Fieldsjorgensen6708

Background Parkinson's disease (PD) negatively affects patients' Quality of Life (QoL) which depends on both objective criteria such as physical health and subjective ones such as worries and norms according to personal believes. Therefore, QoL could be also associated to personality dimensions in chronic neurological diseases such as PD. Objective Our objective was thus to study the potential association between personality dimensions and QoL in PD patients with motor fluctuations before Deep Brain Stimulation of the Sub-Thalamic Nucleus (DBS-STN). Methods Data were obtained from the French multicentric cohort study Predi-Stim. All PD patients awaiting DBS-STN and responding to the inclusion criteria at the time of the study were included. All participants answered the "Temperament and Character Inventory" (TCI) and the PDQ-39 before surgery. Analyses were made using adjusted univariate generalized linear regression models to evaluate a potential association between TCI dimensions and PDQ-39 scores. Results Three hundred thirty-three consecutive patients were included. The temperament Harm Avoidance was negatively associated with QoL (p = 1e-4, R2= 0.33), whereas the character Self-Directedness was positively associated with mental component of QoL (p = 2e-4, R2= 0.33) in PD patients with motor fluctuations awaiting DBS-STN. Conclusions PD patients with motor fluctuations, with lower Harm Avoidance and higher Self-Directedness scores have the best QoL mainly at an emotional and social level. Therapeutic education of these PD patients focusing on their personal resources may thus be important to improve their well-being.Background In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. Objective In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype. Methods Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families. Results Clinical phenotype of the patients confirms the originally reported phenotype of a childhood-onset progressive cerebellar and pyramidal syndrome with optic atrophy and learning difficulties. Brain MRI showed periventricular white matter lesions with multiple cystic defects, suggesting leukoencephalopathy in both patients. One patient carried the previously described homozygous TACO1 variant (p.His158ProfsTer8) and haplotype analysis suggested that this variant is a rare founder mutation. The second patient from another family carried a homozygous novel frame shift variant (p.Cys85PhefsTer15). Conclusions The identification of two Turkish families with similar characteristic clinical presentation and an additional homozygous nonsense mutation confirms that TACO1 is a human mitochondrial disease gene. Although most patients with this clinical presentation undergo next generation sequencing analysis, screening for selected founder mutations in the Turkish population based on the precise clinical presentation may reduce time and cost of finding the genetic diagnosis even in the era of massively parallel sequencing.Background The role of the complement cascade in acetylcholine receptor antibody-negative (AChR-) myasthenia gravis (MG) is unclear. Objective To assess the efficacy and tolerability of eculizumab (terminal complement inhibitor) in patients with AChR-MG. Methods Retrospective chart review of data from six patients treated for 12 months with eculizumab for treatment-refractory, AChR-(by radioimmunoassay) generalized MG (gMG). The eculizumab dose was 900 mg/week for 4 weeks then 1200 mg every 2 weeks. Outcome measures were Myasthenia Gravis-Activities of Daily Living (MG-ADL) scores, number of exacerbations, and qualitative physical assessments based on selected items of the Quantitative Myasthenia Gravis evaluation (ptosis, double vision, eye closure, duration of ability to stretch out limbs). Results All patients were female (mean age, 50.8 years). In the 12 months before eculizumab initiation, all measures were relatively stable. After its initiation, clinically meaningful reductions (≥2 points) in total MG-ADL scores were observed before or at 5 months and were maintained to Month 12 in all patients; mean (standard deviation [SD]) scores were 11.3 (0.9) and 5.0 (0.9), respectively. There was also a reduction in the mean (SD) number of exacerbations per patient, from 2.8 (1.2) to 0.3 (0.5) in the 12 months before and after eculizumab initiation, respectively. Physical assessment ratings were improved in all patients. Adverse events were reported in four patients, but all were mild and none were treatment-related. Conclusions This small retrospective analysis provides preliminary evidence for the efficacy of eculizumab in treatment-refractory gMG that was AChR-according to radioimmunoassay. Larger, more robust studies are warranted to evaluate this further.Background Poor sleep is common among older adults with mild cognitive impairment (MCI) and may contribute to further cognitive decline. Whether multimodal lifestyle intervention that combines bright light therapy (BLT), physical activity (PA), and good sleep hygiene can improve sleep in older adults with MCI and poor sleep is unknown. Objective To assess the effect of a multimodal lifestyle intervention on sleep in older adults with probable MCI and poor sleep. Methods This was a 24-week proof-of-concept randomized trial of 96 community-dwelling older adults aged 65-85 years with probable MCI (5 on the Pittsburgh Sleep Quality Index [PSQI]). Participants were allocated to either a multimodal lifestyle intervention (INT); or 2) education + attentional control (CON). INT participants received four once-weekly general sleep hygiene education classes, followed by 20-weeks of 1) individually-timed BLT; and 2) individually-tailored PA promotion. Our primary outcome was sleep efficiency measured using the MotionWatch8© (MW8). Secondary outcomes were MW8-measured sleep duration, fragmentation index, wake-after-sleep-onset, latency, and PSQI-measured subjective sleep quality. Results There were no significant between-group differences in MW8 measured sleep efficiency at 24-weeks (estimated mean difference [INT -CON] 1.18%; 95% CI [-0.99, 3.34]), or any other objective-estimate of sleep. ONO-AE3-208 cell line However, INT participants reported significantly better subjective sleep quality at 24-weeks (estimated mean difference -1.39; 95% CI [-2.72, -0.06]) compared to CON. Conclusion Among individuals with probable MCI and poor sleep, a multimodal lifestyle intervention improves subjective sleep quality, but not objectively estimated sleep.