Genetic Aberrancies and Neurodegenerative Disorders

Genetic Aberrancies and Neurodegenerative Disorders, 1st Edition

Genetic Aberrancies and Neurodegenerative Disorders, 1st Edition,M.P. Mattson,ISBN9780762304059

M Mattson   

Elsevier Science




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Genetic Aberrancies and Neurodegenerative Disorders presents critical reviews and emerging findings concerning the roles of genetic mutations and polymorphisms in the pathogenesis of a range of neurological disorders including Alzheimer's and Parkinson's diseases, trinucleotide repeat disorders, stroke, epilepsy and others. This volume, written by leading experts, brings together fundamental information concerning the roles of inherited traits in the pathogenesis of different neurodegenerative disorders. In addition to providing a catalogue of the known genetic alterations that are linked to specific neurodegenerative disorders, the chapters detail the current state of understanding of the cellular and biochemical mechanisms whereby the genetic aberrancies lead to neuronal dysfunction and degeneration. The emerging picture of each disorder, painted by pathological, biochemical and molecular brushes, suggests that they share key mechanisms including increased levels of oxidative stress, perturbed ion homeostasis, mitochondrial dysfunction and apoptotic proteolytic cascades. The existence of specific molecular defects provides the opportunity to design experiments that can establish the precise pathogenic mechanism of a specific mutation or genetic risk factor. The value of this approach is exemplified by recent studies of how mutations in Cu/Zn-superoxide dismutase cause amyotrophic lateral sclerosis and how presenilin mutations result in early-onset Alzheimer's disease. A theme developed among the different chapters is that events that occur during aging predispose neurons to genetic aberrancies that promote degenerative cascades, and that specific genetic defects exert their influence on particular populations of neurons in a disorder-specific manner. The chapters in this volume will stimulate readers to generate new hypotheses concerning the pathogenic mechanisms of genetic aberrancies that can be experimentally tested.

M.P. Mattson

Affiliations and Expertise

Laboratory of Neurosciences, National Institute on Aging, Gerontology Research Center, Baltimore, MD, USA

View additional works by M.P. Mattson

Genetic Aberrancies and Neurodegenerative Disorders, 1st Edition

Contents. List of Contributors. Preface (M.P. Mattson). Genetic Contributions to the Pathogenesis of Alzeheimer's Disease (M.P. Mattson). The Biology of Trinucleotide Repeat Disorders (P.H. Reddy and D.A. Tagle). The Genetic Basis and Molecular Pathogenesis of Huntington's Disease (N.W. Kowall, S. Kuemmerle, and R.J. Ferrante). Genetic Abnormalities in Amyotrophic Lateral Sclerosis (E.J. Kasarskis and D.K. St. Clair). Human Prion Diseases (B. Ghetti and P. Gambetti). Progress in Understanding the Genetics of Epilepsy (C.E. Stafstrom, A.N. Prasad, C. Prasad, and J.T. Slevin). Cerebrovascular Disease (L. Penix, and D. Lanska). Genetic Susceptibility in Multiple Sclerosis (R.B. Bell). The Role of Mitochondrial Genome Mutations in Neurodegenerative Disease (G.W. Glazner). Hereditary Disorders of Copper Metabolism (Z. Tumer and N. Horn). The Neuronal Ceroid-Lipofuscinoses Batten Disease (R.D. Jolly, A. Kohlschutter, D.N. Palmer, and S.U. Walkley). Index.
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