Results 21 to 30 of about 4,926 (176)
Translational 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
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PLoS ONE, 2022 Background The standardized T1-weighted/T2-weighted (sT1w/T2w) ratio for the middle cerebellar peduncle (MCP) has been reported to be sensitive for detecting degenerative changes in the cerebellar subtype of multiple system atrophy (MSA-C), even in the ...
Jiaqi Wang +12 more
doaj +2 more sources
Frontiers 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
Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3
Arquivos 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
Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. [PDF]
PLoS Genetics, 2015 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an untreatable autosomal dominant neurodegenerative disease, and the most common such inherited ataxia worldwide.
Rui Gao +13 more
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The cerebral metabolic topography of spinocerebellar ataxia type 3
NeuroImage: 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
Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients
Annals 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
Frontiers 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
EMBO 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
Abnormal eye movements in spinocerebellar ataxia type 3
BMC Neurology, 2021 Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore the frequency of abnormal eye movements in Chinese patients with SCA3, to compare the demographic and clinical characteristics ...
Junyu Lin +9 more
doaj +1 more source