BACKGROUND Observations of comorbid depression in subjects with primary dystonia have suggested a dual role for the TOR1A gene in mood disorders and movement disorders. We conducted a systematic search for carriers of the ΔGAG deletion and for other variants in TOR1A exon 5 among 414 Caucasian subjects with recurrent major depression from the Upper Palatinate. FINDINGS Allele frequencies were...

The aim of this study was to assess the presence of DYT6 mutations in Polish patients with isolated dystonia and to characterize their phenotype. We sequenced THAP1 exons 1, 2 and 3 including exon-intron boundaries and 5'UTR fragment in 96 non-DYT1 dystonia patients. In four individuals single nucleotide variations were identified. The coding substitutions were: c. 238A>G (p.Ile80Val), found in...

Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failu...

Pallidal deep brain stimulation (DBS) is currently the most effective treatment for advanced, medically refractory dystonia. However, factors predicting clinical outcome are not well defined. We reviewed the clinical records of 39 consecutive patients with medically refractory primary dystonia who underwent pallidal DBS implants. Thirty-five patients were implanted bilaterally and four unilater...