In the present study, we have tested the hypothesis that brain-derived neurotrophic factor (BDNF) gene Val66Met polymorphism is associated with obsessive-compulsive disorder (OCD) and also investigated the association between the BDNF Val66Met polymorphism and the performance on tests measuring executive functions in a sample of patients with OCD. A total of 100 patients diagnosed with OCD according to DSM-IV criteria and 110 control subjects were included in this study. Single nucleotide polymorphism (G/A) leading to Val to Met substitution at codon 66 in BDNF was screened in the DNA samples of all participants. The genotype frequencies of BDNF Val66Met polymorphism were compared in OCD patients and healthy controls. The four subgroups of OCD and healthy control subjects, determined according to being Val homozygous or carrying a Met allele, were also compared according to their performance in a battery of neuropsychological tests of executive functions and verbal memory. There was no significant difference for the allele and genotype distributions of BDNF Val66Met polymorphism between the OCD and healthy control groups. Compared to the other three subgroups, OCD-Met carriers were slower on Trail-Making Test part A (TMT A), part B (TMT B) score and its speed-corrected score (TMT B-A). OCD-Met carriers had also poor performance on verbal fluency tasks and several CVLT measures compared only to the healthy control-Met carriers. These results demonstrate that the BDNF Val66Met polymorphism does not appear to be a risk factor for OCD. However, the presence of a BDNF Met allele, which is a known attenuator of BDNF activity, may be associated with a poorer executive functioning in OCD.
Our findings suggest that the high-expressing variant may be associated with lower performance on some abstraction and planning measures in OCD patients.
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:
Capgras syndrome (CS), also called imposter syndrome, is a rare psychiatric condition that is characterized by the delusion that a family relative or close friend has been replaced by an identical imposter. Here, we describe a 69-year-old man with CS who presented to the Kemal Arikan Psychiatry Clinic with an ongoing belief that his wife had been replaced by an identical imposter. MRI showed selective anterior left temporal lobe atrophy. Quantitative EEG showed bilateral frontal and temporal slowing. Neuropsychological profiling identified a broad range of deficits in the areas of naming, executive function, and long-term memory. On the basis of these findings, we diagnosed frontotemporal dementia. This case demonstrates that CS can clinically accompany frontotemporal dementia.
We aimed to assess the Addenbrooke's Cognitive Examination Revised (ACE-R) and three questions (3Qs, European Aids Clinical Society Guidelines) as potential screening tools for HIV-associated neurocognitive disorder (HAND). In addition, we tried to determine the prevalence and associated factors for HAND among people living with HIV (PLWH) in Turkey. Methods Persons living with HIV were enrolled from two teaching hospitals between March 2018 and September 2018. Participants underwent screening tools, a neuropsychological test battery (NTB) and an assessment of activities of daily living. HAND was diagnosed according to Frascati's criteria and applying the Global Deficit Score (GDS) approach. A receiver operating characteristic (ROC) curve analysis was performed to compare the predictive accuracy of ACE-R to that of the NP test battery. Factors associated with HAND were evaluated using multivariate logistic regression analysis. Results The study sample included 162 participants (94% male). The HAND prevalence was 45.7% [asymptomatic neurocognitive impairment (ANI), 37.7%; mild neurocognitive disorder (MND), 7.4%; HIV-associated dementia (HAD), 0.6%] according to the Frascati criteria and 31.5% (ANI, 25.9%; MND, 4.9%; HAD, 0.6%) using the GDS. In the ROC analysis, the ACE-R showed an area under the curve of 0.68 at a cutoff score of 89. The sensitivity, specificity and correct classification rate of screening tests for HAND diagnosis were as follows: ACE-R (62.2%, 67%, 64.8%) and 3Qs (10.8%, 88.6%, 53%). In multivariate analysis, only education level (adjusted odds ratio [aOR] = 0.84, 95% CI: 0.76-0.92, P ≤ 0.001) was an independent risk factor for HAND. Conclusions HAND is a common comorbidity in PLWH in Turkey. The sensitivities and specificities of 3Qs and the ACE-R as screening tools are lower than desired.
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