Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).

Date publication

février 2024

Journal

Neurology. Genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Dr BONNET Céline

Tous les auteurs :
Foucard C, Belley M, Sangare A, Bonnet C, Renaud M, Roze E

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/38170134

Résumé

Paroxysmal ataxia is typically characterized by early-onset attacks of cerebellar ataxia. Late-onset cerebellar ataxia (LOCA) comprises a group of neurodegenerative disorders mainly characterized by adult-onset progressive cerebellar ataxia. A deep intronic expansion of a GAA triplet in the gene encoding fibroblast growth factor 14 has recently been identified as a frequent cause of LOCA.

Référence

Neurol Genet. 2024 02;10(1):e200118