Article
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Clinical genetics - 1 Apr 2024
Kartanou Chrisoula, Mitrousias Alexandros, Pellerin David, Kontogeorgiou Zoi, Iruzubieta Pablo, Dicaire Marie-Josée, Danzi Matt C, Koniari Chrysoula, Athanassopoulos Konstantinos, Panas Marios, Stefanis Leonidas, Zuchner Stephan, Brais Bernard, Houlden Henry, Karadima Georgia, Koutsis Georgios
Abstract excerpt
A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (FGF14) has been recently identified as the cause of spinocerebellar ataxia 27B (SCA27B). We herein screened 160 Greek index cases with late-onset cerebellar ataxia (LOCA) for FGF14 repeat expansions using a combination of long-range PCR and bidirectional repeat-primed PCRs. We identified 19 index cases (12%) carrying a...
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