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. 1998 Jul;63(1):135–139. doi: 10.1086/301930

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.

G De Michele 1, M De Fusco 1, F Cavalcanti 1, A Filla 1, R Marconi 1, G Volpe 1, A Monticelli 1, A Ballabio 1, G Casari 1, S Cocozza 1
PMCID: PMC1377251  PMID: 9634528

Abstract

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.

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Selected References

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