Maternal transmission in sporadic Huntington's disease.

Abstract excerpt

Huntington's disease is an autosomal dominant neurodegenerative disorder caused by the expansion of a (CAG)n repeat in the IT15 gene. Three per cent of cases are sporadic and in those in which family studies have been performed, the origin of the mutation was always paternal. The first sporadic case of Huntington's disease is presented in which a premutated maternal allele of 37 CAG repeats was transmitted...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alleles
• Share to Genetic Counseling
• Share to Huntington Disease