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PMID: 10441583 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

American journal of human genetics ·Vol. 65 ·No. 3 ·1999-09-00 ·Pages 757-63

Reid E, Dearlove AM, Rhodes M, Rubinsztein DC

Abstract

Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is clinically characterized by slowly progressive lower-limb spasticity. The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q. We have performed a genomewide linkage screen on a large family with ADPHSP, in which linkage to all four previously known loci was excluded. Analysis of markers on chromosome 12q gave a peak pairwise LOD score of 3.61 at D12S1691, allowing us to assign a new locus for ADPHSP (a locus that we have designated "SPG10") to this region. Haplotype construction and analysis of recombination events narrowed the SPG10 locus to a 9.2-cM region between markers D12S368 and D12S83. In addition, our data strongly suggest that there are at least six ADPHSP loci, since we describe a further family in which linkage to all five known ADPHSP loci has been excluded.

MeSH Terms
Adolescent Adult Age of Onset Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 12/genetics Chromosomes, Human, Pair 2/genetics Female Genes, Dominant Genetic Heterogeneity Genetic Markers Haplotypes Humans Lod Score Male Middle Aged Paraplegia/genetics,physiopathology Pedigree Phenotype Recombination, Genetic
Chemicals
Genetic Markers
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Reid E
Department of Medical Genetics, University of Cambridge, Cambridge CB2 2XY, United Kingdom.
Dearlove A M
Rhodes M
Rubinsztein D C
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302555
Published
1999-09-00
Pages
757-63
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1377983
Subset
IM
Grants
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1086/302555 PMC Full Text View journal details
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