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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