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  • Title: Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
    Author: Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J.
    Journal: Nat Genet; 1993 Oct; 5(2):163-7. PubMed ID: 8252041.
    Abstract:
    Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spasticity of the legs. Three families with autosomal dominant FSP of early onset were analysed in linkage studies using highly polymorphic microsatellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z = 10) was observed in one family. This chromosome 14q candidate region was entirely excluded in the two other families, providing evidence of genetic heterogeneity within a homogeneous clinical form of FSP.
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