PSP‐Like Phenotype in Genetically Confirmed SCA12.

PSP-Like Phenotype in Genetically Confirmed SCA12 Keywords: SCA12; PSP; atypical parkinsonism; DaTSCAN EN SCA12 PSP atypical parkinsonism DaTSCAN 326 328 3 02/23/23 20230201 NES 230201 Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansions in the protein phosphatase 2 regulatory subunit B beta (PPP2R2B) gene in chromosome 5q.[1] The prevalence of SCA12 is high in Northern parts of India because of the common founder effect, and most of the affected families belong to the Agrawal community.[2] The commonest presenting symptom of SCA12 is the action tremors of upper limbs, which may precede the ataxia by many years.[[3]] Phenotypic spectrum of SCA12 also includes various non-ataxic manifestations, such as dystonia, parkinsonism, and cognitive impairment.[[1], [3]] Rarely, SCA12 can present as an "atypical atypical parkinsonism" and pose a diagnostic challenge.[5] A 61-year-old man from Punjab, India, presented with a history of progressive difficulty in walking, which worsened over the past 3 years with episodes of frequent falls. One should consider SCA12 in the differential diagnosis of atypical atypical parkinsonism with a PSP-like phenotype in a patient of ethnic origin where SCA12 is prevalent, even in the absence of family history. [Extracted from the article]