Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia

M. C. Speer, H. M. Kingston, R. M.N. Boustany, P. C. Gaskell, L. C. Robinson, F. Lennon, C. M. Wolpert, L. H. Yamaoka, S. G. Kahler, E. L. Hogan, W. J.K. Cumming, M. A. Pericak-Vance

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Familial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its 'pure' form generally of autosomal dominant inheritance pattern. Hazan et al. [Nat Genet 5:163-167, 1993] reported tight linkage of a large FSP family to the highly polymorphic microsatellite marker D14S269 with z ((θ)) = 8.49 at (θ) = 0.00 They further demonstrated evidence for locus heterogeneity when they showed that 2 FSP families were unlinked to this region. We have subsequently studied 4 FSP families (3 American, one British) and excluded the disease locus in these families for approximately 30 cM on either side of D14S269, thereby confirming evidence for locus heterogeneity within the spastic paraplegia diagnostic classification.

Original languageEnglish (US)
Pages (from-to)307-311
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume60
Issue number4
DOIs
StatePublished - Aug 28 1995
Externally publishedYes

Keywords

  • autosomal dominant inheritance
  • genetic linkage
  • progressive spasticity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

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    Speer, M. C., Kingston, H. M., Boustany, R. M. N., Gaskell, P. C., Robinson, L. C., Lennon, F., Wolpert, C. M., Yamaoka, L. H., Kahler, S. G., Hogan, E. L., Cumming, W. J. K., & Pericak-Vance, M. A. (1995). Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia. American Journal of Medical Genetics - Neuropsychiatric Genetics, 60(4), 307-311. https://doi.org/10.1002/ajmg.1320600409