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Distinguishing post‐translational modifications in dominantly inherited frontotemporal dementias: FTLD‐TDP Type A (GRN) vs Type B (C9orf72)

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Frontotemporal dementias are neuropathologically characterised by frontotemporal lobar degeneration (FTLD). Intraneuronal inclusions of transactive response DNA‐binding protein 43 kDa (TDP‐43) are the defining pathological hallmark of approximately half of the FTLD… Click to show full abstract

Frontotemporal dementias are neuropathologically characterised by frontotemporal lobar degeneration (FTLD). Intraneuronal inclusions of transactive response DNA‐binding protein 43 kDa (TDP‐43) are the defining pathological hallmark of approximately half of the FTLD cases, being referred to as FTLD‐TDP. The classification of FTLD‐TDP into five subtypes (Type A to Type E) is based on pathologic phenotypes; however, the molecular determinants underpinning the phenotypic heterogeneity of FTLD‐TDP are not well known. It is currently undetermined whether TDP‐43 post‐translational modifications (PTMs) may be related to the phenotypic diversity of the FTLDs. Thus, the investigation of FTLD‐TDP Type A and Type B, associated with GRN and C9orf72 mutations, becomes essential.

Keywords: translational modifications; post translational; ftld tdp; frontotemporal dementias; type

Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2022

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