Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clement, Sophie Planel, Celine Bonnet, Phillipa Lamont, Karthik Kulanthaivelu, Atchayaram Nalini, Henry Houlden, Antoine Duquette, Marie-Josee Dicaire, Pablo Iruzubieta Agudo, Javier Ruiz Martinez, Enrique Marco de Lucas, Rodrigo Sutil Berjon, Jon Infante Ceberio, Elisabetta Indelicato, Sylvia Boesch, Matthis Synofzik, Benjamin Bender, Matt C Danzi, Stephan Zuchner, David Pellerin, Bernard Brais, Mathilde Renaud, Roberta La Piana
Background and Objectives GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset cerebellar ataxia (LOCA) caused by a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies reviewing MR images of GAA-FGF14 ataxia patients revealed variable degree of cerebellar atrophy in 74-97% of them. A more detailed brain imaging characterization of GAA-FGF14 ataxia is now needed to provide 1) supportive diagnostic features and earlier disease recognition and 2) further information about the pathophysiology of the disease...
February 18, 2024: medRxiv