The abstract notes that CHCHD10 mutations can variably associate with FTD, ALS, cerebellar ataxia, myopathy, and hearing impairment, but the factors determining this phenotypic heterogeneity are unclear. Resolving this could explain disease spectrum variability and predict clinical outcomes. Gap type: open_question Source paper: Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. (2014, Neurobiology of aging, PMID:25155093)
Landscape Summary: What determines the variable phenotypic expression of CHCHD10 mutations across different neurodegenerative diseases? is a 0.76 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.
Colonna, Sevlever, et al. (TREM2 biology)
What determines the variable phenotypic expression of CHCHD10 mutations across different neurodegenerative diseases? — INVOKE-2 (completed)
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