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Background: Many genes have been studied to determine how they might be involved in Alzheimer's disease (AD). Estrogens have a protective effect in the central nervous system. The mechanisms of action of estrogens are mediated by two estrogen receptors (ERs), ERα and ERβ. Thus, these genes could also play a role in the progression of amnesic mild cognitive impairment (MCIa) to AD. The aim of this study was to examine the role of ER single nucleotide polymorphisms (SNPs) as a risk factor for MCIa, as well as the interaction with apolipoprotein E (APOE) ε4 in the progression to AD. Methods: 79 MCIa patients and 138 healthy controls were analyzed. SNPs were genotyped via restriction fragment length polymorphisms and real-time PCR, RT-PCR or RT-PCR (TaqMan) assays. Results: There is a lack of association between MCIa patients who converted to AD and ER SNPs. APOE ε4 allele is an independent risk factor of MCIa (OR = 1.86; 95% CI = 1.02-3.38, p = 0.042) with a high prevalence in converted subjects. APOE ε4 is able to predict the progression from MCIa patients to AD (OR = 2.55; 95% CI = 1.20-5.42, p = 0.015). Conclusions: The presence of the APOE ε4 allele, and not the alleles of ER SNPs, is a risk factor for MCIa. Furthermore, APOE genotype seems to predict the conversion from MCIa to AD. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Introduction: Thalamic vascular lesions as strategic strokes can cause amnesia, executive dysfunctions or dysphasia and behavioral or psychological symptoms causing vascular dementia., Case Report: A 58 years-old woman with hypertension and dyslipemia, who after a left thalamic hemorrhage with good radiological evolution, presents a severe amnesic syndrome as well as other subtle changes in orientation and in language, difficulties in managing money and depressive symptoms requiring anxiolytic and antidepressive treatment. All this joined to limitations in the normal course of her work. Followed by neurology service, a positron emission tomography with 18F-2-fluoro-2-deoxy-D-glucose integrated with computed tomography was performed, which showed a hypometabolism in left thalamic area and also in ipsilateral inferior frontal region, explained by the diaschisis phenomenon., Conclusions: Diaschisis phenomenon is a neuroimaging and pathophysiological finding whereby thalamic or basal ganglia strokes cause hypoperfusion/hypometabolism in the ipsilateral or contralateral cortex and could explain cortical distal symptoms. This case report demonstrates the presence of thalamocortical connections, which helps to understand the circuitry of memory and help to explain the association of other cortical symptoms as dysphasia or executive dysfunction.

Objectives: Examine the role of single nucleotide polymorphisms (SNPs) in the oestrogen receptor (ER) genes: rs9340799, rs2234693, rs2228480 (in the ESR1 gene) and rs4986938 (in the ESR2 gene) as a risk factor for amnesic mild cognitive impairment (MCIa) and Alzheimer's disease (AD) and its possible association with the apolipoprotein E (APOE) gene., Design: We have investigated the independent and combined association of different alleles of the oestrogen receptor genes and APOE*ε4 allele with cognitive impairment using a case-control design., Setting: Participants were prospectively recruited from the neurology departments of several Basque Country hospitals., Participants: This study comprised 816 Caucasian participants who were aged 50 years and older: 204 MCIa, 350 sporadic patients with AD and 262 healthy controls., Primary and Secondary Outcome Measures: Clinical criteria and neuropsychological tests were used to establish the diagnostic groups (MCIa, AD and healthy controls). A dichotomous variable was used for each allele and genotype and the association with MCIa and AD was established using Logistic Regression Models., Results: Neither alleles nor genotypes of SNPs rs9340799, rs2234693, rs2228480 and rs4986938 of oestrogen receptor genes (ESR1 and ESR2) are independently associated with the risk of MCIa or AD. However, the genetic profile created with the combination of the less represented alleles of these SNPs (expressed as XPAA) was associated with an increased risk for MCIa (OR=3.30, 95% CI 1.28 to 8.54, p=0.014) and AD (OR=5.16, 95% CI 2.19 to 12.14, p<0.001) in women APOE*ε4 allele carriers., Conclusions: The less represented alleles of SNPs studied are associated with MCIa and AD in APOE*E4 carriers. In particular, the genetic profile created with the less represented alleles of ESR1 and ESR2 SNPs are associated with an increased risk for MCIa and AD in women APOEε4 allele carriers.