| Literature DB >> 8252041 |
J Hazan1, C Lamy, J Melki, A Munnich, J de Recondo, J Weissenbach.
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.Entities:
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Year: 1993 PMID: 8252041 DOI: 10.1038/ng1093-163
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330