Dentatorubral-pallodoluysian
Atrophy (DRPLA)
DRPLA
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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
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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)
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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
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Treatment and management
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the brain
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There is currently no cure for DRPLA;
treatment is supportive. Epilepsy is
treated with anti-seizure medication.
Prognosis
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Patients with DRPLA have progressive
disease, which means symptoms become
worse over time.
26 yrs. old
22 years old
18 years old
27 yrs. old
28 yrs. old
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Last Birthday
Weeks before he passed