Short tandem repeat expansions in patients with neurodegenerative dementia - PubMed
3 hours ago
- #Short tandem repeat
- #Neurodegenerative dementia
- #Whole-genome sequencing
- Short tandem repeat (STR) expansions are investigated in neurodegenerative dementia (NDD) patients.
- Study includes 950 AD, 222 FTD, 165 DLB, 231 PSP patients, and 1522 controls using whole-genome sequencing.
- ExpansionHunter and ExpansionHunter Denovo (EHDn) used to detect STR expansions, improving C9orf72 detection.
- 33 pathogenic expansions identified in nine genes among NDD patients, accounting for 2.12% of cases.
- Pathogenic STR expansions significantly associated with NDD status (OR = 3.57, p = 4.70 × 10-2).
- Intermediate-length TBP alleles enriched in PSP compared to controls (2.61% vs 0.54%; OR = 6.25, p = 2.00 × 10-2).
- Findings support the clinical pleiotropy of STRs in NDD and their role in pathogenesis.