Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

doi:10.1136/jmg.30.12.1012

Article

Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

Journal of medical genetics - 1 Dec 1993

MacMillan J C, Morrison P J, Nevin N C, Shaw D J, Harper P S, Quarrell O W, Snell R G

Abstract excerpt

Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by the onset of non-progressive chorea in childhood and the absence of cognitive impairment. Using primers flanking the (CAG)n repeat in IT15, expansion of which is associated with HD, we have detected an abnormal...

Topics

Adult
Aged
Aged, 80 and over
Alleles
Chorea
Diagnosis, Differential
Female
Humans
Huntington Disease
Male
Middle Aged
Oligodeoxyribonucleotides
Pedigree
Repetitive Sequences, Nucleic Acid

Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

Abstract excerpt

Topics

Discuss the evidence