Clinical Research Directory

Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study

Sponsor: Central Hospital, Nancy, France

Summary

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

Official title: Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study on Late Onset Ataxia Related to a GAA Expansion in the FGF14 Gene

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