Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study

Overview

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

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.

Conditions

Interventions

Eligibility

Locations (1)

Outcomes