Autonomic control of heart and vessels in patients with very early stage of Parkinson disease.

Objective. Non-motor symptoms including those reflecting autonomic cardiovascular dysregulation are often present in Parkinson disease. It is unclear whether it is possible to detect cardiovascular autonomic dysregulation in the very early stage of Parkinson disease potentially supporting the concept of the upstream propagation of nervous system damage through autonomic nerves. We hypothesized that cardiovascular dysregulation should precede the motor symptoms and at the time of their occurrence autonomic dysregulation should be clearly demonstrable. Therefore, the aim of this study was to assess the various aspects of autonomic cardiovascular control in the very early stage of Parkinson disease.Approach. We performed prospective case-control study on 19 patients with Parkinson disease (<6 months after motor signs occurrence) and 19 healthy control subjects. For each phase of study protocol (supine, head-up tilt, supine recovery), we calculated a wide array of cardiovascular control related parameters reflecting cardiac chronotropic, cardiac inotropic and vasomotor control and baroreflex mediated cardiovascular response.Main results. We observed the well-preserved heart rate and blood pressure control in patients with early stage of Parkinson disease. However, causal analysis of interactions between heart rate and blood pressure oscillations revealed subtle differences in baroreflex function and baroreflex mediated vasoconstriction response to orthostasis. Furthermore, a tendency towards a decreased contraction strength in Parkinson disease was observed.Significance. Considering only subtle cardiovascular control impairment in our study employing a wide array of sensitive methods at the time when motor signs were clearly expressed, we suggest that motor signs dominated in this stage of Parkinson disease.

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.

BACKGROUND: DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. CASE PRESENTATION: We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far. CONCLUSIONS: DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.