Population-scale repeat expansions elucidate disease risk and brain atrophy - PubMed

5 hours ago

This study analyzed repeat expansions in 37 disease-associated STR loci using short-read sequencing data from 1,020,833 samples.
Pathogenic repeat expansions were found to be more frequent than disease prevalence, with associations identified for known conditions like Huntington's disease.
Repeat expansions in loci such as HTT and CACNA1A were linked to increased neurofilament light chain levels and significant brain volume loss in specific regions.
The findings indicate that brain volume loss and elevated NfL levels occur prior to clinical diagnosis, highlighting potential early biomarkers for neurological diseases.

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