The objective of our study will be to describe the clinical and genotypic phenotype of patients with GAA-FGF14. We wish to describe the precise clinical phenotype by detailing each patient's clinical examination, medical history, treatment history, frequency and symptomatology of episodes, MRI radiological data, otho-rihno-laryngeal examination data etc . We would also like to describe the precise genotype for each patient, specifying the number of GAA expansions and its characteristics.
Cerebellar ataxias of late onset are of undetermined etiology in many cases. A new cause of late-onset cerebellar ataxia was discovered in January 2023 corresponding to an expansion of GAA triplets in intron 1 of the FGF14 gene.~However, this cerebellar ataxia is still poorly known and requires further investigations to know its clinical phenotype and its evolution in order to propose a diagnosis and a genetic counseling adapted to patients and families. The objective of our study will be to describe the clinical and genotypic phenotype of patients with GAA-FGF14