A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions - PubMed
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- #genetics
- #frontotemporal dementia
- #neurodegenerative disease
- A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U).
- The study identified a major risk locus on chr15q14 through a genome-wide association study involving 59 aFTLD-U cases and 3,153 controls.
- Long CT-dimer expansions in GOLGA8A are strongly associated with aFTLD-U, found in nearly 60% of cases.
- The functional consequence of the GOLGA8A repeat expansion remains unknown, but it plays a fundamental role in disease pathogenesis.
- Several authors have conflicts of interest, including patents and consulting fees related to neurodegenerative diseases.
- Funding for the study was provided by multiple grants from the U.S. National Institute of Neurological Disorders and Stroke (NINDS).