Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia

Abstract

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.

NewTHAP1mutation and role of putative modifier inTOR1A

“…A subsequent study, including 88 patients, identified two subjects with the typical c.907_909delGAG mutation on TOR1A . However, patients were not evaluated for THAP1 . A third study performed in 74 patients (possibly some were present in the previous cohort) with dystonia identified no mutations in TOR1A and four mutations in THAP1 (frequency of 5.4%).…”

Caracterização clínica e genética de pacientes com distonia de etiologia desconhecida, isolada ou combinada

“…Os pacientes apresentavam distonia de diferentes distribuições corpóreas (generalizada em um terço dos casos), todos com acometimento da região cervical 131 .…”