Document Detail


Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.
MedLine Citation:
PMID:  10563637     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To map the gene responsible for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) in a large affected family. BACKGROUND: Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is genetically heterogeneous, and loci have been mapped at chromosomes 2p (SPG4), 14q (SPG3), 15q (SPG6), and recently, in a single family, at chromosome 8q24 (SPG8). METHODS: The authors carried out a genomewide linkage screen on a large family with ADPHSP, for which linkage to the chromosome 2, 14, and 15 loci was excluded. RESULTS: Analysis of markers on chromosome 8q24 gave a peak two-point lod score of 4.49 at marker D8S1799. Analysis of recombination events in this family and in the previously published SPG8-linked family narrowed the SPG8 locus from 6.2 cM to a 3.4-cM region between markers D8S1804 and D8S1179. In another four families, linkage to all four known ADPHSP loci was excluded. The SPG8-linked family had a significantly older mean age at onset of symptoms and had significantly more wheelchair-using patients than the four linkage-excluded families. CONCLUSIONS: These results contain the presence of an autosomal dominant pure hereditary spastic paraplegia (ADPHSP) locus at chromosome 8q24 and strongly suggest that there are at least five ADPHSP loci. The data provide additional evidence for locus-phenotype correlations in ADPHSP.
Authors:
E Reid; A M Dearlove; M L Whiteford; M Rhodes; D C Rubinsztein
Related Documents :
15286787 - Mutations in slc6a19, encoding b0at1, cause hartnup disorder.
18337587 - Spg11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
7821467 - Three subgroups of patients from the united kingdom with leber hereditary optic neuropa...
7511317 - Tomaculous neuropathy in chromosome 1 charcot-marie-tooth syndrome.
15490107 - Detection of quantitative trait loci controlling bud burst and height growth in quercus...
16413167 - The first radiation hybrid map of a perch-like fish: the gilthead seabream (sparus aura...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  53     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1999 Nov 
Date Detail:
Created Date:  1999-11-30     Completed Date:  1999-11-30     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1844-9     Citation Subset:  AIM; IM    
Affiliation:
Department of Medical Genetics, University of Cambridge, UK.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Mapping*
Chromosomes, Human, Pair 8*
Female
Genes, Dominant*
Genetic Variation*
Humans
Lod Score
Male
Middle Aged
Paraplegia / genetics*
Pedigree
Phenotype

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Measuring quality of life in a way that is meaningful to stroke patients.
Next Document:  A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis.