Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees.
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.
De Jonghe
P
P
Laboratory of Neurogenetics, Flanders Interuniversity Institute of Biotechnology, Born-Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry, Belgium.
Krols
L
L
Michalik
A
A
Hazan
J
J
Smeyers
G
G
Löfgren
A
A
Weissenbach
J
J
Martin
J J
JJ
Van Broeckhoven
C
C
D001530:Belgium; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002883:Chromosomes, Human, Pair 14; D002884:Chromosomes, Human, Pair 15; D002889:Chromosomes, Human, Pair 2; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome