Elevated Blood Lead Concentrations in Essential Tremor: A Case–Control Study in Mersin, Turkey

Essential tremor (ET) is one of the most common neurologic disorders. Aside from underlying susceptibility genes, recent studies have also begun to focus on environmental toxic factors. Yet there remains a paucity of information on such factors, making studies of environmental factors important. A recent study in New York City found blood lead concentrations to be elevated in ET cases compared with matched controls. Chronic exposure to lead produces cerebellar damage, and this could predispose individuals to develop ET

The Caregiver Burden and Stroke Prognosis

This prospective study aimed to describe the caregiver burden and its effects on stroke prognosis and to correlate socio-demographic variables. Three centers from two cities in Turkey participated in this study. One hundred and ninety eight stroke patients and their primary caregivers were included in the study for a follow up period of 6 months. Stroke prognosis has been evaluated using Glasgow Coma Scale (GCS), National Institutes of Health Stroke Scale (NIH-SS) and Barthel Index (BI). Caregiver burden have been studied using Caregiver Stress Scale (CSS), Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI). Our study showed that good prognosis of stroke sufferers is directly correlated with a good BAI and BDI performances but there was no correlation with CSS. Stroke prognosis was commonly affected by the city of residence and gender of the patients. On the other hand, age of the caregiver; both with the city of residence and the type of the hospital in the same city have significant effect on CSS performance. Caregiver gender and the city factor have significant effect on both BAI and BDI performances according to mixed model analysis. These data showed that caregiver burden is an important factor on stroke prognosis and these factors are significantly affected by both individual and local factors in the same country

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis

© 2020 S. Karger AG, Basel.Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families. Methods: We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University. Results: All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3-60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients. Conclusion: This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration

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)

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

The Role of the Dopamine beta-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson's Disease in the Turkish Population

Objective: A functional single nucleotide polymorphism, rs1611115, in the dopamine beta-hydroxylase (DBH) gene, is reported to regulate plasma enzyme activity levels. Mere, we report the first evaluation of this association in patients with early-onset Parkinson's disease (EOPD) and healthy controls in the Turkish population

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

Introduction: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported