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

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

	E200G-129V (M)				E200K-129V(M) [17]				E200K-129M(V) [1, 8, 14]
Pathology^a\ Brain regions	A	B	C	D	A	B	C	D	A	B	C	D
Cortex	+++	+++	+++	++ /+++	++/+++^c	+++^b	n/a	+++^b	+++^d	+/++^e	+++^d	+++^d
Cortex	+++	+++	+++	++ /+++	++/+++^c	+++^b	n/a	+++^b	+/++^e		+/++^e	+/++^e
Striatum	+++	+++	+++	++ /+++	++/+++^c	+++^b	n/a	+++^b	++^d	++^e	++^{d, e}	++^{d, e}
Striatum	+++	+++	+++	++ /+++	++/+++^c	+++^b	n/a	+++^b	++/+++^e	++^e	++^{d, e}	++^{d, e}
Hippocampi	++/+++	-	-	-	+^b	++/+++^b	n/a	+++^b	++^e	+^e	+^e	+^e
Hippocampi	++/+++	-	-	-	+^b	++/+++^b	n/a	+++^b	++^e	++/+++^b	+^e	+^e
Thalamus	+++	+/++	+++	+++	++/+++^c	+^b	-^b	-^b	++/+++^e	++^e	++^e	++^e
Thalamus	+++	+/++	+++	+++	++/+++^c	+^b	-^b	-^b	++/+++^e	+^b	-^b	-^b
Cerebellum	+	+	+/++	++	++/+++^b	+++^b	n/a	+++^b	++^d	+^e	++^d	++^d
Cerebellum	+	+	+/++	++	+++^c				++^e		+^e	+^e
Vacuole size, mean		14. 9				11.9				11.8
(range μm)		(4–108)^b				(4–72)^b				(4–69)^b
PrP^Sc 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 PrP^Sc	Striatum, hippocampi				Put, GP(20%)				Put, GP
	Striatum, hippocampi				SN, PAG				(12.5%)
	SN				(67%)				CA4 of hippo (37.5%)
	MT				CDN (100%)^b				CA4 of hippo (37.5%)
	MT				CDN (100%)^b				SN, PAG
	PAG								(100%)
	MION
	CDN
									CDN (80%)^b
PrP^Sc type	2				2^c				1 (47%),
					2(86%), 1 + 2(14%)^b				2 (26.5%),
					2(86%), 1 + 2(14%)^b				1 + 2 (26.5%)^b

Abbreviations and Definitions:^a A PrP^Sc 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.

ISSN: 2051-5960