CREUTZFELDT JAKOB DISEASE: An autopsied case of Creutzfeldt-Jakob disease with mutation in the prion protein gene codon 232 and type 1+2 prion protein

CASE REPORT

An autopsied case of Creutzfeldt-Jakob disease with mutation in the prion protein gene codon 232 and type 1+2 prion protein

Yasushi Iwasaki1,*, Fuji Yokoi2, Shinsui Tatsumi1, Maya Mimuro1, Katsushige Iwai3, Tetsuyuki Kitamoto4, Mari Yoshida1

Article first published online: 16 JAN 2013

DOI: 10.1111/neup.12013

Keywords:

coarse-type PrP deposition; codon 232; Creutzfeldt-Jakob disease; prion protein gene mutation; type 1+2 PrP

A 68-year-old Japanese man gradually showed abnormal behavior and gait disturbance with bradykinesia. Slowly progressive dementia, including memory disturbance and disorientation, was also observed. Cerebral cortical hyperintensity on diffusion-weighted MRI was observed 6 months after onset. The patient progressed to an akinetic mutism state with mild myoclonus, and atypical periodic sharp-wave complexes were observed by electroencephalogram 13 months after onset. He was clinically suspected of having atypical CJD and died after 19 months total disease duration. The brain weighed 1160 g and showed mild atrophy of the cerebrum and cerebellum with ventricular dilatation. Spongiform changes with varying vacuole size and gliosis was extensive in the cerebral cortex and basal ganglia. Neuron loss in the cerebral cortex, basal ganglia and thalamus was relatively mild. The cerebellum showed mild spongiform changes of the molecular layer and mild neuron loss in the Purkinje cell layer. PrP immunostaining showed mainly coarse-type combined with diffuse synaptic-type PrP deposition in the cerebral gray matter. Some perivacuolar-type PrP deposition was also present. Numerous plaque-type PrP depositions were observed in the molecular layer of the cerebellum. Analysis of the PrP gene revealed a methionine-to-arginine (Met-to-Arg) substitution at codon 232 (M232R) with Met homozygosity at codon 129. Western blot analysis of protease-resistant PrP indicated type 2 dominant PrP combined with type 1. Genetic CJD with M232R substitution in the PrP gene has only been reported in Japan. Although two clinical phenotypes (rapid-type and slow-type) were suggested in the M232R CJD cases (despite the presence of the same PrP genotype), the pathological and molecular backgrounds have not been well understood because there have only been a few autopsied case reports. This is the first case report of M232R CJD presenting with 1 + 2 PrP.

http://onlinelibrary.wiley.com/doi/10.1111/neup.12013/abstract

Monday, January 14, 2013

Gambetti et al USA Prion Unit change another highly suspect USA mad cow victim to another fake name i.e. sporadic FFI at age 16 CJD Foundation goes along with this BSe

http://transmissiblespongiformencephalopathy.blogspot.com/2013/01/gambetti-et-al-usa-prion-unit-change.html

Thursday, January 17, 2013

TSE guidance, surgical, dental, blood risk factors, Part 4 Infection control of CJD, vCJD and other human prion diseases in healthcare and community settings (updated January 2013)

http://transmissiblespongiformencephalopathy.blogspot.com/2013/01/tse-guidance-surgical-dental-blood-risk.html

Friday, January 18, 2013

NPDPSC Gambetti et al pleading for more autopsies on suspect CJD cases Dear Clinician:

http://creutzfeldt-jakob-disease.blogspot.com/2013/01/npdpsc-gambetti-et-al-pleading-for-more.html