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Prenatal diagnosis of hereditary spastic paraplegia
Author(s) -
Hedera Peter,
Williamson Jeffrey A.,
Rainier Shirley,
Alvarado David,
Tukel Turgut,
Apak Memnune,
Fink John K.
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200103)21:3<202::aid-pd4>3.0.co;2-u
Subject(s) - haplotype , genetics , locus (genetics) , hereditary spastic paraplegia , allele , genetic linkage , biology , pedigree chart , genetic counseling , microsatellite , prenatal diagnosis , spastic , paraplegia , fetus , medicine , gene , pregnancy , cerebral palsy , psychiatry , phenotype , neuroscience , spinal cord
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.