Study estimates how common carriers of polyglutamine disease-associated gene variants are in general population

Bottom Line: Huntington disease is one of nine rare hereditary neurodegenerative diseases known as polyglutamine diseases. This observational study estimated how common carriers with intermediate and pathological ranges of polyglutamine disease-associated gene variants were among the general population using data from five European studies that included DNA samples for more than 14,000 participants without a known polyglutamine disease diagnosis.

Authors: Sarah L. Gardiner, M.D., of Leiden University Medical Center, Leiden, the Netherlands, and N. Ahmad Aziz, M.D., of the German Center for Neurodegenerative Diseases, Bonn, Germany, and coauthors

(doi:10.1001/jamaneurol.2019.0423)

Editor’s Note: The article includes conflict of interest and funding/support disclosures. Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.

###

Embed this link to provide your readers free access to the full-text article: This link will be live at the embargo time https://jamanetwork.com/journals/jamaneurology/fullarticle/2729012?guestAccessKey=5e7a9be6-0999-48a8-aece-3e4a09e1a79a&utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_content=tfl&utm_term=040119

Media Contact
Sarah L. Gardiner, M.D.

[email protected]

Comments