What's in a name? Neuronal intermediate filament inclusion disease (NIFID), frontotemporal lobar degeneration-intermediate filament (FTLD-IF) or frontotemporal lobar degeneration-fused in sarcoma (FTLD-FUS)?

摘要

Neuronal intermediate filament inclusion disease (NIFID) is a neurodegenerative disorder of a heterogeneous clinical pheno-type, encompassing behavioural changes, language impairment, perseveration, executive dysfunction with or without early onset dementia, extrapyramidal features, and subclinical or clinical involvement of upper and lower motor neurons, with age at onset of reported cases ranging from 23 to 56 years (table l). NIFID was initially characterised neuropathologically on the basis of intraneuronal cytoplasmic inclusions of variable morphology which immunostained for all class IV intermediate filament (IF) proteins, namely NF-H, NF-M, NF-L and alpha-internexin.