Prenatal diagnosis of hereditary spastic paraplegia

Prenat Diagn. 2001 Mar;21(3):202-6. doi: 10.1002/1097-0223(200103)21:3<202::aid-pd4>3.0.co;2-u.

Abstract

Hereditary spastic paraplegia (HSP) is a degenerative neurologic disorder that causes progressive, often severe, spastic weakness in the legs. Autosomal dominant HSP is a highly penetrant, genetically heterogeneous disorder with loci present on chromosomes 2p21-24, 2q24-34, 8q23-24, 10q23.3-24, 12q13, 14q12-23, 15q11-14 and 19q13.1. We identified a large HSP kindred in which the disorder was tightly linked to chromosome 14q12-23. We tested chorionic villus DNA samples of two at-risk fetuses for inheritance of microsatellite polymorphisms flanking and within this locus that segregated with the disease in this family. Whereas samples from the first fetus showed inheritance of a haplotype segregating with the disease allele (indicating high risk of developing HSP), samples from the second fetus showed inheritance of a haplotype segregating with the normal allele (indicating low risk of developing HSP). This is the first report of prenatal testing for HSP. Published in 2001 by John Wiley & Sons, Ltd.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 14
  • Female
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis* / methods
  • Spastic Paraplegia, Hereditary / diagnosis*