Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX‐AFG3L2).

Keywords: spasmodic dysphonia; ATX-AFG3L2; SCA28; AFG3L2; ataxia EN spasmodic dysphonia ATX-AFG3L2 SCA28 AFG3L2 ataxia 1024 1026 3 06/20/23 20230601 NES 230601 Heterozygous pathogenic variants in ATPase family gene 3-like 2 ( I AFG3L2 i ) gene are associated with autosomal dominant cerebellar ataxia (ATX- I AFG3L2 i ), previously known as spinocerebellar ataxia type 28, which typically presents with slowly progressive cerebellar ataxia, dysarthria, oculomotor abnormalities, and pyramidal signs.[[1]] Carriers of compound heterozygous I AFG3L2 i variants may demonstrate other features including ptosis, optic atrophy, external ophthalmoplegia, generalized dystonia, and lingual dyskinesia.[[3], [5]] Here, we report an individual with a rare compound heterozygous I AFG3L2 i variant who uniquely presented with spasmodic dysphonia, along with other typical features of ATX- I AFG3L2 i . Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX-AFG3L2) ATX-AFG3L2, spasmodic dysphonia, AFG3L2, SCA28, ataxia. [Extracted from the article]