Results 31 to 40 of about 5,948 (206)
Impaired Oligodendrocyte Maturation Is an Early Feature in SCA3 Disease Pathogenesis [PDF]
The Journal of Neuroscience, 2021 Spinocerebellar ataxia Type 3 (SCA3), the most common dominantly inherited ataxia, is a polyglutamine neurodegenerative disease for which there is no disease-modifying therapy. The polyglutamine-encoding CAG repeat expansion in the ATXN3 gene results in expression of a mutant form of the ...
Kristen H. Schuster +10 more
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Frontiers in Neuroscience, 2023 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN3 gene. Though the ATXN3 protein is expressed ubiquitously throughout the CNS, regional pathology in SCA3 patients is observed within select ...
Kristen H. Schuster +9 more
doaj +1 more source
SCA3 Presenting as an Isolated Axonal Polyneuropathy [PDF]
Archives of Neurology, 2011 To highlight an unexpected clinical presentation and to review the associated polyneuropathy phenotypes of SCA3.Clinical follow-up.Neurological referral center.Middle-aged man with no family history for SCA3.Presentation with an isolated axonal, distal, symmetric, sensorimotor polyneuropathy for 6 years before developing a cerebellar syndrome prompting
Tracey D, Graves, Roberto J, Guiloff
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GABAergic neuronal dysfunction underlies tremor in spinocerebellar ataxia 3 [PDF]
Disease Models & MechanismsAnimesh Banerjee +8 more
doaj +2 more sources
Frontiers in Neurology, 2023 PurposeIncreasing neuroimaging studies have revealed gray matter (GM) and white matter (WM) anomalies of several brain regions by voxel-based morphometry (VBM) studies on patients with spinocerebellar ataxia type 3 (SCA3); however, the findings of ...
Hai Liu +3 more
doaj +1 more source
Supratentorial and Infratentorial Lesions in Spinocerebellar Ataxia Type 3
Frontiers in Neurology, 2020 Background: Spinocerebellar ataxia type 3 (SCA) is a cerebellum-dominant degenerative disorder that is characterized primarily by infratentorial damage, although less severe supratentorial involvement may contribute to the clinical manifestation.
Po-Shan Wang +14 more
doaj +1 more source
Autophagy Function and Benefits of Autophagy Induction in Models of Spinocerebellar Ataxia Type 3
Cells, 2023 Background: Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of the trinucleotide repeat region within the ATXN3/MJD gene. The presence of this genetic expansion results in
Maxinne Watchon +4 more
doaj +1 more source
A pilot study: handgrip as a predictor in the disease progression of SCA3
Orphanet Journal of Rare Diseases, 2023 Abstract Background Spinocerebellar ataxia type 3 (SCA3) is an inherited, autosomal, and rare neurodegenerative disease. Serum/plasma biomarkers or functional magnetic resonance imaging used to assess progression, except for neurological examinations, is either inconvenient or expensive ...
Chungmin Chiu +8 more
openaire +3 more sources
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
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]
, 2008 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen +15 more
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