Two decades ago, molecular genetic analysis provided a new approach for def
ining the roots of inherited disorders. This strategy has proved particular
ly 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 dis
eases have been revealed to possess the same type of mutation - an expanded
polyglutamine encoding sequence - affecting different genes.