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Nature Reviews Neuroscience 9, 323 (1 May 2008) | doi:10.1038/nrn2390

Neurodegenerative disease: Understanding and preventing total catastrophe

Claudia Wiedemann

Polyglutamine diseases are progressive neurodegenerative diseases characterized by the presence of extended CAG repeats in specific genes, such as ataxin 1; these repeats lead to the generation of polyglutamine-expanded (polyQ) proteins. The mechanism by which polyQ proteins cause disease is not known.