• H A Jinnah and Ellen J Hess.
• Departments of Neurology, Human Genetics and Pediatrics, Emory University, Atlanta, GA, USA. Electronic address: hjinnah@emory.edu.
• Parkinsonism Relat. Disord. 2018 Jan 1; 46 Suppl 1: S62-S65.

IntroductionThe dystonias are a group of disorders defined by over-contraction of muscles leading to abnormal movements and postures. In recent years, enormous advances have been made in elucidating the neurobiological mechanisms responsible for many types of dystonia.MethodsA literature review was conducted focusing on evolving concepts in dystonia genetics, anatomy and physiology.ResultsThe list of genes related to dystonia has grown from a relatively small number to more than 100. Concepts regarding the neuroanatomical basis for dystonia have evolved from a relatively narrow focus on dysfunction of the basal ganglia to a broader motor network model in which the basal ganglia, cerebellum, cerebral cortex, and other brain regions play a key role. Physiologically, our understanding of the core abnormalities has matured; and numerous changes in neural signaling have been revealed in the basal ganglia, cerebellum and cortex.ConclusionAlthough the dystonias share certain clinical aspects such as over-contraction of muscles leading to abnormal movements and postures, they actually comprise a very clinically and etiologically heterogeneous group of disorders. Understanding their neurobiological basis is important for devising rational therapies appropriately targeted for specific subgroups of patients.Copyright © 2017 Elsevier Ltd. All rights reserved.

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