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


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.


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Sarah L. Gardiner, M.D.

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