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PMID: 10677329 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

American journal of human genetics ·Vol. 66 ·No. 2 ·2000-02-00 ·Pages 702-7

Fontaine B, Davoine CS, Dürr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A

Abstract

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of French descent with autosomal dominant pure HSP. We excluded genetic linkage to the known loci causing HSP and performed a genomewide search. We found evidence for linkage of the disorder to polymorphic markers on chromosome 2q24-q34: a maximum LOD score of 3. 03 was obtained for marker D2S2318. By comparison with families having linkage to the major locus of pure autosomal dominant HSP (SPG4 on chromosome 2p), there were significantly more patients without Babinski signs, with increased reflexes in the upper limbs, and with severe functional handicaps.

MeSH Terms
Adult Alleles Chromosome Mapping Chromosomes, Human, Pair 2/genetics Female France/ethnology Genes, Dominant/genetics Haplotypes/genetics Humans Lod Score Male Paraplegia/genetics,physiopathology Pedigree Phenotype Polymorphism, Genetic/genetics
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Fontaine B
INSERM CJF9711, Faculté de Médecine Pitié-Salpêtrière, 105 boulevard de l'hôpital, 75013 Paris, France. fontaine@infobiogen.fr
Davoine C S
Dürr A
Paternotte C
Feki I
Weissenbach J
Hazan J
Brice A
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/302776
Email
fontaine@infobiogen.fr
Published
2000-02-00
Pages
702-7
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1288122
Subset
IM
External Links
PubMed source DOI: 10.1086/302776 PMC Full Text View journal details
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