Human Nucleotide Expansion Disorders

• Molecular Bases of Nucleotide Expansions.- Mechanisms of DNA Repeat Expansion.- Disorders Associated with Non-coding Repeats.- Molecular Correlates of Fragile X Syndrome and FXTAS.- The Neglected Fragile X Mutations: FRAXE and FRAXF.- Friedreich Ataxia.- Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1.- Myotonic Dystrophies Types 1 and 2.- Spinocerebellar Ataxia Type 8.- Recent Progress in Spinocerebellar Ataxia Type 10.- Disorders Associated with Coding Repeats.- Polyglutamine Diseases.- The Enigma of Spinocerebellar Ataxia Type 6.- Disorders Associated with Repeats in an Undetermined Location.- Spinocerebellar Ataxia Type 12 and Huntington’s Disease-Like 2: Clues to Pathogenesis.- Postscript.- Current Issues and Therapeutic Prospects.

From the reviews: "The authors combine their expertise in diverse areas of molecular genetics to produce a general scope for each disease. Additionally, the corresponding clinical features are briefly discussed, and genotype/phenotype correlations are outlined. The overall result is a useful and concise review which will be of interest to researchers in molecular biology and human genetics, as well as professionals in medicine looking to obtain insights into the ever expanding fields of unstable repeat disorders." (Laura E. Machuca-Tzili, Human Genetics, Vol. 125, June, 2009)