Genetic Instabilities & Neurological Diseases,2/e > Neurology

This book describes everything about DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides excellent updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This edition also features a CD-ROM containing all of the figures from the book. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students.
* Includes a CD-ROM with all of the figures
* Contributions by most of the principal research teams in the area, edited by world-renowned leaders
* Lays the background for future investigations on related diseases

Ch. 1 Overview of the field 3
Ch. 2 Myotonic dystrophies : an overview 21
Ch. 3 The RNA-mediated disease process in myotonic dystrophy 37
Ch. 4 cis effects of CTG expansion in myotonic dystrophy type 1 55
Ch. 5 Normal and pathophysiological significance of myotonic dystrophy protein kinase 79
Ch. 6 Biochemistry of myotonic dystrophy protein kinase 99
Ch. 7 Clinical and genetic features of myotonic dystrophy type 2 115
Ch. 8 Myotonic dystrophy type 2 : clinical and genetic aspects 131
Ch. 9 The subtelomeric D4Z4 repeat instability in facioscapulohumeral muscular dystrophy 151
Ch. 10 Fragile X syndrome and fragile X-associated tremor/ataxia syndrome 165
Ch. 11 Animal models of fragile X syndrome : mice and flies 175
Ch. 12 Chromosomal fragile sites : mechanisms of cytogenetic expression and pathogenic consequences 195
Ch. 13 Clinical features and molecular biology of Kennedy's disease 211
Ch. 14 Molecular pathogenesis and therapeutic targets in Huntington's disease 223
Ch. 15 Molecular pathogenesis of Huntington's disease : the role of excitotoxicity 251
Ch. 16 Huntington's disease-like 2 261
Ch. 17 Friedreich's ataxia 277
Ch. 18 Experimental therapeutics for Friedreich's ataxia 297
Ch. 19 Evolution and instability of the GAA triplet-repeat sequence in Friedreich's ataxia 305
Ch. 20 Mouse models for Friedreich's ataxia 321
Ch. 21 Triplexes, sticky DNA, and the (GAA TTC) trinucleotide repeat associated with Friedreich's ataxia 327
Ch. 22 Phosphorylation of ataxin-1 : a link between basic research and clinical application in spinocerebellar ataxia type 1 339
Ch. 23 Spinocerebellar ataxia type 2 351
Ch. 24 Machado-Joseph disease/spinocerebellar ataxia type 3 363
Ch. 25 Spinocerebellar ataxia type 6 379
Ch. 26 Pathogenesis of spinocerebellar ataxia type 7 : new insights from mouse models and ataxin-7 function 387
Ch. 27 Spinocerebellar ataxia type 7 : clinical features to cellular pathogenesis 399
Ch. 28 Molecular genetics of spinocerebellar ataxia type 8 417
Ch. 29 Spinocerebellar ataxia type 10 : a disease caused by an expanded (ATTCT)[subscript n] pentanucleotide repeat 433
Ch. 30 DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)[subscript n] (AGAAT)[subscript n] repeats suggest a DNA amplification model for repeat expansion 447
Ch. 31 Spinocerebellar ataxia type 12 461
Ch. 32 Spinocerebellar ataxia 17 and Huntington's disease-like 4 475
Ch. 33 Polyalanine and polyglutamine diseases : possible common mechanisms? 487
Ch. 34 Chemical and physical properties of polyglutamine repeat sequences 517
Ch. 35 Somatic mosaicism of expanded CAG CTG repeats in humans and mice : dynamics, mechanisms, and consequences 537
Ch. 36 Transgenic mouse models of unstable trinucleotide repeats : toward an understanding of disease-associated repeat size mutation 563
Ch. 37 Drosophila models of polyglutamine disorders 587
Ch. 38 Involvement of genetic recombination in microsatellite instability 597
Ch. 39 Bending the rules : unusual nucleic acid structures and disease pathology in the repeat expansion diseases 617
Ch. 40 Replication of expandable DNA repeats 637
Ch. 41 Error-prone repair of slipped (CTG) (CAG) repeats and disease-associated expansions
Ch. 42 DNA repair models for understanding triplet repeat instability 667
Ch. 43 Models of repair underlying trinucleotide DNA expansion 679
Ch. 44 Transcription and triplet repeat instability 691
Ch. 45 Structural characteristics of trinucleotide repeats in transcripts 705
Ch. 46 Gross rearrangements caused by long triplet and other repeat sequences 717
Ch. 47 Microsatellite instability in cancer 737

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