title: Creutzfeldt-Jakob disease with the M232R mutation in the prion protein gene in two cases showing different disease courses: a clinicopathological study.
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. PrP(sc) 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 PrP(sc) may be associated with both morphological features of PrP deposition and slow disease progression in this genetic prion disease.
authors: Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors: Naoya
authors: N
authors: Takeda
authors: Osamu
authors: O
authors: Yokota
authors: Seishi
authors: S
authors: Terada
authors: Takashi
authors: T
authors: Haraguchi
authors: Keigo
authors: K
authors: Nobukuni
authors: Reiko
authors: R
authors: Mizuki
authors: Hajime
authors: H
authors: Honda
authors: Hidenori
authors: H
authors: Yoshida
authors: Yuki
authors: Y
authors: Kishimoto
authors: Etsuko
authors: E
authors: Oshima
authors: Hideki
authors: H
authors: Ishizu
authors: Katsuya
authors: K
authors: Satoh
authors: Tetsuyuki
authors: T
authors: Kitamoto
authors: Yuetsu
authors: Y
authors: Ihara
authors: Yosuke
authors: Y
authors: Uchitomi
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology*; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008569:Memory Disorders / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D018620:PrPSc Proteins / Q000235:genetics* / Q000378:metabolism; D012678:Sensation Disorders / Q000235:genetics / Q000473:pathology
chemical_list: D018620:PrPSc Proteins