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Table 2 Semiquantitative analysis of neurodegeneration and TDP-ir pathology in TIA1 mutation carriers

From: Clinical and neuropathological features of ALS/FTD with TIA1 mutations

 

Neurodegeneration

TDP-43 Immunohistochemistry

NWU-1

TOR-1

UBCU2-14

UBCU2-1

ALS752-1

NWU-1

TOR-1

UBCU2-14

UBCU2-1

ALS752-1

FTD, ALS

FTD, prob. ALS

FTD, prob. ALS

ALS, early FTD

ALS

FTD, ALS

FTD, prob. ALS

FTD, prob. ALS

ALS, early FTD

ALS

pyramidal motor system

motor cortex

+

+

+

++

+

+

++

+

+

+++

CN XII

+++

++

+++

++

+++

++

+++

++

++

++

CST

++

+

+++

++

++

n/a

n/a

n/a

n/a

n/a

ant. horn

++

++

+++

+++

+++

++

++

+++

+++

+++

neocortex

prefrontal

++

+

+++

++

+++

+++

+++

+++

++

temporal

+

+

++

+

++

++

++

++

++

parietal

++

+

+++

++

++

++

+

striatonigral system

caudate

+

++

+

+

++

+++

+++

+++

putamen

+

+

++

+++

+

GP

+

+

+

+

+

SN

+++

+

+++

++

++

++

++

+++

+++

++

limbic system

hip. CA

+

+

+

+

+

hip. dentate

++

+

++

+++

++

++

++

thalamus

 

+

+

+

+

midbrain

PAG

+

++

+

+

+

++

+

+

cerebello-pontine system

cb cortex

cb dentate

+

basis pontis

+

+

+

  1. The patients are ordered according to their earliest and/or predominant clinical features from predominant FTD (left) to pure ALS (right). ALS amyotrophic lateral sclerosis, ant. anterior, cb cerebellar, CA cornu ammonis, CN XII twelfth cranial nerve (hypoglossal) nucleus, CST corticospinal tract, deg. non-specific changes of chronic degeneration, FTD frontotemporal dementia, GP globus pallidus, hip. hippocampal, n/a not applicable, PAG periaqueductal grey matter, prob. probable, SN substantia nigra. Semiquantitative grading of pathology; −, none; +, mild; ++, moderate; +++, severe