Johanna Junker
A5013367189- Botulinum Toxin and Related Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Neurological diseases and metabolism
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- CRISPR and Genetic Engineering
- Autism Spectrum Disorder Research
- Nuclear Receptors and Signaling
- Cerebral Palsy and Movement Disorders
- Lysosomal Storage Disorders Research
- Acupuncture Treatment Research Studies
- Neurogenetic and Muscular Disorders Research
- Neuroscience and Music Perception
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Terrorism, Counterterrorism, and Political Violence
- Healthcare Decision-Making and Restraints
- Motor Control and Adaptation
- Hereditary Neurological Disorders
- Genetic Associations and Epidemiology
- Tactile and Sensory Interactions
- Complementary and Alternative Medicine Studies
- Vestibular and auditory disorders
- Pediatric Pain Management Techniques
University of Lübeck
2017-2025
University Hospital Schleswig-Holstein
2017-2024
The Neurological Institute
2020
Louis Stokes Cleveland VA Medical Center
2020
Sorbonne Université
2018
University of Colorado Anschutz Medical Campus
2018
University of Tennessee Health Science Center
2016
Emory University
2016
Vanderbilt University
2016
Vodafone Foundation
2010
Depression and anxiety frequently accompany the motor manifestations of isolated adult-onset focal dystonias. Whether body region affected when this type dystonia first presents is associated with severity these neuropsychiatric symptoms unknown.The aim study was to determine whether depression, social vary by onset site evaluate pain account for any differences.Patients evaluated within 5 years from symptom onset, enrolled in Natural History Project Dystonia Coalition, were included...
Objective Isolated focal dystonia can spread to muscles beyond the initially affected body region, but risk of has not been evaluated in a prospective manner. Furthermore, regions at for and clinical factors associated with are well characterised. We sought here prospectively characterise recently diagnosed adult-onset isolated patients. Methods Patients enrolled Dystonia Coalition affecting only neck, upper face, hand or larynx onset symptoms were included. Timing follow-up visits was based...
To assess the clinical manifestations and predictors of different types tremors in individuals with isolated dystonia.Clinical tremor were assessed a multicenter, international cross-sectional, cohort study 2,362 all dystonia (focal, segmental, multifocal, generalized) recruited through Dystonia Coalition.Methodical standardized assessments participants this revealed overall prevalence any type was 53.3%. The dystonic varied from 36.9% to 48.4%, depending on criteria used define it. identify...
The Monogenic Network of the Global Parkinson's Genetics Program (GP2) aims to create an efficient infrastructure accelerate identification novel genetic causes disease (PD) and improve our understanding already identified causes, such as reduced penetrance variable clinical expressivity known disease-causing variants. We aim perform short- long-read whole-genome sequencing for up 10,000 patients with parkinsonism. Important features this project are global involvement focusing on...
The Global Parkinson's Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic clinical data for use in large-scale analyses to dramatically expand our understanding of architecture PD. This report details workflow cohort integration into complex arm GP2, together with outline monogenic hub a companion paper, provides generalizable blueprint establishing large scale collaborative research consortia.
To determine the frequency of medication use in patients with dystonia enrolled an international biorepository study.In a cross-sectional analysis, we included 2,026 participants at 37 sites United States, Canada, Europe, and Australia through Project 1 Dystonia Coalition, study. The primary aim was to assess classes recommended for treating dystonia, secondary compare characteristics (disease type, age, sex, duration disease, comorbid conditions, severity).Querying database presence any...
<h3>Objective:</h3> To characterize the clinical and genetic features of cervical dystonia (CD). <h3>Methods:</h3> Participants enrolled in Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included this study (n = 1,000). Data intake demographics, family history, Global Rating Scale. screened for sequence variants (SVs) <i>GNAL</i>, <i>THAP1</i>, Exon 5 <i>TOR1A</i>. <h3>Results:</h3> The majority participants Caucasian (95%) female (75%). mean age at...
Objective To evaluate the relationship between health-related quality of life (HR-QoL) and both physical psychiatric factors in a large, international, multicentre cohort patients with isolated dystonia, Dystonia Coalition. Methods Natural history data from 603 dystonia (median age 57 years (IQR: 48 to 64 years), 67.0% women) were prospectively acquired analysed. HR-QoL (RAND 36-Item Health Survey), severity depressive symptoms, generalised anxiety (Hospital Anxiety Depression Scale) social...
Abstract Background Pathogenic variants in several genes have been linked to genetic forms of isolated or combined dystonia. The phenotypic and spectrum the frequency pathogenic these not yet fully elucidated, neither patients with dystonia nor other, sometimes co‐occurring movement disorders such as Parkinson's disease (PD). Objectives To screen >2000 PD for rare known dystonia‐causing genes. Methods We screened 1207 from Germany (DysTract consortium), Spain, South Korea, 1036 using a...
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale.
Abstract LRRK2 -PD represents the most common form of autosomal dominant Parkinson’s disease. We identified p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping shared a haplotype. The clinical presentation resembles other forms. Combined published functional evidence showing strongly enhanced kinase activity, we provide that is pathogenic.
The use of complementary and alternative medicine (CAM) is increasing worldwide, especially by patients with chronic diseases. To date, no data are available about utilization perceived effectiveness CAM in dystonia. A questionnaire survey on costs was completed 180 members the German Dystonia Society, a patient advocate group. In total, 131 dystonia (73%) were current or former users CAM, 55 used addition to botulinum toxin injections, 86 had experience three more methods. options most...
To determine predictors of alcohol responsiveness in a large cohort patients with dystonia.A total 2,159 participants dystonia were prospectively enrolled the cross-sectional Dystonia Coalition multicenter study. Patients secondary, combined, or confirmed genetic (total n = 164) unknown (n 737) excluded. answered standardized questionnaire and clinically examined using video protocol Burke-Fahn-Marsden Rating Scale. Alcohol was determined by patients' self-report.A 1,258 isolated (mean age:...
Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace PD worldwide, Michael J. Fox Foundation Global Monogenic (MJFF GMPD) Project, contacted authors publications reporting individuals carrying pathogenic variants known PD-causing genes. In contrast, the Genetics Program's (GP2)...
Dystonia is conceptualized as a network disorder involving basal ganglia, thalamus, sensorimotor cortex and the cerebellum. The cerebellum has been implicated in dystonia pathophysiology, but studies testing cerebellar function patients have provided equivocal results. This study aimed to further elucidate motor deficits cervical with special interest role of To this end we investigated learning tasks, that differ their dependence on ganglia functioning. In 18 age matched healthy controls...
Abstract The temporal discrimination threshold (TDT) has been established as a biomarker of impaired processing and endophenotype in various forms focal dystonia patients, such cervical dystonia, writer’s cramp or blepharospasm. role TDT musician’s (MD) contrast is less clear with preceding studies reporting inconclusive results. We therefore compared between MD healthy musicians non-musician controls using previously described visual, tactile, visual-tactile paradigm. Additionally, we the...
Abstract Objective To determine longitudinal predictors of health-related quality life (HR-QoL) in an international multicenter cohort patients with isolated dystonia. Methods Out 603 dystonia prospectively enrolled the Natural History Dystonia Coalition study, 155 were assessed three times within 2 years for HR-QoL, symptoms depression, generalized anxiety disorder (GAD), and social (SAD), as well severity dystonic tremor. In addition, impact botulinum neurotoxin (BoNT) injections on HR-QoL...
Abstract The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure accelerate identification novel genetic causes disease (PD) and improve our understanding already identified causes, such as reduced penetrance variable clinical expressivity known disease-causing variants. We aim perform short- long-read whole-genome sequencing for up 10,000 patients with parkinsonism.
Introduction: Cerebral palsy (CP) is one of the most common reasons for spastic paresis in children. More than half patients suffer from chronic pain. So far it unknown if pain primarily origin neuropathic ore nociceptive mechanisms. This important therapy. The German Research Network on Neuropathic Pain (DFNS) established a standardised QST protocol encompassing all somatosensory modalities to assess functioning different nerve fibers, lemniscal and extralemniscal system other central...