Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Chelban V, Pellerin D, Vijiaratnam N, Lee H, Goh YY, Brown L, Sambin S, Seilhean D, Lehericy S, Iruzubieta P, Mohammad R, Self E, Scardamaglia A, Lee C, Ostrozovicova M, Dicaire MJ, Girges C, Gustavsson EK, Murphy D, Curless T, Laß J, Trinh J, Rittman T, Rowe JB, Hadjivassiliou M, Archibald N, Danzi MC, Ashton C, Roth V, Wandzel M, Cheung WA, Gveric DO, De Vil B, Follett J, Leigh PN, Beichert L, Pastinen T, Bonnet C, Renaud M, Meissner WG, Sieben A, Crosiers D, Cras P, Zuchner S, Corvol JC, Farrer MJ, Synofzik M, Brais B, Warner T, Morris HR, Jaunmuktane Z, Foltynie T, Houlden H.
Chelban V, et al.
Brain. 2025 Sep 3;148(9):3252-3265. doi: 10.1093/brain/awaf134.
Brain. 2025.
PMID: 40239008
Free PMC article.
The FGF14 repeat locus was genotyped using long-range PCR and bidirectional repeat-primed PCRs, and expansions were confirmed with targeted long-read Oxford Nanopore Technologies sequencing. ...Therefore, screening for FGF14 GAA TTC repeat expansion should be considered fo …
The FGF14 repeat locus was genotyped using long-range PCR and bidirectional repeat-primed PCRs, and expansions were confirmed with ta …