Dentatorubral-pallodoluysian Atrophy (DRPLA)

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 Huntingtons 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