Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature

Abstract Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, is characterized by remarkable clinical heterogeneity. We present a MJD family in which variable phenotypes were noted in affected members, including one presenting predominantly with spastic paraparesis. A review of the literature revealed that MJD with the initial presentation of spastic paraparesis is more frequently observed in cases of eastern Asian origin who carry a greater CAG expansions in the ATXN3 gene. A greatly expanded allele in ATXN3 combined with an eastern Asian genetic background is associated with a phenotype of spastic paraparesis in MJD.