Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin.

Abstract excerpt

Huntington disease (HD) phenotypes without a HTT mutation are known as HD-like (HDL) syndromes and are caused by mutations in other loci. HDL2, almost indistinguishable from HD, is due to expansions in the Junctophilin 3 locus (JPH3) with a worldwide Sub-Saharan ethnic origin. Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for...

Topics

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

• Share to Africa South of the Sahara
• Share to Black People
• Share to Exons