Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia

William K. Scott, P. Craig Gaskell, Felicia Lennon, Chantelle M. Wolpert, Marisa M. Menold, Arthur S. Aylsworth, Carolyn Warner, Carolyn D. Farrell, Rose Mary N. Boustany, Susan G. Albright, Ellen Boyd, Helen M. Kingston, W. J.K. Cumming, Jeffery M. Vance, Margaret A. Pericak-Vance

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

We examined 11 Caucasian pedigrees with autosomal dominant 'uncomplicated' familial spastic paraplegia (SPG) for linkage to the previously identified loci on chromosomes 2p, 14q and 15q. Chromosome 15q was excluded for all families. Five families showed evidence for linkage to chromosome 2p, one to chromosome 14q, and five families remained indeterminate. Homogeneity analysis of combined chromosome 2p and 14q data gave no evidence for a fourth as yet unidentified SPG locus. Recombination events reduced the chromosome 2p minimum candidate region (MCR) to a 3 cM interval between D2S352 and D2S367 and supported the previously reported 7 cM MCR for chromosome 14q. Age of onset (AO) was highly variable, indicating that subtypes of SPG are more appropriately defined on a genetic basis than by AO. Comparison of AO in parent-child pairs was suggestive of anticipation, with a median difference of 9.0 years (p <0.0001).

Original languageEnglish (US)
Pages (from-to)95-102
Number of pages8
JournalNeurogenetics
Volume1
Issue number2
DOIs
StatePublished - 1997

Keywords

  • Chromosome 14
  • Chromosome 2
  • Genetic linkage
  • Spastic paraplegia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)

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    Scott, W. K., Gaskell, P. C., Lennon, F., Wolpert, C. M., Menold, M. M., Aylsworth, A. S., Warner, C., Farrell, C. D., Boustany, R. M. N., Albright, S. G., Boyd, E., Kingston, H. M., Cumming, W. J. K., Vance, J. M., & Pericak-Vance, M. A. (1997). Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. Neurogenetics, 1(2), 95-102. https://doi.org/10.1007/s100480050014