Rapidly Progressive Creutzfeldt-Jakob Disease VV1 Subtype

Anuradha Kolluru, Alberto M Jacir, Mamta Sharma

Abstract


    Creutzfeldt-Jakob disease (CJD) is rare transmissible spongiform encephalopathy caused by abnormal, host-encoded prion proteins that accumulate in the central nervous tissue. CJD occurs in 3 forms: sporadic, familial and acquired (iatrogenic and variant). Six different molecular subtypes (MM1, MM2, MV1, MV2, VV1, and VV2) of sporadic CJD (sCJD) have been identified by genotype at codon 129. The VV1 type represents one of the rarest subtypes. In contrast to the classic sCJD types, these patients are characterized by young age at onset, and slowly progressive dementia. Our case illustrates that sCJD VV1 subtype can have a rapid progression. A 50 year old Caucasian presented with memory loss and personality changes. Magnetic resonance imaging of the brain showed increased signal intensity in the grey mater of cerebral cortex. Brain biopsy confirmed the diagnosis of sCJD VV1 subtype. Currently there is no effective treatment and patient succumbed to death within 3 months of presentation.



 doi:10.4021/jmc221w


Keywords


Creutzfeldt-Jakob disease; Prion diseases; Memory loss

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