{Reference Type}: Case Reports
{Title}: Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature.
{Author}: Lin HC;Chang YY;Chang KH;Chen YF;Lan MY;
{Journal}: Clin Neurol Neurosurg
{Volume}: 172
{Issue}: 0
{Year}: 09 2018
{Factor}: 1.885
{DOI}: 10.1016/j.clineuro.2018.06.037
{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.