Results 41 to 50 of about 5,948 (206)

Microstructural Alterations in Asymptomatic and Symptomatic Patients with Spinocerebellar Ataxia Type 3: A Tract-Based Spatial Statistics Study

open access: yesFrontiers in Neurology, 2017
ObjectiveSpinocerebellar ataxia type 3 (SCA3) is the most commonly occurring type of autosomal dominant spinocerebellar ataxia. The present study aims to investigate progressive changes in white matter (WM) fiber in asymptomatic and symptomatic patients ...
Xinwei Wu   +21 more
doaj   +1 more source

CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells

open access: yesTranslational Psychiatry, 2021
Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a progressive autosomal dominant neurodegenerative disease caused by abnormal CAG repeats in the exon 10 of ATXN3.
Lang He   +21 more
doaj   +1 more source

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3

open access: yesArquivos de Neuro-Psiquiatria, 2021
Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment.
Maria Thereza Drumond Gama   +6 more
doaj   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

open access: yes, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Georg Auburger   +9 more
core   +1 more source

The cerebral metabolic topography of spinocerebellar ataxia type 3

open access: yesNeuroImage: Clinical, 2018
Introduction: We aimed to uncover the pattern of network-level changes in neuronal function in Spinocerebellar ataxia type 3 (SCA3). Methods: 17 genetically-confirmed SCA3 patients and 16 controls underwent structural MRI and static resting-state [18F ...
Sanne K. Meles   +10 more
doaj   +1 more source

Transcriptomic and Metabolic Network Analysis of Metabolic Reprogramming and IGF-1 Modulation in SCA3 Transgenic Mice

open access: yes, 2021
Spinocerebellar ataxia type 3 (SCA3) is a genetic neurodegenerative disease for which a cure is still needed. Growth hormone (GH) therapy has shown positive effects on the exercise behavior of mice with cerebellar atrophy, retains more Purkinje cells ...
Yu-Te Lin   +6 more
core   +1 more source

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients

open access: yesAnnals of Clinical and Translational Neurology, 2020
Objective Spinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases, with balance instability as main symptom. Balance quantification is crucial for evaluating the efficacy of therapeutic interventions. However,
Xia‐Hua Liu   +13 more
doaj   +1 more source

Establish a Nomogram to Predict Falls in Spinocerebellar Ataxia Type 3

open access: yesFrontiers in Neurology, 2021
Purpose: Falls are common and are frequently accompanied by injuries in patients with spinocerebellar ataxias type 3 (SCA3). We explored which factors could predict falls in a cohort of patients with SCA3 and developed a nomogram model to predict the ...
Junyu Lin   +9 more
doaj   +1 more source

Therapeutic effects of engineered exosome-based miR-25 and miR-181a treatment in spinocerebellar ataxia type 3 mice by silencing ATXN3

open access: yesMolecular Medicine, 2023
Background Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant hereditary ataxia worldwide, which is however in a lack of effective treatment.
Zhenchu Tang   +3 more
doaj   +1 more source

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

open access: yesEMBO Molecular Medicine, 2020
With molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA3), easily accessible, cross‐species validated biomarkers for human and preclinical trials are warranted, particularly for the preataxic disease stage.
Carlo Wilke   +36 more
doaj   +1 more source

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