AUTOSOMAL-DOMINANT FAMILIAL SPASTIC PARAPLEGIA IS GENETICALLY HETEROGENEOUS AND ONE LOCUS MAPS TO CHROMOSOME-14Q

Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spastici ty of the legs. Three families with autosomal dominant FSP of early on set were analysed in linkage studies using highly polymorphic microsat ellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z=10) was observed in one family. This ch romosome 14q candidate region was entirely excluded in the two other f amilies, providing evidence of genetic heterogeneity within a homogene ous clinical form of FSP.