Novel syndromic form of X-linked complicated spastic paraplegia

This study presents a family with a syndromic form of X-linked mental retar dation in which four males in two generations present severe mental retarda tion, slowly progressive spastic paraplegia, facial hypotonia, and maxillar y hypoplasia. Multipoint linkage analysis with 24 highly polymorphic marker s indicated two possible candidate regions: Xp21.1-Xq21.3 (flanking markers DXS1214 and DXS990) and Xq23-Xq27.1 (flanking markers DXS8020 and DXS984). The two known loci for X-linked mental retardation and spastic paraplegia are excluded: proteolipid protein in Xp21 and L1 cell adhesion molecule in Xq28, Therefore, the syndrome in this family appears to represent a previou sly undescribed X-linked spastic paraplegia-mental retardation syndrome. (C ) 2000 Wiley-Liss, Inc.