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Table 1 Distribution of lesions in the present case

From: Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer’s disease with cotton wool plaques due to a novel presenilin1 G417S mutation

  Neuronal loss/gliosis Aβ deposits/CWPs NFTs Lewy bodies/Lewy neurites TDP-43 positive NCIs/short neurites
Primary motor cortex +++ +++++/+++ ++++ −/− −/−
Superior frontal gyrus +++ +++++/+++++ ++++ −/− −/−
Middle frontal gyrus +++ +++++/++++ ++++ −/− −/−
Inferior frontal gyrus +++ +++++/++++ ++++ −/− −/−
Frontal white matter +++ ++/− −/− −/−
Superior temporal gyrus +++ +++++/+++++ ++++ −/− −/−
Middle temporal gyrus +++ +++++/+++++ ++++ −/− −/−
Inferior temporal gyrus +++ +++++/+++++ ++++ ++/++ +/+
Lateral occipitotemporal gyrus +++ +++++/+++++ ++++ +/++ ++/+
Temporal white matter +++ ++++/− −/− −/−
Parietal cortex +++ +++++/++++ ++++ −/− −/−
Parietal white matter +++ ++++/− −/− −/−
Occipital cortex +++ ++++/+++ ++++ −/− −/−
Occipital white matter +++ ++++/− −/− −/−
Entorhinal cortex +++ +++++/++++ ++++ +++/++++ ++++/−
Hippocampal CA1 +++ +++++/++++ ++++ +/− ++++/−
Amygdala + +++++/++++ +++++ ++++/++++ ++++/++
Caudate nucleus +++ +++++/+++++ ++++ −/− −/−
Putamen +++ +++++/+++++ +++++ −/− −/−
Globus pallidus +++ ++/− ++++ −/− −/−
Subthalamic nucleus n.a. n.a. n.a. n.a. n.a.
Oculomotor nucleus −/− ++ −/− −/−
Substantia nigra +++ +/− ++++ −/+ −/−
Frontopontine tract +/− −/− −/−
Corticospinal tract
 at level of cerebral peduncle +++ −/− −/− −/−
 at level of pons +++ −/− −/− −/−
 at level of medulla oblongata +++ −/− −/− −/−
Locus coeruleus ++ +/− ++ +/− −/−
Pontine nucleus ++/− +++ −/− −/−
Superior cerebellar peduncle −/− −/− −/−
Transverse pontine fibers −/− −/− −/−
Dorsal vagal nucleus + +/− ++ −/− −/−
Hypoglossal nucleus +/− −/− −/−
Inferior olivary nucleus +/+ −/− −/−
Cerebellum
 Molecular layer + ++++/− −/− −/−
 Purkinje cell layer ++/− −/− −/−
 Granular layer ++++/− −/− −/−
 Dentate nucleus +++++/− +++ −/− −/−
 White matter ++ +/− −/− −/−
Spinal cord
 Anterior horn ++/− −/− −/−
 Corticospinal tract +++ +/− −/− −/−
  1. Neuronal loss -: none, +: mild, ++: moderate, +++: severe. The severity of the degeneration of the tract was evaluated with the following system using hematoxylin-eosin and Klüver-Barrera stains: - (no degeneration), neither loss of myelin nor glial proliferation was found; + (mild degeneration), slight myelin loss and gliosis without atrophy of the tract; ++ (moderate degeneration), evident myelin loss and gliosis with slight atrophy of the tract; +++ (severe degeneration), evident myelin loss and gliosis with severe atrophy of the tract. Aβ deposits and cotton wool plaques (CWPs) were semiquantitatively evaluated with the following staging system using 12B2 immunohistochemistry: -, no lesion; ±, one lesion in each anatomical region; +, one lesion per ×200 visual field; ++, 2 to 10 lesions per × 200 visual field; +++, 11 to 20 lesions per × 200 visual field; ++++, 21 to 50 lesions per × 200 visual field; +++++, 51 or more lesions per × 200 visual field. AT-8 positive neurofibrillary tangles (NFTs), Lewy body, Lewy neurites, TDP-43 positive neuronal cytoplasmic inclusions (NCIs), and TDP-43 positive short neurites were semiquantitatively evaluated with the following staging system using AT8, pSyn#64, and pS409/410–2 immunohistochemistry, respectively: -, no lesion; +, one lesion in the anatomical region; ++, two to four lesions in the anatomical lesion but less than one lesion per × 200 visual field; +++, one lesion per × 200 visual field; ++++, 2 to 10 lesions per × 200 visual field; +++++, over 11 lesions per × 200 visual field. n.a., not available