2015
DOI: 10.1590/0004-282x20150030
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The genetics of the dystonias – a review based on the new classification of the dystonias

Abstract: The definition and classification of the dystonias was recently revisited. In the new 2013 classification, the dystonias are subdivided in terms of their etiology according to whether they are the result of pathological changes or structural damage, have acquired causes or are inherited. As hereditary dystonias are clinically and genetically heterogeneous, we sought to classify them according to the new recently defined criteria. We observed that although the new classification is still the subject of much deb… Show more

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Cited by 9 publications
(5 citation statements)
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“…As previously suggested, the MDS classification seems to be an easy-to-use procedure for classifying patients with dystonia, and we did not observe any practical obstacles to its application 17,18 . There were no significant changes in the characterization of patients according to the distribution of dystonia in the body, except for the new definition of generalized and multifocal dystonia.…”
Section: Dystonia Syndrome Nsupporting
confidence: 67%
“…As previously suggested, the MDS classification seems to be an easy-to-use procedure for classifying patients with dystonia, and we did not observe any practical obstacles to its application 17,18 . There were no significant changes in the characterization of patients according to the distribution of dystonia in the body, except for the new definition of generalized and multifocal dystonia.…”
Section: Dystonia Syndrome Nsupporting
confidence: 67%
“…New genetic technologies has markedly accelerated the process of genes discovery related to dystonias 5 . In this edition of Arquivos de Neuro-Psiquiatria, Camargo et al 6 , present a review of genetics of dystonias based on the new classification. The authors present the inherit dystonias according to the clinical aspects of the new classification such as age at onset, if isolated or combined, and intermittent patterns.…”
mentioning
confidence: 99%
“…This description seems to point to a generalized dystonia and its peculiar characteristics, with the onset at the transition of childhood to adolescence. Remembering Tiberius' clinical signs of a possible segmental dystonia, with cervical spine predominance, as well as dysphonia, one could postulate the possibility of a dystonia type DYT6, with reduced penetrance, in this family 6 . Claudius' son, Britannicus, the fruit of his relationship with his cousin Messalina, had epileptic seizures, probably a generalized primary epilepsy, between six and 13 years of age 2,4,10 .…”
Section: Claudiusmentioning
confidence: 95%