Analysis of Triplet Repeat Disorders

Using the clinical picture of these diseases as a starting point, the book reviews and integrates the current understanding of their molecular pathologies, the genotype-phenotype relationships, the mutational processes of trinucleotide repeats, and

D. C. Rubinsztein (University of Cambridge, U.K.) (Volume editor) , M. R. Hayden (University of British Columbia, Vancouver, Canada) (Volume editor)

Foreword. Introduction. The FRAXA fragile site and fragile X syndrome. Molecular studies of the fragile sites FRAXE and FAXF. Myotonic dystrophy. Spinobulbar musculal atrophy. Polyglutamine tract vs protein context in SCA1 pathogenesis. Spinocerebellar ataxia type 2 (SCA2). Spinocerebellar ataxia type 3/Machado Joseph disease. Spinocerebellar ataxia type 6 (SCA6). Spinocerebellar ataxia type 7 (SCA7). Huntingtons disease. Dentatorubral-pallidoluysian atrophy (DRLPA). Friedrich's ataxia. Anticipation, triplet repeats and psychiatric disorders. Trinucleotide repeat mutation processes. Diagnostic testing for trinucleotide repeat diseases. Predictive testing for trinucleotide repeat diseases.