Article
A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort.
BMC neurology - 2 Jan 2014
Weydt Patrick, Soyal Selma M, Landwehrmeyer G Bernhard, Patsch Wolfgang
Abstract excerpt
BACKGROUND: Genetic modifiers are important clues for the identification of therapeutic targets in neurodegenerative diseases. Huntington disease (HD) is one of the most common autosomal dominant inherited neurodegenerative diseases. The clinical symptoms include motor abnormalities, cognitive decline and behavioral disturbances. Symptom onset is typically between 40 and 50 years of age, but can vary by several...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
