The genetics of the dystonias – a review based on the new classification of the dystonias

Camargo, Carlos Henrique Ferreira; Camargos, Sarah Teixeira; Cardoso, Francisco; Teive, Hélio A.G.

doi:10.1590/0004-282x20150030

Cited by 9 publications

(5 citation statements)

References 54 publications

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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%

Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation

Bezerra

Novaretti

Cunha

et al. 2018

Arq. Neuro-Psiquiatr.

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Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. We identified 289 patients with primary dystonia over a 12-month period, of whom235 underwent a detailed evaluation. Patients with primary dystoniamade up one-sixth of all patients evaluated at the service where the study was conducted, with an estimated local prevalence of 19.8/100,000 inhabitants. The clinical and demographic characteristics of the patients were similar to those described elsewhere, with blepharospasm as the most common focal dystonia and most patients using sensory tricks that they judged useful on a day-to-day basis. The application of the new classification was easy and simple, and the systematic approach allowed for a better clinical characterization of our patients. We recognized two dystonic syndromes that were not described in the original article that proposed the classification, and suspected that the arbitrary distinction between generalized and multifocal dystonia seems not to be useful for patients with primary dystonia. In conclusion, the prevalence and clinical characteristics of our patients were not distinct from other studies and the new classification was shown to be practical and useful to characterize patients with dystonia.

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Section: Dystonia Syndrome Nsupporting

confidence: 67%

Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation

Bezerra

Novaretti

Cunha

et al. 2018

Arq. Neuro-Psiquiatr.

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“…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%

Genetic of dystonias according the new classification

Rieder

2015

Arq. Neuro-Psiquiatr.

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“…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%

Searching for neurological diseases in the Julio-Claudian dynasty of the Roman Empire

Camargo

Teive

2018

Arq. Neuro-Psiquiatr.

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The gens Julia was one of the oldest families in ancient Rome, whose members reached the highest positions of power. They made history because Julius Caesar, perpetual dictator, great-uncle of the first emperor, Augustus, passed his name on to the Julio-Claudian dynasty with the emperors Tiberius, Caligula, Claudius and Nero. Descriptions of the diseases of these emperors and some of his family members may indicate diagnoses such as epilepsy, dystonia, dementia, encephalitis, neurosyphilis, peripheral neuropathies, dyslexia, migraine and sleep disorders. In the historical context of ancient Rome, the possibility of infectious diseases related to the libertine way of life is quite large. However, there is a possibility that some of these diseases occurred from genetic transmission.

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The genetics of the dystonias – a review based on the new classification of the dystonias

Cited by 9 publications

References 54 publications

Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation

Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation

Genetic of dystonias according the new classification

Searching for neurological diseases in the Julio-Claudian dynasty of the Roman Empire

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