Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21

M. A. Nance, W. A. Raabe, H. Midani, E. H. Kolodny, W. S. David, L. Megna, M. A. Pericak-Vance, J. L. Haines

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of linkage analysis to markers from the regions of chromosomes 2, 14, and 15 which are known to contain spastic paraplegia genes. All families had 'pure' spastic paraparesis (FSP), but the severity of symptoms varied widely among families, and other mild neurologic signs were observed in some subjects. Although no family individually yielded a lod score > 3.0, all families yielded positive lod scores with chromosome 2 markers, and a maximal lod score of 5.7 was obtained for the families combined using marker D2S352. There was no evidence of linkage to chromosome 14 or 15 in any of the families.

Original languageEnglish (US)
Pages (from-to)169-178
Number of pages10
JournalHuman Heredity
Volume48
Issue number3
DOIs
StatePublished - May 1 1998
Externally publishedYes

Keywords

  • Chromosome 2
  • Genetic linkage
  • Spastic paraplegia

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21'. Together they form a unique fingerprint.

  • Cite this

    Nance, M. A., Raabe, W. A., Midani, H., Kolodny, E. H., David, W. S., Megna, L., Pericak-Vance, M. A., & Haines, J. L. (1998). Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Human Heredity, 48(3), 169-178. https://doi.org/10.1159/000022798