Mutation, metal and misfiring immunity: A case of spinocerebellar ataxia 45 with autoimmune and Wilsons crossroads

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Spinocerebellar Ataxia type 45 is a rare autosomal dominant neurodegenerative disorder caused by FAT2 gene mutations primarily affecting the cerebellum. Until now only six cases were described worldwide, including one from India. They presented predominantly with late onset cerebellar ataxia. We present a unique case of 45-year-old female with FAT2 gene mutation, presenting with cerebellar ataxia, proximal weakness and extrapyramidal symptoms. Her investigations revealed ATP7B mutation linked to Wilson disease, and ANA, Ro-52 positivity additionally. This case highlights the complex genetic and autoimmune overlap, as well as possible SCA 45 phenotypic spectrum.