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Dentatorubral-pallodoluysian Atrophy (DRPLA)

Dentatorubral-pallodoluysian Atrophy (DRPLA)

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Dentatorubral-pallodoluysian Atrophy (DRPLA)

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  1. Dentatorubral-pallodoluysian Atrophy (DRPLA)

  2. 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

  3. 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)

  4. 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.

  5. 26 yrs. old 22 years old 18 years old

  6. 27 yrs. old 28 yrs. old

  7. 3 2 Y R S O L D Last Birthday Weeks before he passed