ABSTRACT
Background: Tourette Syndrome (TS) is a neurodevelopmental disorder that presents with motor and vocal tics early in childhood. The aim of this study was to investigate genetic variants in the 3' untranslated region (3'UTR) of TS candidate genes with a putative link to microRNA (miRNA) mediated regulation or gene expression. Methods: We used an in silico approach to identify 32 variants in the 3'UTR of 18 candidate genes putatively changing the binding site for miRNAs. In a sample composed of TS cases and controls (n = 290), as well as TS family trios (n = 148), we performed transmission disequilibrium test (TDT) and meta-analysis. Results: We found positive association of rs3750486 in the LIM homeobox 6 (LHX6) gene (p = 0.021) and rs7795011 in the inner mitochondrial membrane peptidase subunit 2 (IMMP2L) gene (p = 0.029) with TS in our meta-analysis. The TDT showed an over-transmission of the A allele of rs1042201 in the arylacetamide deacetylase (AADAC) gene in TS patients (p = 0.029). Conclusion: This preliminary study provides further support for the involvement of LHX6, IMMP2L, and AADAC genes, as well as epigenetic mechanisms, such as altered miRNA mediated gene expression regulation in the etiology of TS.
ABSTRACT
AIM: To evaluate the usefulness of MMSE score in vascular dementia and the influence of different factors on the MMSE score. SUBJECT AND METHODS: We studied 78 stroke patients followed up at the neurology unit, Specialistic Polyclinic 2, Tirana. A neurological visit is done and the MMSE score is calculated for each of them. We noted the stroke form (ischemic, hemorrhagic), patient's age, education, time from stroke onset, accompanying neurological disorders (parkinsonism, epilepsy), risk factors (arterial hypertension, cardiac diseases, diabetes mellitus, smoking, carotid stenosis). The imaging (CT and/or MRI) of the brain is requested. Independent Samples Test, t-test for Equality of Means, 2 - tailed, is applied for the statistical evaluation. RESULTS: The mean age of the patients in the study is 70.31 years old. There are 37 females (47.43%) and 41 males (52.56%). 12 (15.38%) patients had hemorrhagic and 66 (84.61%) ischemic stroke. The mean time from stroke onset is 4.55 years. 15 (19.2%) patients have parkinsonism, 1 other extra pyramidal disorder, 3 (3.8%) secondary generalized epilepsy. The mean MMSE score for all patients is 23.48. The multi ischemic cerebral lesions were present in the imaging of 12 (15.38%) patients. The generalized cortical atrophy is found in 25 (32%) patients and the temporal atrophy in 14 (17.94%) patients. We analyzed the data of 37 patients [16 (43.24%) females and 21 (56.75%) males], with MMSE score < or = 23. The mean age is 75.39 years old. 6 (16.21%) patients are diagnosed with hemorrhagic stroke. 3 (8.1%) patients have secondary generalized epilepsy, 9 (24.32%) are suffering of parkinsonism and the mean time from stroke onset is 4.31 years. The imaging study revealed multi ischemic cerebral lesions in 9 (24.3%) patients. We found accompanying temporal atrophy in 10 (27%) patients, frontal atrophy in 2 (5.4%) patients, and generalized cortical atrophy in 17 (45.9%) patients. CONCLUSION: Dementia after stroke is frequent. The MMSE is still a useful scale to evaluate the VaD and is related to age, gender, education, stroke age, cardiovascular risk factors, stroke type and localization, other neurological disorders as epilepsy and parkinsonism.
