This website provides information on patients with an intronic GAA repeat expansion in the FGF14 gene, including clinical data, molecular data, management and research options.

The syndrome caused by the GAA repeat expansion in the FGF14 gene is characterized by:
•    Mid- to late adult-onset slowly progressive cerebellar syndrome with predominant gait impairment.
•    Episodic symptoms that may include ataxia, dysarthria, vertigo, and diplopia. Episodic symptoms are particularly common at disease onset.
•    Cerebellar oculomotor signs, such as downbeat nystagmus, horizontal gaze-evoked nystagmus, impaired visual fixation suppression of the vestibulo-ocular reflex, and dysmetric saccades.
•    Visual symptoms, such as oscillopsia, diplopia, and visual blurring.
•    Vertigo and/or dizziness.

Not all individuals carrying a GAA repeat expansion in the FGF14 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with a GAA repeat expansion in the FGF14 gene.

Pablo Iruzubieta, MD, PhD, Donostia University Hospital, Biogipuzkoa Health Research Institute, San Sebastian, Spain, pablo.iruzubieta@hotmail.es

David Pellerin, MD, MSc, FRCPC, Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, Montreal, Canada, London, United Kingdom, david.pellerin.21@ucl.ac.uk

Matt C Danzi, PhD, Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Fl, USA, m.danzi@med.miami.edu

Stephan Zuchner, MD, PhD, Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Fl, USA, szuchner@tgp-foundation.org

Bernard Brais, MDCM, PhD, FRCPC, Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University; Department of Human Genetics, McGill University, Montreal, Canada, bernard.brais@mcgill.ca