Objective: To associate clinical data of dystonia patients with the TOR1-A gene mutation in Peru.

Background: DYT1 dystonia is a severe generalized form of early-onset dystonia, and the most frequent primary dystonia worldwide. It is caused by the c.907GAGdel mutation on the TOR1-A gene at chromosome 9q34. Molecular diagnosis of this mutation is available in Peru since 2014.

Methods: We performed a systematic review of 31 clinical records of patients with primary dystonia (focal, segmental, multifocal and generalized) that had available DNA and were recruited through the Movement Disorders Clinic and Neurogenetics Research Center of the Instituto Nacional de Ciencias Neurologicas in Peru from 2003 to 2015. The c.907GAGdel analysis was performed using PCR and enzymatic digestion following standard protocols. Demographic and clinical data were analyzed for all positive cases.

Results: The c.907GAGdel on TOR1-A gene mutation was confirmed for 7 individuals (22.6%). 5/7 of cases were male. 2/7 patients declared dominant family history. The average age of onset was 10.7 ± 2.9 years. Patients initially presented with symptoms in the lower limbs in 57.1% of cases, with dystonic symptoms becoming generalized over the years. Pharmacologic treatment included anticholinergics (57.1%); and clonazepam (42.9%), with a variable response among the cases. 3 cases received a levodopa trial with no clinical response. 2 cases (28.6%) achieved significant control of dystonic symptoms with higher anticholinergic doses. 2 cases received surgical treatment with deep brain stimulation (DBS) and pallidotomy respectively with both showing significant clinical improvement.

Conclusions: This is the first report of DYT1 cases with confirmed molecular diagnosis within a Peruvian population. The c.907GAGdel mutation is a significant cause of generalized dystonia in this retrospective cohort, and should be included in the differential diagnosis of early onset dystonia independently of family history status.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-and-molecular-features-of-dyt1-primary-dystonia-in-a-peruvian-population/