Figure 3: The molecular and genetic classification of frontotemporal lobe degeneration. Three distinct neuropathologic categories may be identified based on the molecular pathology of the misfolded protein within the inclusion: FTLD-Tau, FTLD-TDP, and FTLD-FUS; the molecular pathology of a fourth category, FTLD with epitopes of the ubiquitin–proteasome system (FTLDUPS), remains indeterminate. 3R, 4R, 3R/4R the predominant tau isoform within the inclusion; PICK, Pick’s disease; FTLD with microtubule-associated protein tau (MAPT) mutation with inclusions of 3R, 4R, or 3R and 4R tau protein; CBD, corticobasal degeneration; PSP, progressive supranuclear palsy; AGD, argyrophilic grain disease; TOD, tangle only dementia; WMT-GGI, white matter tauopathy with globular glial inclusions; FTLD-U, FTLD with ubiquitin inclusions, now called FTLD-TDP; FTLD with progranulin (GRN) mutation; FTLD with TAR DNA-binding protein 43 (TARDBP) gene mutation; FTLD with valosin-containing protein (VCP) mutation; FTLD with C9ORF72 expansion, chromosome 9-linked FTLD with C9ORF72 hexanucleotide repeat expansion; NIFID neuronal intermediate filament inclusion disease; aFTLD-U atypical FTLD with ubiquitin inclusions; BIBD basophilic inclusion body disease; FTLD with fused in sarcoma (FUS) mutation; FTLD with charged multivesicular body protein 2B (CHMP2B) mutation. There may still be unclassified entities within each molecular pathology grouping. Reproduced with permission from [160].
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