Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association (GWA) study, meta-analysis and follow-up (totaling as many as 18,206 cases and 42,536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7,469 bipolar disorder cases, 1,535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46,160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T], OR = 1.08, P = 6.6 × 10−11). The new variant is located within a 593 kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P = 0.0039 in the public GIANT consortium dataset; P = 0.00047 in 22,651 additional Icelanders).
Objective: The goal of this study was to estimate the prevalence of mild cognitive impairment (MCI) in Georgia. Method: A population-based study was conducted using Georgian version of the Montreal Cognitive Assessment (MoCA) and its cognitive domain index score. Results: Of the initial cohort of 1,000 subjects, 851 met inclusion criteria. The prevalence of MCI was 13.3%, and it was associated with age >65 years (odds ratio [OR] = 4.51, 95% confidence interval [CI] = [3.00, 6.75]), urban residence (OR = 0.53, 95% CI = [0.33, 0.88]), lower education (OR = 3.99, 95% CI = [2.66, 5.93]), and hypertension (OR = 2.51, 95% CI = [1.68, 3.76]), while amnestic MCI was documented in 9.3%, with higher risk in older subjects (OR = 2.69, 95% CI = [1.66, 4.20]), and diabetics (OR = 2.69, 95% CI = [1.25, 5.98]). Conclusion: In this first population-based study of MCI in Georgia, prevalence was comparable with those reported from the United States and Europe. Observed association of MCI with cardiovascular risk factors has important clinical implication for dementia prevention in Georgia.
Montreal Cognitive Assessment (MoCA) test has been shown to be a reliable tool to detect mild cognitive impairment (MCI), however, no Georgian language version exists. The goal of this study is to determine the validity, reliability, and accuracy of Georgian version of MoCA in the evaluation of amnestic MCI (aMCI) and Alzheimer's disease (AD). Montreal Cognitive Assessment was translated into Georgian language and was administered to healthy participants (HP) and patients with aMCI and AD. We studied 46 HS, 20 patients with aMCI, and 20 patients with AD. There was significant difference in MoCA scores between HP, patients with aMCI, and patients with AD ( P = 0.04). The area under the receiver operating characteristic curve for the aMCI and AD groups by MoCA was 0.88 and 0.95, respectively, compared to 0.43 and 0.67 by Mini-Mental State Examination (MMSE). The Georgian version of MoCA is a valid, reliable, and sensitive screening tool to detect aMCI and AD in Georgian-speaking population and is superior to MMSE.
Patients with ephedrone parkinsonism (EP) show a complex, rapidly progressive, irreversible, and levodopa non-responsive parkinsonian and dystonic syndrome due to manganese intoxication. Eye movements may help to differentiate parkinsonian syndromes providing insights into which brain networks are affected in the underlying disease, but they have never been systematically studied in EP. Horizontal and vertical eye movements were recorded in 28 EP and compared to 21 Parkinson's disease (PD) patients, and 27 age- and gender-matched healthy subjects using standardized oculomotor tasks with infrared videooculography. EP patients showed slow and hypometric horizontal saccades, an increased occurrence of square wave jerks, long latencies of vertical antisaccades, a high error rate in the horizontal antisaccade task, and made more errors than controls when pro- and antisaccades were mixed. Based on oculomotor performance, a direct differentiation between EP and PD was possible only by the velocity of horizontal saccades. All remaining metrics were similar between both patient groups. EP patients present extensive oculomotor disturbances probably due to manganese-induced damage to the basal ganglia, reflecting their role in oculomotor system.
Background: Cognitive impairment is one of the common features of multiple sclerosis (MS). Despite high prevalence, cognitive decline is often overlooked by neurologists. The Brief International Cognitive Assessment for MS (BICAMS) was therefore introduced by the international expert committee as a brief and effective tool for the assessment and monitoring of cognitive functions in patients with MS. The validity and reliability of BICAMS have been demonstrated in many countries. Our aim was to validate the BICAMS in Georgian patients with MS.Methods: A total of 68 patients with MS and 68 matched controls were assessed by the Georgian-language BICAMS. All healthy controls and seven patients were re-evaluated with identical tests to assess retest reliability. Results: In comparison to healthy controls, patients with MS performed significantly worse on all tests in the assessment battery. Test-retest reliability measures were good for all tests. The prevalence of cognitive impairment in patients with MS was 43%. Conclusion: The Georgian-language BICAMS is a reliable and valid battery for the assessment of cognitive function in patients with MS.
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