Publications by authors named "Thorsten Odorfer"

Article Synopsis
  • Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
  • The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
  • Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
View Article and Find Full Text PDF

The remarkable increase in human life expectancy over the past century has been achieved at the expense of the risk of age-related impairment and disease. Neurodegeneration, be it part of normal aging or due to neurodegenerative disorders, is characterized by loss of specific neuronal populations, leading to increasing clinical impairment. The individual course may be described as balance between aging- or disease-related pathology and intrinsic mechanisms of adaptation.

View Article and Find Full Text PDF

Background: Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and genetic spectrum and the frequency of pathogenic variants in these genes have not yet been fully elucidated, neither in patients with dystonia nor with other, sometimes co-occurring movement disorders such as Parkinson's disease (PD).

Objectives: To screen >2000 patients with dystonia or PD for rare variants in known dystonia-causing genes.

View Article and Find Full Text PDF

(1) Background: The first-line treatment for patients with focal or segmental dystonia with a craniocervical distribution is still the intramuscular injection of botulinum neurotoxin (BoNT). However, some patients experience primary or secondary treatment failure from this potential immunogenic therapy. Deep brain stimulation (DBS) may then be used as a backup strategy in this situation.

View Article and Find Full Text PDF

Background: Subthalamic nucleus deep brain stimulation (STN-DBS) is an effective treatment for advanced Parkinson's disease (PD). Clinical outcomes after DBS can be limited by poor programming, which remains a clinically driven, lengthy and iterative process. Electrophysiological recordings in PD patients undergoing STN-DBS have shown an association between STN spectral power in the beta frequency band (beta power) and the severity of clinical symptoms.

View Article and Find Full Text PDF

Introduction: Dystonia is a movement disorder of variable etiology and clinical presentation and is accompanied by tremor in about 50% of cases. Monogenic causes in dystonia are rare, but also in the group of non-monogenic dystonias 10-30% of patients report a family history of dystonia. This points to a number of patients currently classified as idiopathic that have at least in part an underlying genetic contribution.

View Article and Find Full Text PDF

Mental rotation (mR) bases on imagination of actual movements. It remains unclear whether there is a specific pattern of mR impairment in focal dystonia. We aimed to investigate mR in patients with cervical dystonia (CD) and blepharospasm (BS) and to assess potential confounders.

View Article and Find Full Text PDF

Deep brain stimulation (DBS) programming is based on clinical response testing. Our clinical pilot trial assessed the feasibility of image-guided programing using software depicting the lead location in a patient-specific anatomical model. Parkinson's disease patients with subthalamic nucleus-DBS were randomly assigned to standard clinical-based programming (CBP) or anatomical-based (imaging-guided) programming (ABP) in an 8-week crossover trial.

View Article and Find Full Text PDF

Background: Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibility.

Objective: To identify robust genetic variants and loci in a large multicenter cervical dystonia cohort using a genome-wide approach.

View Article and Find Full Text PDF

Background: There is growing evidence for proprioceptive dysfunction in patients with Parkinson's disease (PD). The Lee Silvermann Voice Treatment-BIG therapy (LSVT-BIG), a special training program aiming at an increase of movement amplitudes in persons with PD (PwPD), has shown to be effective on motor symptoms. LSVT-BIG is conceptionally based on improving bradykinesia, in particular the decrement of repetitive movements, by proprioceptive recalibration.

View Article and Find Full Text PDF

Background: Increasing attention is payed to the contribution of somatosensory processing in motor control. In particular, temporal somatosensory discrimination has been found to be altered differentially in common movement disorders. To date, there have only been speculations as to how impaired temporal discrimination and clinical motor signs may relate to each other.

View Article and Find Full Text PDF

In the rubber hand illusion (RHI), illusory bodily ownership is induced by synchronous touch of a participant's hidden hand and a visible surrogate. This paradigm allows investigating how the brain resolves conflicting multisensory evidence during perceptual inference. Previous studies suggest that the conflict between visual and proprioceptive information preceding the RHI is solved by attenuation of the somatosensory input.

View Article and Find Full Text PDF

Cervical dystonia is a movement disorder causing abnormal postures and movements of the head. While the exact pathophysiology of cervical dystonia has not yet been fully elucidated, a growing body of evidence points to the cerebellum as an important node. Here, we examined the impact of cerebellar interference by transcranial magnetic stimulation on finger-tapping related brain activation and neurophysiological measures of cortical excitability and inhibition in cervical dystonia and controls.

View Article and Find Full Text PDF

Background: Selective peripheral denervation via botulinum neurotoxin injections into dystonic muscles is the first-line treatment for cervical dystonia. Pallidal neurostimulation is a potent alternative, but currently restricted to patients failing on neurotoxin therapy. As botulinum neurotoxin is partially effective but often unsatisfactory in a relevant proportion of patients, earlier neurostimulation might be advantageous in providing stable symptom control and preventing disability.

View Article and Find Full Text PDF

In relapsing-remitting MS (RRMS), the symptoms of a clinical relapse subside over time. Neuroplasticity is believed to play an important compensatory role. In this study, we assessed excitability-decreasing plasticity during an acute relapse of MS and 12 weeks afterwards.

View Article and Find Full Text PDF

Borderline personality (BPD) and complex posttraumatic stress disorders (PTSD) are both powerfully associated with the experience of interpersonal violence during childhood and adolescence. The disorders frequently co-occur and often result in pervasive problems in, e.g.

View Article and Find Full Text PDF

Schizophrenia and psychotic disorders represent psychiatric disease patterns characterized by remarkable impairment arising from alterations in cognition, perception, and mood. Although these severe illnesses have been known for more than 100 years, psychopharmacological treatment of their characteristically broad spectrum of symptoms as well as patients' quality of life, compliance, and time to relapse still remain a challenge in everyday clinical practice. In the following, we will provide a brief synopsis of first-generation antipsychotics (FGAs) followed by a detailed description of current second-generation antipsychotics (SGAs) along with their effects and side effects to evaluate unmet needs in the treatment of schizophrenia and psychotic disorders.

View Article and Find Full Text PDF

The agency facet of extraversion has been hypothesized to be based on individual differences in dopamine activity. Recent work suggests that resting posterior minus frontal electroencephalographic (EEG) slow oscillations (delta, theta) is both consistently associated with extraversion and sensitive to dopamine D2 receptor antagonist-induced changes in dopaminergic activity. Here we examine for the first time the interrelations between polymorphisms of the dopamine D2 receptor (DRD2) gene (rs1800497 [previously termed TAQ1A], rs1076560, rs1799732 [-141C Ins/Del]), extraversion and resting posterior minus frontal (Pz-Fz) slow oscillations.

View Article and Find Full Text PDF