Polyglutamine Disorders by Lus Almeida ISBN 9783319891033
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Polyglutamine Disorders by Lus Almeida ISBN 9783319891033

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Polyglutamine Disorders by Lus Almeida

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.


Book details

ISBN 13 9783319891033
ISBN 10 3319891030
Author Lus Almeida
Series Advances In Experimental Medicine And Biology
Condition New
Binding Type Paperback
Publisher Springer International Publishing AG
Year published 2019-06-06
Number of pages 469
Cover note Book picture is for illustrative purposes only, actual binding, cover or edition may vary.

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