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Book Reviews
April 2004

Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects

Author Affiliations


Arch Neurol. 2004;61(4):602. doi:10.1001/archneur.61.4.602

edited by Peter S. Harper and Max Perutz, 312 pp, $95, ISBN 0-19-850685-6, New York, NY, Oxford University Press, 2001.

The first disorder due to trinucleotide repeat expansion, namely Kennedy syndrome, was discovered in 1991. Thus, it is fitting that a decade later a book reviewing the clinical, genetic, and pathologic features of trinucleotide repeat disorders has been published.

This book is edited by 2 internationally respected individuals known for their work in neurogenetic disorders, with chapters written by scientists who have made significant contributions in this area. After an introductory chapter on Huntington disease (HD) by Dr Harper, the following chapters describe in detail animal models of HD (both mouse and Drosophila species), proposed mechanisms of polyglutamine pathogenesis, and biochemistry of huntingtin (the HD protein product) in cell culture and in vitro. A smaller section is devoted to the mechanisms of CAG instability and evolution. The last 6 chapters review the phenotype and genotype correlations in spinocerebellar ataxias, dentatorubropallidoluysian atrophy, and Kennedy syndrome. The last chapter, somewhat of a surprise considering the focus of the book, deals with tauopathies and synucleinopathies.