This family shows pure bvFTD without muscle or bone involvement despite having VCP mutations that typically cause multisystem disease. The mechanistic basis for this phenotypic selectivity is unknown and critical for understanding VCP pathogenesis. Gap type: unexplained_observation Source paper: A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family. (2021, Frontiers in genetics, PMID:34917136)
Landscape Summary: What molecular mechanisms determine why VCP mutations cause isolated FTD versus multisystem IBMPFD? is a 0.8 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.
Colonna, Sevlever, et al. (TREM2 biology)
What molecular mechanisms determine why VCP mutations cause isolated FTD versus multisystem IBMPFD? — INVOKE-2 (completed)
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