The novel D395A variant causes early-onset FTD without systemic features, but the relationship between this specific mutation's biochemical effects and tissue-selective pathology remains unexplained. This gap limits genotype-phenotype prediction. 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: How does the D395A mutation's location/properties relate to the selective neurodegeneration pattern? is a 0.83 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.
Colonna, Sevlever, et al. (TREM2 biology)
How does the D395A mutation's location/properties relate to the selective neurodegeneration pattern? — INVOKE-2 (completed)
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