Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1999 Feb;64(2):563-9.
doi: 10.1086/302258.

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

P Hedera  1 , S Rainier, D Alvarado, X Zhao, J Williamson, B Otterud, M Leppert, J K Fink
Affiliations

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

P Hedera et al. Am J Hum Genet. 1999 Feb.

Abstract

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of disorders characterized by insidiously progressive spastic weakness in the legs. Genetic loci for autosomal dominant HSP exist on chromosomes 2p, 14q, and 15q. These loci are excluded in 45% of autosomal dominant HSP kindreds, indicating the presence of additional loci for autosomal dominant HSP. We analyzed a Caucasian kindred with autosomal dominant HSP and identified tight linkage between the disorder and microsatellite markers on chromosome 8q (maximum two-point LOD score 5.51 at recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant HSP on chromosome 8q23-24. Currently this locus spans 6.2 cM between D8S1804 and D8S1774 and includes several potential candidate genes. Identifying this novel HSP locus on chromosome 8q23-24 will facilitate discovery of this HSP gene, improve genetic counseling for families with linkage to this locus, and extend our ability to correlate clinical features with different HSP loci.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. J Med Genet. 1976 Jun;13(3):217-22 - PubMed
    1. AMA Arch Neurol Psychiatry. 1956 Feb;75(2):144-62 - PubMed
    1. J Neurol Neurosurg Psychiatry. 1963 Dec;26:516-9 - PubMed
    1. Acta Neurol Scand. 1990 Sep;82(3):169-73 - PubMed
    1. Am J Hum Genet. 1987 Nov;41(5):933-43 - PubMed

Publication types