DRPLA • Trinucleotide Repeat Disorder • CAG repeat on Chromosome 12 • 6 to 35 normal, 48 to 93 mutation • DRPLA disease named after DRPLA gene • Family inherited and anticipation illness • The age of onset is from one to 62 years with a mean age of onset of 30 years. (Shoji Tsuji, MD, PhD ) • Dentatorubral and pallidoluysian parts of the central nervous system . • cerebral white matter, putamen, Goll's nucleus of the medulla oblongata, and lateral corticospinal and Goll's tract of the spinal cord • Atrophin-1 is the protein product of the dentatorubral-pallidoluysian atrophy (DRPLA) gene • polyglutamine region in atrophin-1 is expanded with the expansion of the CAG repeat, becomes, altering its interactions with other proteins • neurotransmitters in the brain are blocked
ataxia (loss of balance) • choreoathetosis (involuntary rapid, irregular, jerky movements or slow, writhing movements that flow into one another) • dementia (inability to clearly think; confusion, poor judgment; failure to recognize people, places, and things; personality changes) • myoclonus (involuntary spasms of a muscle or muscle group) • epilepsy (seizures) • loss of intellectual function (mental retardation)(encyclopedia of genetic disorders)
Masks Huntington’s Disease, Alzheimer's, M.S., and Parkinson's Disease • DNA testing for CAG repeat, prenatal testing is available if 50% chance or more • Neuroimaging. MRI within white regions of the brain • Treatment and management • There is currently no cure for DRPLA; treatment is supportive. Epilepsy is treated with anti-seizure medication. • Prognosis • Patients with DRPLA have progressive disease, which means symptoms become worse over time.
26 yrs. old 22 years old 18 years old
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