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

Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti, Alessandro Filla, Roberto Marconi, Giampiero Volpe, Antonella Monticelli, Andrea Ballabio, Giorgio Casari, Sergio Cocozza

Research output: Contribution to journalArticle

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 [θ] of .00) and D16S303 (maximum LOD score 3.74 at ι = .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.

Original languageEnglish
Pages (from-to)135-139
Number of pages5
JournalAmerican Journal of Human Genetics
Volume63
Issue number1
DOIs
Publication statusPublished - Jul 1998

ASJC Scopus subject areas

  • Genetics

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    De Michele, G., De Fusco, M., Cavalcanti, F., Filla, A., Marconi, R., Volpe, G., Monticelli, A., Ballabio, A., Casari, G., & Cocozza, S. (1998). A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. American Journal of Human Genetics, 63(1), 135-139. https://doi.org/10.1086/301930