Overview
- Provides a cutting-edge review of polyglutamine diseases
- Includes chapters that explore each disorder in depth, as well as gene and cell therapies
- Shows the involvement of leading global researchers in the field of polyglutamine disorders
Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 1049)
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Table of contents (22 chapters)
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Front Matter
Keywords
About this book
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); Huntington’s disease (HD); spinal–bulbar 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.
Editors and Affiliations
About the editors
University of Coimbra, Center for Neurosciences and Cell Biology, FMUC, Coimbra, Portugal
Bibliographic Information
Book Title: Polyglutamine Disorders
Editors: Clévio Nóbrega, Luís Pereira de Almeida
Series Title: Advances in Experimental Medicine and Biology
DOI: https://doi.org/10.1007/978-3-319-71779-1
Publisher: Springer Cham
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2018
Hardcover ISBN: 978-3-319-71778-4Published: 20 February 2018
Softcover ISBN: 978-3-319-89103-3Published: 06 June 2019
eBook ISBN: 978-3-319-71779-1Published: 09 February 2018
Series ISSN: 0065-2598
Series E-ISSN: 2214-8019
Edition Number: 1
Number of Pages: VIII, 469
Number of Illustrations: 2 b/w illustrations, 39 illustrations in colour
Topics: Neurosciences, Neurology, Gene Function