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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

PrPScdepositiona

Vacuolationb

Reactive astrocytosisc

Frontal

Layers 5, 6 ++/+++ (S/PL/FG)

Layer 6 +++

Pattern1: layer 1 +

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)

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 −/+

Layers 1–4 −/+ (FG)

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 +++

Layers 1–4 ++ (FG)

Layers 2–3 ++

Layers 5, 6 −

Caudate

+++ (S, FG)

+++

+++

Putamen

+++ (S, FG)

+++

+++

Globus pallidus

Ext. +++ (FG)

Ext. +

Ext.++/+++

Int. ++/+++ (FG)

Int. +

Int. ++

Thalamusd

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. +

Amygdala

++/+++ (FG)

+++

++/+++

Hippocampusd

Dentate gyrus, CA4, CA3, and CA2: −/+

CA4, CA3, CA2, and CA1 prox. –

CA4, CA3 ++

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 ++

Layer 2 +/++

Layers 1–4 −/++ (FG)

Entorhinal cortex

Transentorhinal cortex: layers 2–6 +++

Transentorhinal cortex: layers 1–6 +++ (FG)

: layers 2,4 +++

Transentorhinal cortex

 

: layers 2–6 +++

Cerebellum

Molecular and granular layers −/+

Molecular and granular Layers – dentate nucleus +

Molecular layer ++/+++

Granular layer +/++

Dentate nucleus +

Dentate nucleus +

Midbrain

Periaqueductal gray and tegmentum + (FG)

Periaqueductal gray ++

Periaqueductal gray +

Tegmentum +

Tegmentum ++/+++

Substantia nigra

++/+++ (FG)

++

+/++

Medulla

Tegmentum ++ (FG)

Tegmentum +

Tegmentum +

Inf. olive ++/+++ (FG)

Inf. olive -

Inf. olive +

  1. a PrPSc 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 +++ PrPSc 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.