Mappingofacomplicated familial spastic paraplegia tolocus SPG4onchromosome 2p

Autosomaldominantfamilial spastic paraplegia (AD-FSP)isa degenerative disorder ofthecentral motor system characterised byprogressive spasticity of thelowerlimbs. AD-FSPhasbeendivided intopureandcomplicated forms.Pure AD-FSP isgenetically heterogeneous; threelocihavebeenmappedtochromosomes14q(SPG3), 2p (SPG4), and15q (SPG6), whereasno lociresponsible for complicated formshavebeenidentified to date. Herewereportlinkage totheSPG4 locusina threegeneration familywith AD-FSP complicated by dementiaand epilepsy. Assumingthatbothformsof AD-FSParecausedbymutations involvingthesameFSPgene,analysis ofrecombination events inthisfamily positions the SPG4genewithin a0cM interval flanked bylociD2S2255andD2S2347. (JMedGenet1998;35:89-93)

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