Prenatal diagnosis of hereditary spastic paraplegia.
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.
Department of Neurology, University of Michigan, Ann Arbor, MI, USA.
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P
Hedera
J A
JA
Williamson
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S
Rainier
D
D
Alvarado
T
T
Tukel
M
M
Apak
J K
JK
Fink
D000328:Adult; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis*