A5103868455- Neurological disorders and treatments
- Enzyme Structure and Function
- Botulinum Toxin and Related Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Magnetic Properties of Alloys
- Rare-earth and actinide compounds
- Magnetic properties of thin films
- Genetic Neurodegenerative Diseases
- Protein Structure and Dynamics
- Porphyrin Metabolism and Disorders
- Metalloenzymes and iron-sulfur proteins
- Bacteriophages and microbial interactions
- Advanced NMR Techniques and Applications
- Transcranial Magnetic Stimulation Studies
- RNA and protein synthesis mechanisms
- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- Metal complexes synthesis and properties
- Atherosclerosis and Cardiovascular Diseases
- Crystal structures of chemical compounds
- Reproductive Biology and Fertility
- Robotics and Sensor-Based Localization
- Advanced Neuroimaging Techniques and Applications
- Parkinson's Disease and Spinal Disorders
- Systemic Lupus Erythematosus Research
Vivantes Klinikum
2008-2024
Bayer (Germany)
2007-2020
Innsbruck Medical University
2005-2017
Bayer (France)
2015
University Hospital Magdeburg
2014
Fraunhofer Institute of Optronics, System Technologies and Image Exploitation
2010
Oregon Health & Science University
2007
Oregon National Primate Research Center
2007
University Hospital Innsbruck
2001-2005
Universität Innsbruck
2001-2005
Clinical heterogeneity, a hallmark of systemic autoimmune diseases, impedes early diagnosis and effective treatment, issues that may be addressed if patients could classified into groups defined by molecular pattern. This study was undertaken to identify clusters for reclassifying diseases independently clinical diagnosis.Unsupervised clustering integrated whole blood transcriptome methylome cross-sectional data on 955 with 7 267 healthy controls undertaken. In addition, an inception cohort...
The parkinson variant of multiple system atrophy (MSA-P) and progressive supranuclear palsy (PSP) present with atypical parkinsonism, which may be misdiagnosed as PD, particularly in early disease stages. It was previously shown that diffusion-weighted MRI (DWI) is a sensitive tool to discriminate MSA-P from PD based on increased apparent diffusion coefficients (ADCs) the putamen. In this study DWI evaluated 10 patients PSP compared 13 12 MSA-P.Disease diagnosed according established...
The clinical diagnosis of multiple system atrophy (MSA) is fraught with difficulty and there are no pathognomonic features to discriminate the parkinsonian variant (MSA-P) from Parkinson's disease (PD). Besides poor response levodopa, additional presence pyramidal or cerebellar signs (ataxia) autonomic failure as major diagnostic criteria, certain other known "red flags" warning may raise suspicion MSA. To study role these in MSA-P versus PD patients, a standardized red flag check list...
ABSTRACT Background Dystonia is clinically and genetically heterogeneous. Despite being a first‐line testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet been evaluated in dystonia diagnostics. We set up pilot study to address the yield of early‐onset generalized dystonia, disease subtype enriched monogenic causation. Methods Clinical coupled with bioinformatics analysis detailed phenotyping mutation carriers was performed on 16 consecutive cases undefined...
The present study assessed patterns of brain tissue alterations in different types primary dystonia using voxel-based morphometry (VBM). Nine patients with generalized (GD), 11 cervical (CD), and focal hand (FHD) as well 31 age gender-matched controls were included. When compared healthy controls, (n=31) showed gray matter volume increase bilaterally the globus pallidus internus, nucleus accumbens, prefrontal cortex, unilaterally left inferior parietal lobe. This is first VBM dystonia,...
As part of the first randomized, sham-stimulation controlled trial on deep brain stimulation (DBS) in primary segmental or generalized dystonia, health-related quality life (HRQoL) was assessed by SF-36. After 3-month sham-controlled phase, significant HRQoL improvement occurred only active-stimulation group. The open-label extension phase resulted a all SF-36 domains following 6 months neurostimulation. These results demonstrate favorable impact DBS dystonia.
Abstract Several studies have reported an increased risk to develop Parkinson's disease (PD) in essential tremor (ET) populations. Hyperechogenicity of the substantia nigra (SN) is a common transcranial sonography (TCS) finding PD and has been suggested as risk‐marker nonparkinsonian subjects. This study compared SN areas 44 ET patients with 100 controls patients. Sixteen percent had hyperechogenicity 3% 75% These findings might correspond PD. Long‐term follow‐up will show if those...
IntroductionPallidal deep brain stimulation (GPi-DBS) is an effective therapy for isolated dystonia, but 10–20% of patients show improvement below 25–30%. We here investigated causes insufficient response to GPi-DBS in dystonia a cross-sectional study.MethodsPatients with at time surgery, and <30% on the Burke-Fahn-Marsden dystonia-rating-scale (BFMDRS) after ≥6 months continuous were videotaped ON OFF stimulation, history, preoperative videos, MRI, medical records, settings, system...
Abstract Both diffusion weighted magnetic resonance imaging (DWI) of the basal ganglia and meta ‐iodobenzylguanidin (MIBG) scintigraphy heart have been reported useful in differential diagnosis patients with Parkinson's disease (PD) vs. parkinson variant multiple system atrophy (MSA‐P). Their diagnostic value, however, has never directly compared parkinsonism autonomic dysfunction. We studied 9 PD MSA‐P matched for age severity. Regional trace tensor values were determined putamina. Cardiac...
Abstract Dystonia is a neurological movement disorder characterised by abnormal involuntary movements and postures, particularly affecting the head neck. However, current clinical assessment methods for dystonia rely on simplified rating scales which lack ability to capture intricate spatiotemporal features of dystonic phenomena, hindering management limiting understanding underlying neurobiology. To address this, we developed visual perceptive deep learning framework that utilizes standard...
Abstract Endometriosis is a common gynaecological disease of women in reproductive age, and thought to arise from retrograde menstruation implantation endometrial tissue, mostly into the peritoneal cavity. The condition characterized by chronic, unresolved inflammatory process thereby contributing pain as cardinal symptom endometriosis. Elevated reactive oxygen species (ROS) oxidative stress have been postulated factors endometriosis pathogenesis. We here set out for systematic study...
Summary: Purpose: Valproate (VPA) induces postural tremor in 6–45% of patients. The characteristics VPA‐induced have not yet been quantitatively assessed, and it is known whether prevalence or severity affected by VPA formulation (controlled‐release CR‐VPA vs. conventional VPA). aim this study was to assess epilepsy patients receiving compare the effects two formulations (CR‐VPA VPA) on severity. Methods: In a prospective study, 18 consecutive with newly diagnosed focal generalized were...
We performed a placebo‐controlled cross‐over trial of riluzole (100 mg b.i.d.) in 10 patients with probable multiple system atrophy (MSA) administering and placebo for 4 weeks each 4‐week washout period. Outcome measures evaluated short‐term anti‐Parkinsonian effects using the Unified Parkinson's Disease Rating Scale (UPDRS) subscales (UPDRS‐II, activities daily living; UPDRS‐III, motor examination; sum UPDRS‐II ‐III) before at end treatment phase. Delta values were calculated by subtracting...
Abstract Background Patients with dyskinetic cerebral palsy are often severely impaired limited treatment options. The effects of deep brain stimulation (DBS) less pronounced than those in inherited dystonia but can be associated favorable quality life outcomes even patients without changes severity. Objective aim is to assess DBS pediatric pharmacorefractory focus on life. Methods method used a prospective, single‐arm, multicenter study. primary endpoint improvement (CPCHILD [Caregiver...
Abstract Patients with cranial and cervical dystonia (CCD) suffer from visible involuntary facial, head, neck movements. Therefore, the social appearance of patients CCD may be seriously affected self‐perceived stigma can a major source disability. The present study investigated enacted stigmatization CCD. In pilot study, semantic differential scale for assessment was constructed validated. final contained eight items representing personality traits to rated on seven‐point (−3 negative...
Deep brain stimulation (DBS) has been increasingly used in the management of dyskinetic cerebral palsy (DCP). Data on long-term effects and safety profile are rare.We assessed efficacy pallidal DBS pediatric patients with DCP.The STIM-CP trial was a prospective, single-arm, multicenter study which from parental agreed to be followed-up for up 36 months. Assessments included motor non-motor domains.Of 16 initially, 14 (mean inclusion age years) were assessed. There significant change...
A 3-base pair (GAG) deletion in the DYT1 gene has recently been found to be responsible for most cases of early-onset primary generalized dystonia. In some cases, this mutation associated with writer's cramp. To determine frequency a larger series patients, we examined 44 index patients sporadic or familial (seven patients) cramp presence GAG deletion, including eight segmental dystonia involving at least one upper limb. We none these which confirms that isolated is only rare phenotypic...
Abstract The basal ganglia seem to be involved in emotional processing. Primary dystonia is a movement disorder considered result from dysfunction, and the aim of present study was investigate emotion recognition patients with primary focal dystonia. Thirty‐two cranial (n = 12) cervical 20) were compared 32 healthy controls matched for age, sex, educational level on facially expressed labeling (FEEL) test, computer‐based tool measuring person's ability recognize emotions. Patients cognitive...