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SCA3 Can Manifest Phenotypically with ALS-like Characteristics
Internal MedicineSinda Zarrouk, Josef Finsterer
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Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models [PDF]
Molecular Therapy - Nucleic Acids, 2017 The most common dominantly inherited ataxia, spinocerebellar ataxia type 3 (SCA3), is an incurable neurodegenerative disorder caused by a CAG repeat expansion in the ATXN3 gene that encodes an abnormally long polyglutamine tract in the disease protein ...
Holly B Kordasiewicz +2 more
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Pathogenesis of SCA3 and implications for other polyglutamine diseases
Neurobiology of Disease, 2020 Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective disease genes. The nine known polyQ disease include Huntington's disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA), and six ...
Hayley S Mcloughlin, Henry L Paulson
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International Journal of Molecular Sciences, 2022 Spinocerebellar ataxia type 3 (SCA3) is characterized by the over-repetitive CAG codon in the ataxin-3 gene (ATXN3), which encodes the mutant ATXN3 protein.
Jui-Hao Lee +2 more
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Acta Neurologica Scandinavica, 2003 Objectives: MJD1/SCA3 is the most common type of spinocerebellar ataxia (SCA) worldwide. To explain the low prevalence of the disease among SCA patients from eastern India, we analysed CAG repeats and two bi-allelic intragenic markers at SCA3 locus among
P Basu +2 more
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Growth hormone rescue cerebellar degeneration in SCA3 transgenic mice
Biochemical and Biophysical Research Communications, 2020Spinocerebellar ataxia type 3 (SCA3) is a fatal neurodegenerative disease for which no identified effective treatment or prevention methods exist. However, low-dose growth hormone (GH) therapy, as a potential off-label use, may deter the progress of SCA3.
Kohung Liu, Yuling Wu, Chinsan Liu
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Age is an important independent modifier of SCA3 phenotype severity
Neuroscience Letters, 2021This study aimed to investigate factors modulating spinocerebellar ataxia type 3 (SCA3) phenotype severity besides the expanded CAG repeats (ExpCAG) of ATXN3.Data regarding CAG trinucleotide repeats, age at onset (AO), duration, age, sex, transmitting parent, and scale scores of SCA3 patients were collected.
Shujun, Jiao +7 more
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Machado-Joseph disease and SCA3
Neurology, 1996Neurology 1996;46:4-8 Based on initial descriptions, Machado-Joseph disease (MJD) was thought to be a distinct clinicopathologic entity. This autosomal dominant disorder was originally described in the Machado family on the Azorean island of San Miguel, [1] in the Thomas family, which had migrated from San Miguel to Massa-chusetts, [2] and in the ...
Larry Junck, John K. Fink
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SCA3: Neurological features, pathogenesis and animal models
The Cerebellum, 2007The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical variability of the phenotype depends on the length of the expanded repeat and the age at onset (and thus indirectly with the repeat size).
Riess Olaf +4 more
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MicroRNA profiling in the serums of SCA3/MJD patients
International Journal of Neuroscience, 2013Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is the most common type of spinocerebellar ataxia in China. However, the pathogenesis of SCA3/MJD is still unknown. MicroRNAs (miRNAs) have been repeatedly demonstrated to exist in human peripheral serum in a bio-stable form and have been shown to be useful biomarkers for other ...
Yuting, Shi +7 more
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