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Introduction: Parkinson disease is a chronic neurological disease, associated with significant morbidity. First, we assess quality of life (QOL) in a group of patients with Parkinson Disease (PD). Secondly, we evaluate the influence of mental resilience and the relation between QOL and resilience in this same group. Methods: Participants: Patients are recruited at the neurological department of a general hospital in Belgium. We invite 16 patients, from which 12 accept to participate. Measures: We develop a brief questionnaire to obtain basic demographical and medical information from the participants. We collect data by a semi-structured interview and by 2 questionnaires. To evaluate the quality of life, we use the RAND-36 questionnaire. The RS-NL is used to measure the mental resilience. Data-analysis: We make a qualitative analysis of the obtained data and focus on the relation between QOL and mental resilience in PD. Results: Patients report low to moderate quality of life with moderate to severe feelings of burden, going along with maladaptive coping strategies and resulting in a low degree of resilience. In this small and explorative study, the relation between QOL and mental resilience seems an interesting approach for future research. Conclusion: The relation between QOL and mental resilience in Parkinson, needs to be studied in a larger population. In the clinical management of patients with Parkinson, it becomes an interesting perspective to stress on resilience-augmenting strategies.

BACKGROUND: Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. METHODS: LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. FINDINGS: 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.48, 1.33-15.09; p=0.012). INTERPRETATION: The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed. These results will help discriminate those patients who will benefit most from therapies targeted at LRRK2 pathogenic activity. FUNDING: Michael J Fox Foundation and National Institutes of Health. Lancet Neurol

OBJECTIVE: A 'case scenario' study on clinical decisions in progressing Parkinson's disease (PD) was developed to complement scientific evidence with the collective judgment of a panel of experts. METHODS: The opinions of 9 experts in movement disorders on the appropriateness of 9 common pharmacological treatments for 33 hypothetical patient profiles were compared to those of 14 general neurologists. Before rating the case scenarios, all participants received a document integrating European and US guidelines for the treatment of patients with advanced PD. Case scenarios showing disagreement or with inconsistencies in appropriateness ratings were discussed at a feedback meeting. A tool for interactive discussion on the clinical case scenarios included was developed based on the outcome of the study. RESULTS: Current guidelines are often insufficient to adequately guide the management of patients with progressing PD. The case scenario study did not reveal major differences in opinions between experts in movement disorders and general neurologists about the appropriateness of certain drug choices for specific case scenarios. However in about 1 out of 5 treatment decisions where experts stated appropriateness or inappropriateness, the general neurologists panel had no or dispersed opinions. CONCLUSIONS: This study reveals more uncertainty about treatment of advanced PD in general neurologists compared with experts in movement disorders and underlines the need for additional support for guiding treatment decisions in clinical practice.

Background Associations between low levels of folate and vitamin B-12 and cognitive impairment inpatients with dementia have been reported. Some studies revealed correlations between low levels of vitamin B-12 and behavioural and psychological signs and symptoms of dementia (BPSD) in Alzheimer's disease (AD) patients. Given the lack of studies in frontotemporal dementia (FrD) and on folate and given the methodological shortcomings of former publications, we set up a prospective study. Methods At inclusion, AD (n = 152) and FTD (n = 28) patients underwent a neuropsychological examination. Behaviour was assessed using a battery of behavioural assessment scales. Determination of serum vitamin B-12 and red cell folate levels were performed within a time frame of two weeks of inclusion. Results In both patient groups, significantly negative correlations between levels of serum vitamin B-12 and red cell folate and the degree of cognitive deterioration were found. No correlations with BPSD were found in the AD patient group. In FTD patients, levels of vitamin B-12 were negatively correlated with both hallucinations (p = 0.022) and diurnal rhythm disturbances (p = 0.036). Conclusions The observed negative correlations between levels of vitamin B-12 and folate and cognitive impairment in both AD and FrD patients, raise the possibility of a non-specific etiological role. Although levels of vitamin B-12 and folate did not correlate with BPSD in AD patients, negative correlations between serum vitamin B-12 levels and BPSD in FrD patients were revealed. Decreased serum vitamin B-12 levels may predispose FTD patients to develop hallucinations and diurnal rhythm disturbances. Copyright (C) 2004 John Wiley Sons, Ltd.

The present study evaluates dose-dependent behavioral effects of acutely or subacutely administered single doses of vigabatrin (gamma-vinyl gamma-aminobutyric acid, gamma-vinyl GABA, CAS 60643-869) in audiogenic sensitive rats, in correlation with whole brain GABA metabolism. There was a discrepancy in timing between behaviorally observed maximal antiepileptic protection (4 h after i.p. administration of gamma-vinyl GABA) and on the other hand maximal inhibition of GABA-transaminase activity and maximal increase of whole brain GABA content (24 h after i.p, administration of gamma-vinyl GABA). This suggests that the antiepileptic properties of gamma-vinyl GABA not only depend on GABA-ergic neurotransmission. A possible explanation is a gamma-vinyl GABA-induced decrease of excitatory amino acids or increased glycine concentrations in the brain.