G. Demichele et al., A NEW LOCUS FOR AUTOSOMAL RECESSIVE HEREDITARY SPASTIC PARAPLEGIA MAPS TO CHROMOSOME 16Q24.3, American journal of human genetics, 63(1), 1998, pp. 135-139
Hereditary spastic paraplegia is a genetically and phenotypically hete
rogeneous disorder. Both pure and complicated forms have been describe
d, with autosomal dominant, autosomal recessive, and X-linked inherita
nce. Various loci (SPG1-SPG6) associated with this disorder have been
mapped. Here, we report linkage analysis of a large consanguineous fam
ily affected with autosomal recessive spastic paraplegia with age at o
nset of 25-42 years. Linkage analysis of this family excluded all prev
iously described spastic paraplegia loci. A genomewide linkage analysi
s showed evidence of linkage to chromosome 16q24.3, with markers D16S4
13 (maximum LOD score 3.37 at recombination fraction [theta] of .00) a
nd D16S303 (maximum LOD score 3.74 at theta = .00). Multipoint analysi
s 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 t
o pure recessive spastic paraplegia, on chromosome 16q24.3, within a c
andidate region of 6 cM.