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  • Title: Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees.
    Author: De Jonghe P, Krols L, Michalik A, Hazan J, Smeyers G, Löfgren A, Weissenbach J, Martin JJ, Van Broeckhoven C.
    Journal: Eur J Hum Genet; 1996; 4(5):260-6. PubMed ID: 8946171.
    Abstract:
    We ascertained 9 multigeneration Belgian families with pure dominant spastic paraplegia (SPG) for clinical and genetic studies. Linkage was examined using simple tandem repeat (STR) markers located near the 5 loci for familial SPG on chromosomes Xq28 (SPG1), Xq21.3-q22 (SPG2), 2p21-p24 (SPG4), 14q12-q23 (SPG3) and 15q11.1 (SPG6). Positive linkage results were obtained only for markers at the SPG4 locus mapping the SPG4 gene between D2S400 and D2S367, a region of 4 cM. In order to facilitate the positional cloning of the SPG4 gene, we constructed a contiguous YAC map covering the SPG4 candidate region. Our physical mapping data indicate that the SPG4 gene resides within maximal 5 Mb.
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