The German Vehicle Mileage Survey 2014: Striking the balance between methodological innovation and continuity

Vehicle kilometers travelled (VKT) directly reflect the extent of spatial interaction within society and economy. VKT is also a key figure to quantify the use of road infrastructure. Consequently, VKT is one of the most important statistical indicators in traffic and transport. For a country with substantial cross-border transport relations such as Germany, VKT must be differentiated in national and domestic VKT: national VKT is the mileage of vehicles registered in Germany while domestic VKT is the mileage on German territory by German and foreign vehicles. This paper presents the most current German VKT survey, Fahrleistungserhebung (FLE) 2014, which comprised two elements: a motor vehicle owner survey to measure national VKT and traffic counts to measure domestic VKT. Vehicle mileage figures with deep stratification of both national and domestic VKT can only be generated through such special empirical studies. The focus of this paper is on the vehicle owner survey and national VKT

Observing repetitive finger movements modulates response times of auditorily cued finger movements

Our motor and perceptual representations of actions seem to be intimately linked and the human mirror neuron system (MNS) has been proposed as the mediator. In two experiments, we presented biological or non-biological movement stimuli that were either congruent or incongruent to a required response prompted by a tone. When the tone occurred with the onset of the last movement in a series, i.e., it was perceived during the movement presentation, congruent biological stimuli resulted in faster reaction times than congruent non-biological stimuli. The opposite was observed for incongruent stimuli. When the tone was presented after visual movement stimulation, however, no such interaction was present. This implies that biological movement stimuli only affect motor behaviour during visual processing but not thereafter. These data suggest that the MNS is an “online” system; longstanding repetitive visual stimulation (Experiment 1) has no benefit in comparison to only one or two repetitions (Experiment 2)

The European Reference Network for Rare Neurological Diseases

European reference network; Rare neurological diseases; Virtual healthcareXarxa europea de referència; Malalties neurològiques rares; Assistència sanitària virtualRed europea de referencia; Enfermedades neurologicas raras; Asistencia sanitaria virtualWhile rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. In 2017, 24 European Reference Networks (ERNs), each focusing on a specific group of rare or low-prevalence complex diseases, were formed to improve the care for patients with an RD. One major aim is to have “the knowledge travel instead of the patient,” which has been put into practice by the implementation of the Clinical Patient Management System (CPMS) that enables clinicians to perform pan-European virtual consultations. The European Reference Network for Rare Neurological Diseases (ERN-RND) provides an infrastructure for knowledge sharing and care coordination for patients affected by a rare neurological disease (RND) involving the most common central nervous system pathological conditions. It covers the following disease groups: (i) Cerebellar Ataxias and Hereditary Spastic Paraplegias; (ii) Huntington's disease and Other Choreas; (iii) Frontotemporal dementia; (iv) Dystonia, (non-epileptic) paroxysmal disorders, and Neurodegeneration with Brain Iron Accumulation; (v) Leukoencephalopathies; and (vi) Atypical Parkinsonian Syndromes. At the moment, it unites 32 expert centers and 10 affiliated partners in 21 European countries, as well as patient representatives, but will soon cover nearly all countries of the European Union as a result of the ongoing expansion process. Disease expert groups developed and consented on diagnostic flowcharts and disease scales to assess the different aspects of RNDs. ERN-RND has started to discuss diagnostically unclear patients in the CPMS, is one of four ERNs that serve as foundation of Solve-RD, and has established an RND training and education program. The network will facilitate trial readiness through the establishment of an ERN-RND registry with a minimal data of all patients seen at the ERN-RND centers, thus providing a unique overview of existing genotype-based cohorts. The overall aim of the ERNs is to improve access for patients with RDs to quality diagnosis, care, and treatment. Based on this objective, ERNs are monitored by the European Commission on a regular basis to provide transparency and reassurance to the RD community and the general public.This work is generated within the European Reference Network for Rare Neurological Diseases—Project ID No. 739510

Intact Organization of Tactile Space Perception in Isolated Focal Dystonia

Background: Systematic perceptual distortions of tactile space have been documented in healthy adults. In isolated focal dystonia impaired spatial somatosensory processing is suggested to be a central pathophysiological finding, but the structure of tactile space for different body parts has not been previously explored. Objectives: The objective of this study was to assess tactile space organization with a novel behavioral paradigm of tactile distance perception in patients with isolated focal dystonia and controls. Methods: Three groups of isolated focal dystonia patients (cervical dystonia, blepharospasm/Meige syndrome, focal hand dystonia) and controls estimated perceived distances between 2 touches across 8 orientations on the back of both hands and the forehead. Results: Stimulus size judgments differed significantly across orientations in all groups replicating distortions of tactile space known for healthy individuals. There were no differences between groups in the behavioral parameters we assessed on the hands and forehead. Conclusions: Tactile space organization is comparable between patients with isolated focal dystonia and healthy controls in dystonic and unaffected body parts

Digitale Teilhabe

Das Themenheft Digitale Teilhabe beschäftigt sich zentral mit den Potentialen der Nutzung der neuen Informations- und Kommunikationstechnologien durch benachteiligte Menschen. Im Leitartikel wird der Versuch unternommen, mögliche theoretische Anknüpfungspunkte und Forschungsfragen für weitere Studien- und Forschungsarbeiten in dem noch jungen Themenfeld der Digitalen Teilhabe zu identifizieren. Hierzu wird zunächst das zugrunde liegende Verständnis von Behinderung/Benachteiligung diskutiert und inklusive (Medien-)Bildung als Teil der Persönlichkeitsbildung skizziert. In verschiedenen Diskursen bzw. Disziplinen werden dann theoretische Anknüpfungspunkte für weitere Forschungsarbeiten benannt. Die Idee für das Themenheft ist im Rahmen des Projekts "Begleitforschung im PIKSL-Labor" des Zentrums für Planung und Evaluation Sozialer Dienste der Uni Siegen (ZPE) entstanden. Das PIKSL-Projekt zielt darauf ab, Menschen mit Behinderungen moderne Kommunikationstechnologien zugänglich zu machen, um ihnen Teilhabemöglichkeiten zu erleichtern und zugleich die personale Abhängigkeit von professioneller Unterstützung zu reduzieren. Der inter- und transdisziplinäre Ansatz von PIKSL wird durch die Vielfalt der Artikel in dem Heft deutlich: Digitale Teilhabe wird nicht alleine aus (medien-)pädagogischer bzw. sozialwissenschaftlicher Perspektive betrachtet. Die Besonderheit liegt in der Kooperation unterschiedlicher Disziplinen wie Soziale Arbeit, Kunst und Webdesign

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes

© 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.[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.[Methods] We screened 1207 dystonia patients from Germany (DysTract consortium), Spain, and South Korea, and 1036 PD patients from Germany for pathogenic variants using a next-generation sequencing gene panel. The impact on DNA methylation of KMT2B variants was evaluated by analyzing the gene's characteristic episignature.[Results] We identified 171 carriers (109 with dystonia [9.0%]; 62 with PD [6.0%]) of 131 rare variants (minor allele frequency <0.005). A total of 52 patients (48 dystonia [4.0%]; four PD [0.4%, all with GCH1 variants]) carried 33 different (likely) pathogenic variants, of which 17 were not previously reported. Pathogenic biallelic variants in PRKRA were not found. Episignature analysis of 48 KMT2B variants revealed that only two of these should be considered (likely) pathogenic.[Conclusion] This study confirms pathogenic variants in GCH1, GNAL, KMT2B, SGCE, THAP1, and TOR1A as relevant causes in dystonia and expands the mutational spectrum. Of note, likely pathogenic variants only in GCH1 were also found among PD patients. For DYT-KMT2B, the recently described episignature served as a reliable readout to determine the functional effect of newly identified variants.This work was supported by the German Ministry of Education and Research (BMBF, DYSTRACT consortium, 01GM1514B, to A.A.K., T.B., C.Klein and K.L.) and the German Research Foundation (DFG, LO1555/10-1 to H.B., C.Klein, and K.L. and Project-ID 424778381-TRR 295 to A.A.K). The DysTract registry was further supported by the Arbeitskreis Botulinumtoxin der DGN e.V., Merz Therapeutics, AbbVie/Allergan, and Ipsen Pharma. The Korean DNA samples for this study were provided by the Seoul National University Hospital Human Biobank, a member of the National Biobank of Korea, which is supported by the Ministry of Health and Welfare. All samples derived from the National Biobank of Korea were obtained with informed consent under institutional review board-approved protocols. Several authors are members of the European Reference Network for Rare Neurological Diseases (Project ID No. 739510). Open Access funding enabled and organized by Projekt DEAL.Peer reviewe

The German Vehicle Mileage Survey 2014: Striking the balance between methodological innovation and continuity

Vehicle kilometers travelled (VKT) directly reflect the extent of spatial interaction within society and economy. VKT is also a key figure to quantify the use of road infrastructure. Consequently, VKT is one of the most important statistical indicators in traffic and transport. For a country with substantial cross-border transport relations such as Germany, VKT must be differentiated in national and domestic VKT: national VKT is the mileage of vehicles registered in Germany while domestic VKT is the mileage on German territory by German and foreign vehicles. This paper presents the most current German VKT survey, Fahrleistungserhebung (FLE) 2014, which comprised two elements: a motor vehicle owner survey to measure national VKT and traffic counts to measure domestic VKT. Vehicle mileage figures with deep stratification of both national and domestic VKT can only be generated through such special empirical studies. The focus of this paper is on the vehicle owner survey and national VKT

Complex dystonias: an update on diagnosis and care

Complex dystonias are defined as dystonias that are accompanied by neurologic or systemic manifestations beyond movement disorders. Many syndromes or diseases can present with complex dystonia, either as the cardinal sign or as part of a multi-systemic manifestation. Complex dystonia often gradually develops in the disease course, but can also be present from the outset. If available, the diagnostic workup, disease-specific treatment, and management of patients with complex dystonias require a multi-disciplinary approach. This article summarizes current knowledge on complex dystonias with a particular view of recent developments with respect to advances in diagnosis and management, including causative treatments