%0 Case Reports
%T Spastic paraparesis as the first manifestation of Machado-Joseph disease: A case report and review of the literature.
%A Lin HC
%A Chang YY
%A Chang KH
%A Chen YF
%A Lan MY
%J Clin Neurol Neurosurg
%V 172
%N 0
%D 09 2018
%M 30007589
%F 1.885
%R 10.1016/j.clineuro.2018.06.037
%X 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.