Abstract
We report two autopsy cases of Creutzfeldt–Jakob disease (CJD) with the M232R mutation
of the prion protein (PrP) gene that exhibited different clinicopathological features
(age at death, 64/54 years; disease duration, 13/26 months). Both cases showed myoclonus, hyperintensity on diffusion-weighted MRI, and
increased 14-3-3 protein in the cerebrospinal fluid. The initial sign in each case
was memory disturbance and abnormal pharyngeal sensation, respectively. In the first
case, the disease progressed rapidly with akinetic mutism developing 6 months after onset, while it occurred 23 months after onset in the second case. Pathologically, both cases had severe neuronal
loss with gliosis and spongiform change in the cerebral cortex, basal ganglia, and
cerebellum. PrP deposition was the diffuse synaptic type in the first case, but the
second case had both diffuse synaptic and perivacuolar types. PrPsc immunoblotting revealed a type 1 band pattern in the first case, but both types 1
and 2 in the second case. Based on these findings, together with the results in previous
CJD cases with M232R, we noted the possibility that the presence of type 2 PrPsc may be associated with both morphological features of PrP deposition and slow disease
progression in this genetic prion disease.
Keywords
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Article info
Publication history
Published online: October 10, 2011
Accepted:
August 4,
2011
Received in revised form:
July 12,
2011
Received:
April 25,
2011
Identification
Copyright
© 2011 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
