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Dystonia

Morgante, Francesca MD, PhD; Klein, Christine MD

doi: 10.1212/01.CON.0000436154.08791.67
Review Articles

Purpose of Review The purpose of this review is to provide an update on the classification, phenomenology, pathophysiology, and treatment of dystonia.

Recent Findings A revised definition based on the main phenomenologic features of dystonia has recently been developed in an expert consensus approach. Classification is based on two main axes: clinical features and etiology. Currently, genes have been reported for 14 types of monogenic isolated and combined dystonia. Isolated dystonia (with dystonic tremor) can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), PRKRA (DYT16), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (GCHI [DYT5], SGCE [DYT11], and ATP1A3 [DYT12], with TAF1 most likely but not yet proven to be linked to DYT3) and paroxysmal (PNKD [DYT8], PRRT2 [DYT10], and SLC2A1 [DYT18]). Recent insights from neurophysiologic studies identified functional abnormalities in two networks in dystonia: the basal ganglia–sensorimotor network and, more recently, the cerebellothalamocortical pathway. Besides the well-known lack of inhibition at different CNS levels, dystonia is specifically characterized by maladaptive plasticity in the sensorimotor cortex and loss of cortical surround inhibition. The exact role (modulatory or compensatory) of the cerebellar-cortical pathways still has to be further elucidated. In addition to botulinum toxin for focal forms, deep brain stimulation of the globus pallidus internus is increasingly recognized as an effective treatment for generalized and segmental dystonia.

Summary The revised classification and identification of new genes for different forms of dystonia, including adult-onset segmental dystonia, enable an improved diagnostic approach. Recent pathophysiologic insights have fundamentally contributed to a better understanding of the disease mechanisms and impact on treatment, such as functional neurosurgery and nonpharmacologic treatment options.

Address correspondence to Prof Christine Klein, Institute of Neurogenetics, University of Lübeck, Maria-Goeppert-Strasse 1, 23562 Lübeck, Germany, christine.klein@neuro.uni-luebeck.de.

Relationship Disclosure: Dr Morgante serves on the scientific advisory board of Allergan and serves as a speaker for Chiesi, Lundbeck, Medtronic, Novartis, and UCB. Dr Morgante serves on the editorial advisory board of Frontiers in Movement Disorders. Dr Klein serves as a consultant for Centogene and as a speaker for Boehringer Ingelheim and Orion Corporation. Dr Klein serves on the editorial board of Neurology and as a course faculty member for the American Academy of Neurology. Dr Klein is the recipient of a career development award from the Hermann and Lilly Schilling Foundation; receives support from Deutsche Forschungsgemeinschaft, Possehl Foundation, and Volkswagen Foundation; and has received institutional support from the University of Lübeck for genetics research.

Unlabeled Use of Products/Investigational Use Disclosure: Drs Morgante and Klein report no disclosures.

Supplemental digital content: Videos accompanying this article are cited in the text as Supplemental Digital Content. Videos may be accessed by clicking on links provided in the HTML, PDF, and iPad versions of this article; the URLs are provided in the print version. Video legends begin on page 1238.

© 2013 American Academy of Neurology
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