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

Mee-Ohk Kim; Ignazio Cali; Abby Oehler; Jamie C Fong; Katherine Wong; Tricia See; Jonathan S Katz; Pierluigi Gambetti; Brianne M Bettcher; Stephen J DeArmond; Michael D Geschwind

doi:10.1186/2051-5960-1-80

Acta Neuropathologica Communications

Table 2 Lesion profiles of the E200G case

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

Pathology\ Brain regions	PrP^Scdeposition^a	Vacuolation^b	Reactive astrocytosis^c
Frontal	Layers 5, 6 ++/+++ (S/PL/FG)	Layer 6 +++	Pattern1: layer 1 +
	Layers 5, 6 ++/+++ (S/PL/FG)	Layers 2–5 ++	Pattern 2: layers 1–4 ++
	Layers 1–4 + (FG)		Pattern 3: layers 1–6 +++
Parietal	Layers 5, 6 ++	Layers 5–6 ++	Pattern1: layer 6 ++
	(S/PL/FG)	Layers 2–4 +	Pattern 2: layers 2–6 ++
	Layers 1–4 + (FG)	Layers 2–4 +	Pattern 2: layers 2–6 ++
Temporal	Layers 5, 6 ++/+++ (FG)	Lattern 1:	Pattern 1: layers 1–5 ++++
	Layers 1–4 ++ (FG)	Layers 3–6 +++	Pattern 2: layers 1–5 +/++
		Layer 2 SS
		Pattern 2:
		Layers 5–6 +++
		Layers 2–4 ++++ (SS)
Occipital	Layers 5, 6 + (FG)	Layer 6 +	Layers 1–6 −/+
Occipital	Layers 1–4 −/+ (FG)	Layer 6 +	Layers 1–6 −/+
Cingulate	Layers 1–6 +++ (FG)	Layers 2–3 ++	Layers 2–6 ++++
		Layers 4–5 +++
		Layer 6 ++
Insula	Layers 5, 6 +++ (FG)	Layers 5–6 +++	Layers 1–4 +++
Insula	Layers 1–4 ++ (FG)	Layers 2–3 ++	Layers 5, 6 −
Caudate	+++ (S, FG)	+++	+++
Putamen	+++ (S, FG)	+++	+++
Globus pallidus	Ext. +++ (FG)	Ext. +	Ext.++/+++
Globus pallidus	Int. ++/+++ (FG)	Int. +	Int. ++
Thalamus^d	Rostral: med.+/++ (S), lat. −	Rostral: med.++, lat.−/+	Rostral: med.++/+++, lat. +/++
	Middle: med. + (S), lat. −	Middle: med.++, lat.+	Middle & caudal: med. ++/+++, lat. −/+
	Caudal: med. 1+ but focal 2+, lat. -	Caudal: med.++/+++, lat. +	Middle & caudal: med. ++/+++, lat. −/+
Amygdala	++/+++ (FG)	+++	++/+++
Hippocampus^d	Dentate gyrus, CA4, CA3, and CA2: −/+	CA4, CA3, CA2, and CA1 prox. –	CA4, CA3 ++
	Dentate gyrus, CA4, CA3, and CA2: −/+	CA4, CA3, CA2, and CA1 prox. –	CA2, CA1 prox. –
	CA1: prox. ++, CA1 dist.+++ (FG)	CA1 dis. ++	CA1 dis. ++,
	Subiculucm: +++	Subiculum:	Subiculum ++,
	Entorhinal cortex: layers 5, 6 ++/+++	Layer 4 +++	Entorhinal cortex: layers 2–6 ++
	Entorhinal cortex: layers 5, 6 ++/+++	Layer 2 +/++	Entorhinal cortex: layers 2–6 ++
	Layers 1–4 −/++ (FG)	Entorhinal cortex	Transentorhinal cortex: layers 2–6 +++
	Transentorhinal cortex: layers 1–6 +++ (FG)	: layers 2,4 +++
	Transentorhinal cortex: layers 1–6 +++ (FG)	Transentorhinal cortex
		: layers 2–6 +++
Cerebellum	Molecular and granular layers −/+	Molecular and granular Layers – dentate nucleus +	Molecular layer ++/+++
			Granular layer +/++
			Dentate nucleus +
	Dentate nucleus +		Dentate nucleus +
Midbrain	Periaqueductal gray and tegmentum + (FG)	Periaqueductal gray ++	Periaqueductal gray +
Midbrain	Periaqueductal gray and tegmentum + (FG)	Tegmentum +	Tegmentum ++/+++
Substantia nigra	++/+++ (FG)	++	+/++
Medulla	Tegmentum ++ (FG)	Tegmentum +	Tegmentum +
Medulla	Inf. olive ++/+++ (FG)	Inf. olive -	Inf. olive +

^a PrP^Sc deposition scored on a 4-level scale: - absent, + mild, ++ moderate, +++ severe; ^b Vacuolation scored on a 5-level scale - absent, + mild, ++ moderate, +++ moderately severe, ++++/SS very severe/status spongiosis. ^c Reactive Astrocytosis scored on a 5 -point scale - absent, + mild, ++ moderate, +++ moderately severe, ++++ very severe. ^d data shown is from UCSF pathological analysis. NPDPSC analyses were generally in agreement with UCSF analyses except NPDPSC found +++ PrP^Sc in medial thalamus and hippocampus. Abbreviations: S Synaptic, PL Plaque-like, FG Finely granular, SS Status spongiosus, ext. Externa, int. Interna, med. Medial, lat. Lateral, prox. Proximal, dis. Distal, inf. Inferior.

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