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Table 4 Summary of histopathological and molecular comparison between the E200G and E200K cases

From: Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases

  E200G-129V (M) E200K-129V(M) [17] E200K-129M(V) [1, 8, 14]
Pathologya\ Brain regions A B C D A B C D A B C D
Cortex +++ +++ +++ ++ /+++ ++/+++c +++b n/a +++b +++d +/++e +++d +++d
+/++e   +/++e +/++e
Striatum +++ +++ +++ ++ /+++ ++/+++c +++b n/a +++b ++d ++e ++d, e ++d, e
++/+++e
Hippocampi ++/+++ - - - +b ++/+++b n/a +++b ++e +e +e +e
++/+++b
Thalamus +++ +/++ +++ +++ ++/+++c +b -b -b ++/+++e ++e ++e ++e
+b -b -b
Cerebellum + + +/++ ++ ++/+++b +++b n/a +++b ++d +e ++d ++d
+++c     ++e   +e +e
Vacuole size, mean   14. 9     11.9     11.8   
(range μm)   (4–108)b     (4–72)b     (4–69)b   
PrPSc staining pattern Finely granular synaptic +++     Finely granular synaptic ++/+++b, c     Finely granular synaptic +++e, f    
Plaque-like +     Plaque ++/+++b, c     Plaque-like ++/+++e, +f    
Intra-neuronal +     Intra-neuronal + b     Intra-neuronal ++/+++e    
Regions with linear and curvilinear arrays of PrPSc Striatum, hippocampi     Put, GP(20%)     Put, GP    
SN, PAG     (12.5%)    
SN     (67%)     CA4 of hippo (37.5%)    
MT     CDN (100%)b
SN, PAG
PAG      (100%)    
MION
CDN
         CDN (80%)b    
PrPSc type 2     2c     1 (47%),    
2(86%), 1 + 2(14%)b     2 (26.5%),    
1 + 2 (26.5%)b    
  1. Abbreviations and Definitions:a A PrPSc deposit, B Vacuolation, C Neuronal Loss, D Reactive Astrocytosis, SN Substantia nigra, MT Midbrain tegmentum, PAG Periaqueductal gray matter, MION Medullary inferior olivary nucleus, CDN Cerebellar dentate nucleus, Put Putamen, GP Globus pallidus, - absent, + mild, ++ moderate, +++ severe, b NPDPSC analysis in this study, c from reference [17] (n = 1), d from reference [1], e from reference [14] (n = 14), f from reference [8], n/a not available.