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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