A case of MV2K subtype of sporadic Creutzfeldt–Jakob disease with florid‐like plaques: Similarities and differences to variant Creutzfeldt–Jakob disease

Abstract

Variant Creutzfeldt–Jakob disease (vCJD) is traditionally regarded as having a distinct clinical course, imaging study findings and neuropathological features, which in combination should allow a clear distinction from the six currently well‐defined subtypes of sporadic Creutzfeldt‐Jakob disease (sCJD). This is of major importance, especially from the standpoint of epidemiology. As we would like to demonstrate through this case report, the MV2K subtype of sCJD, being rare and heterogeneous in both clinical and neuropathological presentations, might challenge this concept by virtue of partial overlapping, both clinically and neuropathologically, with the characteristic phenotype of vCJD. Chiefly, we observed prolonged isolated psychiatric prodrome, new onset limb pain and late cognitive decline clinically, while florid‐like plaques were present on routine histology, albeit in scarce and regionally restricted distribution when compared to vCJD. However, the issue is further complicated by the fact that a case of vCJD in a heterozygous (i.e. methionine – M and valine ‐ V) allelic state with regard to the polymorphic codon 129 of the prion protein gene (PRNP) has recently been described in the UK, which deviated from the otherwise well‐defined and constant clinicopathological phenotype that vCJD had thus far demonstrated. Taking both the facts into account, we would like to emphasize the use of complementary diagnostic methods to the established and otherwise reliable histological type‐based model, particularly when confronted with a rare or atypical phenotype such as ours.

A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques

“…The patient was of the 129MV genotype and harbored resPrP D T2. Despite the presence of florid plaques and several clinical features overlapping with vCJD, the authors concluded that the patient’s atypical phenotype was likely due to the known heterogeneity of the -MV2 subtype [ 6 , 49 , 57 ]. The resPrP D glycotype of this patient mimicked that of sCJD, characterized by the predominance of the monoglycosylated resPrP D isoform.…”

An autopsy case of MV 2K + C subtype of Creutzfeldt–Jakob disease

“…3,4,9 Clinical and neuropathological characterizations of the previous MV2 cases are summarized in Table 2. [4][5][6][7][8][9][10] Neuropathologically, the present case showed small-sized (approximately 20 μm in diameter) kuru plaques and smaller plaque-like deposits (5-10 μm in diameter) in the cerebellum, which has been reported to be a probable typical pathological finding of MV 2 K + C. 4 In the present case, the plaque-like deposits in the putamen and thalamus consisted of small deposits (5-10 μm in diameter) similar to those in the cerebellum, different from those in the cerebral cortex, which showed various patterns such as accumulations of small granules and coarse granular and small deposits. The differing morphologies of plaque-like deposits depending on the regions might also be a characteristic of MV2K + C. Furthermore, we found synaptic immunoreactive structures along the axons in the cerebral cortex, and this finding probably includes perineuronal apical axon staining.…”

“…2 MV2 is the most complicated subtype of sCJD because of its wide phenotypic variation and rarity, and detailed neuropathological analysis remains limited. [3][4][5][6][7][8][9][10] Clinically, the MV2 subtype is characterized by a relatively long clinical course of approximately 17 to 18 months, and major clinical symptoms comprise progressive cognitive decline and ataxia 3,11,12 In the MV2 subtype, magnetic resonance images (MRI) tend to show hyperintensity in the basal ganglia and thalamus in addition to the cerebral cortex on diffusion-weighted and fluid-attenuated inversion recovery (FLAIR) images. 3,11,12 Typical electroencephalogram (EEG) and cerebrospinal fluid (CSF) findings are rare in Correspondence: Yuko Saitox, Department of Neuropathology (Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi-ku, Tokyo, 03-3964-3241, Japan.…”

Creutzfeldt-Jakob-Krankheit – eine mögliche Differentialdiagnose an einer Psychiatrie

“…Das Besondere an der MV2K-Variante ist, dass sie vor allem zu Beginn mit einem besonders vielfältigen symptomatischen Bild einhergeht und einen im Vergleich zu anderen Subtypen prolongierten Krankheitsverlauf zeigt. Sie kann anfangs nur psychiatrische Symptome zeigen und erst relativ spät mit kognitivem Abbau einhergehen [7].…”