Neuronal intermediate filament inclusion disease may be incorrectly classified as a subtype of FTLD-FUS.

ABSTRACT: The majority of cases of frontotemporal lobar degeneration (FTLD) are characterized by focal cortical atrophy with an underlying tau or TDP-43 proteinopathy. A subset of FTLD cases, however, lack tau and TDP-43 immuno-reactivity, but have neuronal inclusions positive for ubiquitin, referred to as atypical FTLD (aFTLD-U). Studies have demonstrated that ubiquitin-positive inclusions in aFTLD-U are immuno-reactive for fused in sarcoma (FUS). As such, the current nosology for this entity is FTLD-FUS, which is thought to include not only aFTLD-U, but also neuronal intermediate filament inclusion disease (NIFID) and basophilic inclusion body disease. To compare pathological features of cases of aFTLD-U and NIFID. We reviewed the neuropathology of 15 patients (10 males and 5 females; average age

SUBMITTER: Bieniek KF 

PROVIDER: S-EPMC8356202 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature