Huntington's disease (HD) is an autosomal dominant disease characterized by motor disturbance, cognitive loss and psychiatric manifestations, starting between the fourth and the fifth decade, followed by death within 10-20 years of onset of the disease. The disease-causing mutation is an expansion of a CAG triplet repeat at the 5' coding end of the Huntington gene. We have developed a single-cell PCR assay for the HD gene in order to propose preimplantation genetic diagnosis (PGD) for the couples at risk. We present here our first results with our first nine PGD cycles and also discuss the behaviour of the disease-causing expansion in pre-implantation embryos.
Original languageEnglish
Pages (from-to)1427-1436
Number of pages10
JournalPrenat Diagn
Issue numberDecember
Publication statusPublished - Dec 1998

    Research areas

  • PGD, HD, Huntington's disease

ID: 1058149