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Nat Rev Neurosci. 2000 Nov;1(2):109-15.

Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease.

Author information

1
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. gusella@helix.mgh.harvard.edu

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.

PMID:
11252773
DOI:
10.1038/nrd1077
[Indexed for MEDLINE]

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