Dentatorubral-pallidoluysian Atrophy
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.
Read more about Dentatorubral-pallidoluysian Atrophy: Signs and Symptoms, Genetics, Pathology, Diagnosis, Management, Epidemiology
Famous quotes containing the word atrophy:
“The author’s conviction on this day of New Year is that music begins to atrophy when it departs too far from the dance; that poetry begins to atrophy when it gets too far from music; but this must not be taken as implying that all good music is dance music or all poetry lyric. Bach and Mozart are never too far from physical movement.”
—Ezra Pound (1885–1972)