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Frontiers in Neuroscience, 2020 Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive autosomal dominantly inherited cerebellar ataxia characterized by the aggregation of polyglutamine-expanded protein within neuronal nuclei in the brain, which can lead to brain damage that precedes the onset of clinical manifestations.
Linlin Wan, Beisha Tang, Na Wan
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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 ...
Henry Paulson, Hayley S Mcloughlin
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Antisense Oligonucleotide Therapy Against SCA3
Contemporary Clinical Neuroscience, 2023Hayley S Mcloughlin, Mcloughlin Hayley S
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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.
Chin-San Liu +2 more
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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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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, ATXN3.
Henry Paulson +2 more
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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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2001
Once thought to be rare, spinocerebellar ataxia type 3 (SCA3) is now believed to be the most common dominantly inherited ataxia. Of the polyglutamine disorders described to date, SCA3 has perhaps the most interesting history—one that reflects past confusion about the clinical spectrum of this remarkably pleiotropic disease.
Puneet Opal, Henry Paulson
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Once thought to be rare, spinocerebellar ataxia type 3 (SCA3) is now believed to be the most common dominantly inherited ataxia. Of the polyglutamine disorders described to date, SCA3 has perhaps the most interesting history—one that reflects past confusion about the clinical spectrum of this remarkably pleiotropic disease.
Puneet Opal, Henry Paulson
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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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