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Table 2 Clinical and neuropathologic features of patients harboring ANXA11 mutation

From: A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features

  Present patient Patient with p.D40G [6] Patient with p.G38R [7]
Clinical features
Age at onset (years) 57 72 60’sa
Disease duration (months) 19 36 naa
Initial symptom Limb Bulbar Limb
Cognitive impairment or FTD +
Neuropathologic phenotype ALS-TDP ALS-TDP ALS-TDP with FTLD-TDP type A
Neuronal loss
Motor cortex + na +
Lower motor neurons + + na
Frontotemporal cortex na +
Degeneration of CST + + +
Bunina body + na +
pTDP-43-ir NCIs/GCIs +/+ +/na +/+
Annexin A11-ir NCIs/GCIs +/few +/na +/na
Morphology of annexin A11-ir NCIs Skein-like, filamentous, small round Skein-like, filamentous, large-caliber and tube-shaped, large basket-like Tube-shaped, large conglomerate, large round
Co-localization of pTDP-43 and annexin A11 − or + − or +
  1. +, present; −, absent; a, among 3 patients harboring p.G38R ANXA11 mutation, the autopsied patient was not identified in the reference [7]; FTD, frontotemporal dementia; ALS, amyotrophic lateral sclerosis; FTLD, frontotemporal lobar degeneration; na, not available; CST; corticospinal tract; pTDP-43, phosphorylated 43 kDa TAR DNA-binding protein; ir, immunoreactive