학술논문
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsResearch in context
Document Type
article
Author
Jean-Loup Méreaux; Claire-Sophie Davoine; David Pellerin; Giulia Coarelli; Marie Coutelier; Claire Ewenczyk; Marie-Lorraine Monin; Mathieu Anheim; Isabelle Le Ber; Stéphane Thobois; Florent Gobert; Léna Guillot-Noël; Sylvie Forlani; Ludmila Jornea; Anna Heinzmann; Aude Sangare; Bertrand Gaymard; Lucie Guyant-Maréchal; Perrine Charles; Cecilia Marelli; Jérôme Honnorat; Bertrand Degos; François Tison; Sophie Sangla; Marion Simonetta-Moreau; François Salachas; Maya Tchikviladzé; Giovanni Castelnovo; Fanny Mochel; Stephan Klebe; Anna Castrioto; Silvia Fenu; Aurélie Méneret; Frédéric Bourdain; Marion Wandzel; Virginie Roth; Céline Bonnet; Florence Riant; Giovanni Stevanin; Sandrine Noël; Anne-Laure Fauret-Amsellem; Melanie Bahlo; Paul J. Lockhart; Bernard Brais; Mathilde Renaud; Alexis Brice; Alexandra Durr
Source
EBioMedicine, Vol 99, Iss , Pp 104931- (2024)
Subject
Language
English
ISSN
2352-3964
Abstract
Summary: Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability. Methods: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with familial essential tremor. Findings: A higher frequency of expanded allele carriers in index cases with ataxia was significant only above 300 GAA repeats (10.1%, n = 85) compared with controls (1.1%, n = 5) (p