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Progress in Huntington's disease : the search for markers of disease onset and progression

Unlike most neurodegenerative disorders, individuals at risk from Huntington's disease can be identified prior to the onset of clinical signs of the disease by virtue of it being an autosomal dominant condition. This provides the hypothetical opportunity to delay disease onset and/or slow down the progression of the disease in the very early stages ahead of overt features of disease. To help prepa

Which patients with Parkinson's disease participate in clinical trials? : One centre's experiences with a new cell based therapy trial (TRANSEURO)

BACKGROUND: There is currently little evidence regarding the selection of patients for clinical trials in Parkinson's Disease (PD), especially those involving experimental therapies delivered using invasive techniques.OBJECTIVE: Understanding which patients are recruited will increase awareness of issues regarding parity of access to clinical trials and have an impact on the wider applicability of

Deletions at 22q11.2 in idiopathic Parkinson's disease : a combined analysis of genome-wide association data

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

Commissioning of the REX-ISOLDE LINAC

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

Predicting beneficial effects of atomoxetine and citalopram on response inhibition in Parkinson's disease with clinical and neuroimaging measures

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

Hippocampal dysfunction defines disease onset in Huntington's disease

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

Anticholinergic Load : Is there a Cognitive Cost in Early Parkinson's Disease?

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

The effect of multidisciplinary rehabilitation on brain structure and cognition in Huntington's disease : an exploratory study

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,

Linked clinical trials - the development of new clinical learning studies in Parkinson's disease using screening of multiple prospective new treatments

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

Novel insights from coleopteran and pollen evidence into the Lateglacial/Holocene transition in Aubrac, French Massif Central

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)

Cholelithiasis during the first year of life : Case reports and literature review

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

Digital Phase Modulation

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.

Prenatal diagnosis of haemophilia

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

Three Dimensional Multiphysics Modeling of Reversible Solid Oxide Electrochemical Cells for Degradation Studies

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

The role of the amygdala during emotional processing in Huntington's disease : from pre-manifest to late stage disease

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

Developing stem cell therapies for Parkinson's disease : waiting until the time is right

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.

Serum immune markers and disease progression in an incident Parkinson's disease cohort (ICICLE-PD)

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