeats in the SCA3 Disease Context
Journal of Molecular Biology, 2020 Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by a CAG repeat expansion in the ATXN3 gene encoding the ataxin-3 protein. Despite extensive research the exact pathogenic mechanisms of SCA3 are still not understood in depth.
Magdalena, Jazurek-Ciesiolka +5 more
openaire +2 more sources
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Cerebral cortex of SCA3 patients.
, 2015 (a) significant decrease in 3D-FD values in comparison with that of normal subjects. (b) A significant correlation was observed between decreased 3D-FD values and disease duration in cerebral cortex of SCA3 (r = -0.0330, p = 0.0287).
Tzu-Yun Wang (427574) +6 more
core +1 more source
, 2022 Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited cerebellar ataxia caused by the expansion of a polyglutamine (polyQ) repeat in the gene encoding ATXN3.
Karen Jansen-West (437936) +15 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Frontiers in Neurology, 2022 Spinocerebellar ataxia type 3 (SCA3), as the most frequent autosomal dominant ataxia worldwide, is characterized by progressive cerebellar ataxia, dysarthria and extrapyramidal signs.
Yi Jin +16 more
doaj +1 more source
Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients
Movement Disorders Clinical Practice, EarlyView.Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers +5 more
wiley +1 more source
Frontiers in Molecular Neuroscience, 2019 Spinocerebellar ataxia 3, also known as Machado-Joseph disease (SCA3/MJD), is a rare autosomal-dominant neurodegenerative disease caused by an abnormal expansion of CAG repeats in the ATXN3 gene.
Zhi-hua Yang +9 more
doaj +1 more source