Spinocerebellar Ataxia 28 Presenting as Predominantly Generalized Dystonia

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

“…1,2 Carriers of compound heterozygous AFG3L2 variants may demonstrate other features including ptosis, optic atrophy, external ophthalmoplegia, generalized dystonia, and lingual dyskinesia. [3][4][5] Here, we report an individual with a rare compound heterozygous AFG3L2 variant who uniquely presented with spasmodic dysphonia, along with other typical features of ATX-AFG3L2.…”

“…Dystonia is known to occur in several hereditary ataxias (eg, ATX-ATXN3, ATX-TBP, ATX-ATN1), 8 and has been documented in ATX-AFG3L2, although previous cases mainly reported neck, trunk, or limb involvement. 2,5 Spasmodic dysphonia has been described in other forms of hereditary ataxia including ATX-PPP2R2B and SCA20, 10,11 but its exact genetic and pathophysiological underpinnings remain unknown. Nevertheless, our report raises awareness of this feature as part of the clinical expression of ATX-AFG3L2.…”