Adult Spinal Primary Leptomeningeal Medulloblastoma Presenting as Pseudotumour Cerebri Syndrome.

A previously well 34-year-old man presented with severe pseudotumour cerebri. Imaging showed that he had a cauda equina tumour which proved to be a medulloblastoma. There was no tumour mass in the posterior fossa so we assume that this was a primary leptomeningeal medulloblastoma. In patients with somewhat atypical pseudotumour, spinal imaging should always be considered.

Contribution of functional dopamine D2 and D3 receptor variants to motor and non-motor symptoms of early onset Parkinson's disease.

In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.031; odds ratio (OR)=4.25], DRD2 [rs2283265; risk allele "A" for pain; p = 0.001; OR=8.47] and, DRD2 [rs1076560; risk allele "A" for pain; p = 0.022; OR=4.58]. Additionally, bilateral disease [p = 0.011; OR=5.10] and gender [risk group "female"; p = 0.003; OR=8.53] were also identified as significant univariate risk factors for PD-related pain. Based on logistic regression analysis conducted with the significant univariate risk factors, this the first report to clarify that a female patient with bilateral PD and DRD2 rs2283265 polymorphism has a significant risk for PD-related pain. Our findings might contribute to improve life quality by offering treatment options for pain in PD patients with these clinical and genetic features.

Epigenetic approach to early-onset Parkinson's disease: low methylation status of SNCA and PARK2 promoter regions.

Background and aim The effect of epigenetic modifications in the genes related to Parkinson's disease (PD) is still unclear. In the present study, we investigated methylation status of SNCA and PARK2 genes in patients with early-onset Parkinson's disease (EOPD). Materials and methods The promoter region methylation status of SNCA and PARK2 genes was evaluated by methylation specific-PCR (MSP) in 91 patients with EOPD and 52 healthy individuals. Results The methylation of SNCA and PARK2 promoter regions were significantly lower in EOPD patients compared to the control group (P = 0.013 and P = 0.03, respectively). We also found that the methylation status of the SNCA might be associated with positive family history of PD (P = 0.042). Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis.

Demonstration of Early Cognitive Impairment in Parkinson's Disease with Visual P300 Responses.

INTRODUCTION: Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's disease. Cognitive changes in PD are less observable than motor symptoms; thus, research on cognitive processes, which are known to be impaired from the early stages of PD, is minimal. The purpose of this study is to research the brain dynamics of cognitively normal PD patients and healthy elderly controls using event-related potentials (ERPs) and to evaluate their relationships with neuropsychological tests. METHODS: Eighteen cognitively normal PD patients and 18 age-, gender-, and education-matched healthy controls were included in the study. Detailed neuropsychological tests were applied to all participants. Electroencephalography (EEG) was performed according to the international 10-20 system, and a classical visual oddball paradigm was used in the experiments. ERP responses in the 0.5 to 25 Hz frequency range were examined. P300 amplitude and latency values were measured from the F3, Fz, F4, C3, Cz, C4, P3, Pz, P4, O1, Oz, and O2 electrode sites. In addition, the correlations between P300 responses and neuropsychological test scores were analyzed. RESULTS: Significant differences were found between the P300 amplitudes of cognitively normal PD patients and healthy elderly controls [F(1,31)=9.265; p=0.005]. P300 amplitudes were significantly lower for PD patients at the F3, FZ, Cz, C4, Pz, and P4 electrode sites than for healthy elderly controls. Moderate correlations were found between Stroop test score and P4 amplitude, digit span forward and C3 and Pz amplitude, and digit span backward and O1 amplitude. CONCLUSION: The major finding of this study was the detection of cognitive changes by electrophysiological methods in PD patients who were indicated to be cognitively normal by neuropsychological tests. These finding suggests that cognitive changes in PD patients, which are not yet reflected in neuropsychological tests, may be detected by electrophysiological methods in earlier stages.

The effect of supervised exercises on static and dynamic balance in Parkinson's disease patients.

BACKGROUND/AIM: The aim of the this study was to examine the effects of supervised exercises on measures of static and dynamic balance Parkinson's disease (PD) patients. MATERIAL AND METHODS: The study used a before-after study design. Seventeen PD patients with mild and moderate levels of disability were enrolled in the study. Patients followed an exercise program under a physiotherapist's supervision one day a week for 12 weeks. The standard Balance Master protocol was used before and after exercise to assess static and dynamic balance. RESULTS: A statistically significant difference was observed in the unilateral balance test, one of the static balance assessments performed while standing on the left or right leg with eyes closed (p < 0.05). With respect to dynamic balance, a statistically significant difference in the maximum excursion of limits of stability (LOS), one of the balance tests used in the supervised exercise programs for patient with Parkinson's disease, between measurements taken before and after exercises was also detected (p < 0.05). CONCLUSIONS: The change of LOS revealed that dynamic balance improved due to the exercises. Thus, our supervised exercise program provided improvement in dynamic balance of PD patients.

Is it always necessary to apply botulinum toxin into the lower facial muscles in hemifacial spasm?: a randomized, single-blind, crossover trial.

BACKGROUND: Botulinum toxin (BTX) injections are accepted as safe and efficacious in the treatment of hemifacial spasm (HFS), but it is still debated whether BTX treatment of lower facial muscles should be performed or not. OBJECTIVE: The study aims to evaluate the necessity of BTX administration into lower facial muscles in patients with HFS. METHODS: A randomized, single-blind, crossover, clinical trial was conducted. Twenty-three HFS patients were randomly allocated to two different application methods. The patients were administered BTX type A into both the orbicularis oculi and perioral muscles in the first method and BTX type A into the orbicularis oculi but placebo into the perioral muscles in the second method. Subjects were crossed over to the alternate method when they needed BTX injection with a minimum of 3 months' duration. All the patients underwent both methods with no change in the total dose of BTX. RESULTS: All the patients benefited from BTX treatment regardless of the methods. However, in the patients with severe lower facial muscle involvement, the application of BTX into both orbicularis oculi and lower facial muscles led to better results. CONCLUSION: Our data suggest that BTX application to lower facial muscles might not be necessary in patients with mild lower facial involvement.