A5070608878- Neurological disorders and treatments
- Botulinum Toxin and Related Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Transcranial Magnetic Stimulation Studies
- Motor Control and Adaptation
- Neuroscience and Music Perception
- Genomics and Rare Diseases
- Advanced Neuroimaging Techniques and Applications
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Action Observation and Synchronization
- Functional Brain Connectivity Studies
- Genetics and Neurodevelopmental Disorders
- Voice and Speech Disorders
- HIV Research and Treatment
- Lysosomal Storage Disorders Research
- Pain Mechanisms and Treatments
- EEG and Brain-Computer Interfaces
- Advanced MRI Techniques and Applications
- Face Recognition and Perception
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Facial Nerve Paralysis Treatment and Research
- Epigenetics and DNA Methylation
Technical University of Munich
2016-2025
Klinikum rechts der Isar
2016-2025
Klinik und Poliklinik für Neurologie
2015-2023
Universitätsklinikum Tübingen
2023
Munich Cluster for Systems Neurology
2023
Neurologisches Fachkrankenhaus für Bewegungsstörungen/Parkinson
2023
Sony Computer Science Laboratories
2023
Hanover University of Music Drama and Media
2023
Meiji University
2023
John Wiley & Sons (United States)
2020
Event-related functional MRI (fMRI) was used to study blood oxygen level dependent cortical signal changes associated with volitional limb movements off and on levodopa in Parkinson's disease. Eight patients early stage akinetic disease eight healthy volunteers underwent three imaging runs (high speed echo planar 600 scans/run) while performing paced single joystick a freely chosen direction every 7–15 s. The non-magnetic linked monitoring system for on-line registration of performance...
Abstract Audiovisual perception and imitation are essential for musical learning skill acquisition. We compared professional pianists to musically naive controls with fMRI while observing piano playing finger–hand movements serial finger–thumb opposition both without synchronous sound. Pianists showed stronger activations within a fronto-parieto-temporal network contrasted of movements. Observation silent additionally recruited auditory areas in pianists. Perception sounds coupled evoked...
Abstract Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing (WES), 564 whole-genome (WGS), as well 80 fibroblast-derived proteomics datasets,...
Afferent feedback from muscles and skin has been suggested to influence our emotions during the control of facial expressions. Recent imaging studies have shown that imitation expressions is associated with activation in limbic regions such as amygdala. Yet, physiological interaction between this remains unclear. To study if effects on brain responses intentional expressions, we applied botulinum toxin (BTX)-induced denervation frown combination functional magnetic resonance a reversible...
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...
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number causative genes have not yet been recognized. We aimed to investigate this paucity diagnoses. Methods undertook weighted burden analysis whole‐exome sequencing (WES) data from 138 individuals unresolved generalized etiology, followed by additional case‐finding international databases, first for the gene implicated ( VPS16 ), and then other functionally...
ASPEN-1 was a phase 3, randomized, double-blind, placebo-controlled study to evaluate the efficacy, duration of response, and safety 2 doses DaxibotulinumtoxinA for Injection (DAXI), novel botulinum toxin type A formulation in participants with cervical dystonia (CD).
Abstract Bimanual motor coordination is essential for piano playing. The functional neuronal substrate high‐level bimanual performance achieved by professional pianists unclear. We compared to musically naïve controls while carrying out in‐phase ( mirror ) and anti‐phase parallel sequential finger movements during magnetic resonance imaging (fMRI). This task corresponds bimanually playing scales practiced daily from the beginning of Musicians showed significantly different activation...
Abstract We investigated the functional neuroanatomy of vowel processing. compared attentive auditory perception natural German vowels to nonspeech band‐passed noise stimuli using magnetic resonance imaging (fMRI). More specifically, mapping in cortex first and second formants was considered, which spectrally characterize are linked closely phonological features. Multiple exemplars were presented sequences alternating either mainly along formant (e.g., [u]‐[o], [i]‐[e]) or [u]‐[i], [o]‐[e])....
Disturbances in recognizing facial expressions of disgust have been reported previously pre-symptomatic and manifest Huntington's disease. Given the substantial role insula basal ganglia perception as revealed by functional imaging, lesion studies intracerebral recordings, we propose dysfunction within and/or underlying neural substrate. Using MRI (fMRI), studied a group nine disease gene carriers healthy controls, matched for age, gender, intelligence years education, while they were...
Abstract Deep brain stimulation (DBS) of the subthalamic nucleus (STN) has become an effective strategy in treatment motor symptoms advanced Parkinson's disease. However, clinical studies have shown that DBS can affect verbal fluency. Seven disease patients with bilateral STN were studied positron emission tomography (PET) to investigate effects on regional cerebral blood flow during a fluency task. Activation right orbitofrontal cortex and fluency‐associated activation within left‐sided...
Previous studies showed cortical dysfunction and impaired sensorimotor integration in primary generalized focal hand dystonia. We used a whistling task silent event-related fMRI to investigate functional changes patients with blepharospasm combination of oromandibular dystonia (Meige's syndrome). Whistling served as model for skilful orofacial movement high demand on integration. It allowed us study the motor system that is clinically affected Meige's syndrome but not isolated blepharospasm....
Embouchure dystonia is a focal task-specific affecting the complex interplay of lower facial, jaw, and tongue muscles in musicians playing brass or woodwind instruments. Although it highly disabling for affected patients, little known about pathophysiologic basis this rare movement disorder.We therefore studied sensorimotor activation patterns during 2 orofacial motor tasks players with embouchure by using fMRI. A "dystonia-specific" task involved buzzing at an instrument-specific, fully...
Parkinson's disease (PD) is a genetically heterogeneous disorder and new putative genes are discovered constantly. Therefore, whole-exome sequencing could be an efficient approach to genetic testing in PD. To evaluate its performance early-onset sporadic PD, we performed diagnostic exome 80 individuals with manifestation of PD symptoms at age 40 or earlier negative family history Variants validated candidate risk factors for atypical Parkinson syndromes were annotated, followed by further...
Task-specific focal hand dystonia impairs the control of arm muscles during fine motor skills such as writing (writer's cramp (WC)). Functional imaging found abnormal task-related activation sensorimotor areas in this disorder, but little is known on their functional connectivity (FC).Resting-state fMRI and regions interest (ROI)-voxel cross-correlation analyses were used for systematically analysing FC between multiple ROIs within cerebello-basal ganglia-thalamocortical network 15 patients...
<b>Objective: </b> To study with fMRI the pattern of sensorimotor activation in patients spasmodic dysphonia (laryngeal dystonia) compared to healthy controls. <b>Methods: The authors performed measurements during vocal motor tasks 12 laryngeal dystonia and them those volunteers. Patients were scanned before (pre) after (post) treatment local injections botulinum toxin (BTX). They examined two different tasks: simple vocalization inducing whispering without appearance dystonic symptoms....
Niemann-Pick type C (NPC) disease is a rare autosomal-recessively inherited lysosomal storage disorder caused by mutations in NPC1 (95%) or NPC2. Given the highly variable phenotype, diagnosis challenging and particularly late-onset forms with predominantly neuropsychiatric presentations are likely underdiagnosed. Pathophysiologically, genetic alterations compromising endosomal/lysosomal system linked age-related neurodegenerative disorders. We sought to examine possible association of...
Blepharospasm is characterized by involuntary eyelid spasms. It can be associated with perioral dystonia (Meige's syndrome or orofacial dystonia). We aimed at studying resting-state functional brain connectivity in these patients and its potential modulation therapeutic botulinum toxin injections. performed MRI a region of interest-based analysis 13 blepharospasm/Meige's comparison to healthy controls. Patients were studied before 4 weeks after treatment. Simultaneous facial electromyography...
ABSTRACT Background Rare autosomal‐dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement. Methods We used high‐resolution melting screen all exons of for rare sequence variants a population 342 German individuals mainly sporadic PTD 376 general controls. Results identified 2 missense (p.Ile833Val p.Gly973Arg) 1 variant (p.Val146Met) three different nonfamilial...
Abstract DNA methylation classifiers (“episignatures”) help to determine the pathogenicity of variants uncertain significance (VUS). However, their sensitivity is limited due training on unambiguous cases with strong-effect so that classification reduced effect size or in mosaic state may fail. Moreover, episignature evaluation mosaics as a function degree mosaicism has not been developed far. We improved episignatures respect three categories. Applying (i)...
ABSTRACT Background While automated methods for differential diagnosis of parkinsonian syndromes based on MRI imaging have been introduced, their implementation in clinical practice still underlies considerable challenges. Objective To assess whether the performance classifiers derived biomarkers is improved with addition basic information and to provide a practical solution address insecurity classification results due uncertain they are on. Methods Retro‐ prospectively collected data from...