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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Abstract

CAMARGO, Carlos Henrique F. et al. Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia. Arq. Neuro-Psiquiatr. [online]. 2014, vol.72, n.10, pp.753-756. ISSN 0004-282X.  https://doi.org/10.1590/0004-282X20140123.

Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia.

Objective

To associate clinical information of patients with dystonia with the TOR1-A gene mutations.

Method

Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols.

Results

Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization.

Conclusion

We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia.

Keywords : dystonia; cervical dystonia; DYT1; genetic.

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