Polyglutamine Disorders [Hardcover]

This book provides a cutting-edge review of polyglutamine disorders. It primarily focuses on two main aspects: (1) the mechanisms underlying the pathologies development and progression, and (2) the therapeutic strategies that are currently being explored to stop or delay disease progression.?

Polyglutamine (polyQ) disorders are a group of inherited neurodegenerative diseases with a fatal outcome that are caused by an abnormal expansion of a coding trinucleotide repeat (CAG), which is then translated in an abnormal protein with an elongated glutamine tract (Q). To date, nine polyQ disorders have been identified and described: dentatorubral-pallidoluysian atrophy (DRPLA); Huntingtons disease (HD); spinalbulbar muscular atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6, 7, and 17).

The genetic basis of polyQ disorders is well established and described, and despite important advances that have opened up the possibility of generating genetic models of the disease, the mechanisms that cause neuronal degeneration are still largely unknown and there is currently no treatment available for these disorders. Further, it is believed that the different polyQ may share some mechanisms and pathways contributing to neurodegeneration and disease progression.

Clinical features of Huntingtons disease.-?Genetic rodent models of Huntingtons disease.-?Mitochondrial dysfunction in Huntingtons disease.-?RNA related pathology in Huntingtons disease.-?Spinal and bulbar muscular atrophy: from clinical genetic features and molecular pathology to mechanisms underlying disease toxicity.-?Spinocerebellar Ataxia Type 1: Molecular Mechanisms Of Neurodegeneration And Preclinical Studies.-?Spinocerebellar Ataxia, type 6.-?Spinocerebellar ataxia type 2.-?Molecular mechanisms and therapeutic strategies in Spinocerebellar ataxia type 7.-?Spinocerebellar ataxil£,