Cohort Studyhigh evidence
Population-scale repeat expansions elucidate disease risk and brain atrophy.
Nature·May 1, 2026·PMID 41951733
Why it mattersFor neurologists and pain-adjacent specialists, this study suggests that pathogenic repeat expansions may be detectable at scale from routine short-read sequencing and may show measurable neurodegenerative biomarker changes before overt disease. It supports earlier recognition and risk stratification in patients with suggestive neurologic phenotypes or family history.
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