A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3.
Muglia
Maria
M
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
Magariello
Angela
A
Nicoletti
Giuseppe
G
Patitucci
Alessandra
A
Gabriele
Anna Lia
AL
Conforti
Francesca Luisa
FL
Mazzei
Rosalucia
R
Caracciolo
Manuela
M
Casari
Giorgio
G
Ardito
Bonaventura
B
Lastilla
Marcello
M
Gambardella
Antonio
A
Quattrone
Aldo
A
D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology
D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins