Novel genetic modifiers of Alzheimer disease phenotype

In close collaboration with colleagues from the Alzheimer Centre in Amsterdam, we recently made the intriguing observation that disease expression in Alzheimer disease is modulated by common CAG repeat length variations, especially those in ATXN1 and AR (link to the paper), providing further support for the notion that DNA repeat polymorphisms could be an under-appreciated class of genetic modifiers of brain structure and function in health and disease.

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