A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
Hereditary spastic paraplegia is a genetically and phenotypically heterogeneous disorder. Both pure and complicated forms have been described, with autosomal dominant, autosomal recessive, and X-linked inheritance. Various loci (SPG1-SPG6) associated with this disorder have been mapped. Here, we report linkage analysis of a large consanguineous family affected with autosomal recessive spastic paraplegia with age at onset of 25-42 years. Linkage analysis of this family excluded all previously described spastic paraplegia loci. A genomewide linkage analysis showed evidence of linkage to chromosome 16q24.3, with markers D16S413 (maximum LOD score 3.37 at recombination fraction [theta] of .00) and D16S303 (maximum LOD score 3.74 at straight theta=.00). Multipoint analysis localized the disease gene in the most telomeric region, with a LOD score of 4.2. These data indicate the presence of a new locus linked to pure recessive spastic paraplegia, on chromosome 16q24.3, within a candidate region of 6 cM.
De Michele
G
G
Department of Neurology, Federico II University, Naples, Italy.
De Fusco
M
M
Cavalcanti
F
F
Filla
A
A
Marconi
R
R
Volpe
G
G
Monticelli
A
A
Ballabio
A
A
Casari
G
G
Cocozza
S
S
D000328:Adult; D017668:Age of Onset; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008875:Middle Aged; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree
D005819:Genetic Markers