SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q

The authors studied two families with autosomal recessive hereditary spasti c paraplegia (HSP) complicated by the presence of additional symptoms of pi gmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual deterioration. Evidence was obtained for linkage to a locus on chromosome 14q that is distinct from the SPG3 locus for autosomal dominant HSP (D14S77: lod score of 4.20 at zero recombination). Haplotype construction of nearby markers confirms the existence of this novel HSP loc us (SPG15) and narrows it to a 19-cM interval flanked by D14S1038 and D14S6 1.