Access
To read this article in full you may need to log in, make a payment or gain access through a site license (see right).
Review
Nature Reviews Neuroscience 1, 109–115 (1 November 2000) | doi:10.1038/35039051
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
&
Abstract
Two decades ago, molecular genetic analysis provided a new approach for defining the roots of inherited disorders. This strategy has proved particularly powerful because, with only a description of the inheritance pattern, it can uncover previously unsuspected mechanisms of pathogenesis that are not implicated by known biological pathways or by the disease manifestations. Nowhere has the impact of molecular genetics been more evident than in the dominantly inherited neurodegenerative disorders, where eight unrelated diseases have been revealed to possess the same type of mutation — an expanded polyglutamine encoding sequence — affecting different genes.
To read this article in full you may need to log in, make a payment or gain access through a site license (see right).
