Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments.

Myotonic dystrophies : state of the art of new therapeutic developments for the CNS / G. Gourdon, G. Meola. - In: FRONTIERS IN CELLULAR NEUROSCIENCE. - ISSN 1662-5102. - 11(2017), pp. 101.1-101.14. [10.3389/fncel.2017.00101]

Myotonic dystrophies : state of the art of new therapeutic developments for the CNS

G. Meola
Ultimo
2017

Abstract

Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments.
Animal models; DM CNS symptoms; Myotonic dystrophy; Therapeutic strategies; Trinucleotide repeat diseases; Cellular and Molecular Neuroscience
Settore MED/26 - Neurologia
2017
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/524378
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