Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6

Alexander disease is an autosomal dominant hereditary disease characterized by progressive spastic paraplegia, ataxia, and bulbar symptoms caused by mutations in the glial fibrillary acidic protein (GFAP) gene. Previous nation-wide surveillance revealed that the prevalence rate in Japan is estimated at 1 in 2.7 million people.1 Meanwhile, SCA6 is an autosomal dominant spinocerebellar ataxia characterized by adult-onset pure cerebellar ataxia. The prevalence of SCA6 is estimated to be 1 in 100,000 people in Japan.2 Here, we report an extremely rare case presenting with a blended phenotype of adult-onset Alexander disease and SCA6.

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