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Article

DNA methylation as a contributor to dysregulation of STX6 and other frontotemporal Lobar degeneration genetic risk-associated loci.

Acta neuropathologica communications - 5 Jul 2025

Rambarack Naiomi, Fodder Katherine, Murthy Megha, Toomey Christina, de Silva Rohan, Heutink Peter, Humphrey Jack, Raj Towfique, Lashley Tammaryn, Bettencourt Conceição

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) represents a spectrum of clinically, genetically, and pathologically heterogeneous neurodegenerative disorders. The two major FTLD pathological subgroups are FTLD-TDP and FTLD-tau. While the majority of FTLD cases are sporadic, heterogeneity also exists within the familial cases, typically involving mutations in MAPT, GRN or C9orf72, which is not fully explained by known...

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Identifiers

PMID: 40618089
DOI: 10.1186/s40478-025-02071-3
PMCID: PMC12228266

Genes

STX6
GRN
MAPT

Provenance

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