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Related Subjects: |Dementias |Abbreviated Mental Test Score (AMTS)
Dentatorubral Pallidoluysian Atrophy (DRPLA) is a rare, hereditary neurodegenerative disorder characterized by progressive ataxia, choreoathetosis, myoclonus, seizures, and dementia. It is classified as a trinucleotide repeat disorder, specifically involving an expanded CAG repeat in the ATN1 gene on chromosome 12.
The number of CAG repeats in the ATN1 gene correlates with the severity and age of onset of the disease: