The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient

Türkdoğan et al. (2025) used Genomize-SEQ to identify the first autosomal recessive FGF14 variant expanding ATX-FGF14/SCA27A beyond its established autosomal dominant spectrum.