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- Q2280285 subject Q13276590.
- Q2280285 subject Q6584894.
- Q2280285 subject Q6853345.
- Q2280285 subject Q8873243.
- Q2280285 abstract "Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. It is also known as Haw River Syndrome and Naito-Oyanagi disease. Although this condition was perhaps first described by Smith et al. in 1958, and several sporadic cases have been reported from Western countries, this disorder seems to be very rare except in Japan.There are at least eight neurodegenerative diseases that are caused by expanded CAG repeats encoding polyglutamine (polyQ) stretches (see: Trinucleotide repeat disorder). The expanded CAG repeats create an adverse gain-of-function mutation in the gene products. Of these diseases, DRPLA is most similar to Huntington's disease.".
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- Q2280285 meshid "D020191".
- Q2280285 name "Dentatorubral-pallidoluysian atrophy".
- Q2280285 omim "125370".
- Q2280285 type Disease.
- Q2280285 type Thing.
- Q2280285 type Q12136.
- Q2280285 comment "Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a CAG repeat encoding a polyglutamine tract in the atrophin-1 protein. It is also known as Haw River Syndrome and Naito-Oyanagi disease. Although this condition was perhaps first described by Smith et al.".
- Q2280285 label "Dentatorubral-pallidoluysian atrophy".
- Q2280285 name "Dentatorubral-pallidoluysian atrophy".