Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree.
Starling
A
A
Rocco
P
P
Passos-Bueno
M R
MR
Hazan
J
J
Marie
S K
SK
Zatz
M
M
D000251:Adenosine Triphosphatases / Q000235:genetics*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012727:Sex Characteristics; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human