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

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.

SUBMITTER: De Michele G 

PROVIDER: S-EPMC1377251 | biostudies-other | 1998 Jul

REPOSITORIES: biostudies-other

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

De Michele G G   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  

American journal of human genetics 19980701 1

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 des  ...[more]

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