BACKGROUND: Parkinson's disease has been reported in a small number of patients with chromosome 22q11.2 deletion syndrome. In this study, we screened a series of large, independent Parkinson's disease case-control studies for deletions at 22q11.2.METHODS: We used data on deletions spanning the 22q11.2 locus from four independent case-control Parkinson's disease studies (UK Wellcome Trust Case Cont

The radioactive beam experiment (REX-ISOLDE) is now in the commissioning phase. REX-ISOLDE is a pilot experiment for testing a new concept of post acceleration at ISOLDE/CERN. The concept of REX-ISOLDE using a Penning trap-EBIS combination as a charge breeder and a compact LINAC for post acceleration requires detailed tests of all components in order to get a high efficiency. First measurements wi

Recent studies indicate that selective noradrenergic (atomoxetine) and serotonergic (citalopram) reuptake inhibitors may improve response inhibition in selected patients with Parkinson's disease, restoring behavioral performance and brain activity. We reassessed the behavioral efficacy of these drugs in a larger cohort and developed predictive models to identify patient responders. We used a doubl

BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterised by a triad of motor, psychiatric and cognitive deficits with the latter classically attributed to disruption of frontostriatal networks. However, emerging evidence from animal models of HD suggests that some of the early cognitive deficits may have a hippocampal basis. The objective of this stud

We evaluated the effect of anticholinergic burden on 219 participants with incident Parkinson's disease (PD) and 99 controls at study baseline and 18 months. Anticholinergic burden for each individual was calculated and summed according to the Anticholinergic Drug Scale (ADS). Medication with anticholinergic activity was more commonly prescribed in PD compared to controls, although mean ADS scores

BACKGROUND: There is a wealth of evidence detailing gray matter degeneration and loss of cognitive function over time in individuals with Huntington's disease (HD). Efforts to attenuate disease-related brain and cognitive changes have been unsuccessful to date. Multidisciplinary rehabilitation, comprising motor and cognitive intervention, has been shown to positively impact on functional capacity,

Finding new therapies for Parkinson's disease (PD) is a slow process. We assembled an international committee of experts to examine drugs potentially suitable for repurposing to modify PD progression. This committee evaluated multiple drugs currently used, or being developed, in other therapeutic areas, as well as considering several natural, non-pharmaceutical compounds. The committee prioritized

The aim of this study is to describe the environmental and climate changes that occurred in the mountains of Aubrac at the transition between the Lateglacial and the Holocene, from a comparative analysis of fossil Coleoptera and pollen, and a series of 23 14C dates. The changes affecting the ecological categories of Coleoptera lead to a division of the sequence into 5 beetle assemblage zones (BAZ)

Five cases are reported of children with gallstones diagnosed by ultrasound during their first 7 months of life. Of the four with symptomatic gallstones, one subsequently developed vitamin K deficiency syndrome with profuse bleedings. The children, who belonged to a defined population, were all diagnosed within an 18-month span, suggesting the frequency of early gallstone formation to be higher th

First text in bandwidth-efficient digital coded communication. Introduced the method of continuous phase modulation (CPM) coding, with full treatment of spectrum, minimum distance, trasnmitters and receivers.

Genotype assessment based on direct identification of the pathogenic mutation in a chorionic villi sample obtained in the 11-12th gestational week is the most reliable method for prenatal diagnosis and should be used if available. Genetic linkage studies of polymorphisms should be the second choice in the assessment of carriers and in prenatal diagnosis. Carriers of haemophilia should be offered a

Solid oxide electrochemical cells (SOCs) are considered a highly promising technology for providing efficient, sustainable and economic conversion between chemical energy and electrical energy. SOCs can be operated as fuel cells, where electric power is obtained from fossil or non-fossil hydrocarbon fuels depending on the origin or as electrolysis cells, whereby using electrical energy from renewa

BACKGROUND: Deficits in emotional processing can be detected in the pre-manifest stage of Huntington's disease and negative emotion recognition has been identified as a predictor of clinical diagnosis. The underlying neuropathological correlates of such deficits are typically established using correlative structural MRI studies. This approach does not take into consideration the impact of disrupti

The ability to successfully replace lost nigral dopaminergic neurons in Parkinson's disease (PD) has been clearly shown with fetal ventral mesencephalic transplants, albeit inconsistently. The need to trial this approach with stem-cell-derived neurons is approaching, but it should only commence when all the key issues have been adequately resolved.

BACKGROUND: The immune system is a promising therapeutic target for disease modification in Parkinson's disease (PD), but appropriate immune-related biomarkers must be identified to allow patient stratification for trials and tracking of therapeutic effects. The objective of this study was to investigate whether immune markers in peripheral blood are candidate prognostic biomarkers through determi

A fundamental problem in robotics is the generation of motion for a task. How to translate a task to a set of movements is a non-trivial problem. The complexity of the task, the capabilities of the robot, and the desired performance, affect all aspects of the trajectory; the sequence of movements, the path, and the course of motion as a function of time.This thesis is about trajectory generation a