Estudio con tomografía por emisión de positrones de un caso de demencia vascular por hematoma talámico izquierdo, ejemplo del fenómeno de diasquisis / A study using positron emission tomography of a case of vascular dementia due to left thalamic haematoma, an example of the diaschisis phenomenon

Introducción. Las lesiones vasculares talámicas que se comportan como ictus estratégicos pueden causar amnesia, disfunciones ejecutivas o disfasia, así como síntomas comportamentales o psicológicos, y causar una demencia vascular. Caso clínico. Mujer de 58 años, hipertensa y dislipidémica, que, tras una hemorragia talámica izquierda que evolucionó radiológicamente de manera favorable, presentó un síndrome amnésico grave y otras alteraciones sutiles en la orientación y el lenguaje, dificultades en el manejo del dinero y síntomas depresivos que precisaron tratamiento ansiolítico y antidepresivo, todo lo cual fue causa de limitaciones para el normal desempeño de su trabajo. Seguida en la consulta de neurología, se le practicó una tomografía por emisión de positrones/tomografía axial computarizada con 18F-2-fluoro-2- desoxi-D-glucosa, donde se apreció un hipometabolismo en el tálamo izquierdo y, además, en la región frontal inferior ipsilateral, que se explicaría mediante el fenómeno de diasquisis. Conclusiones. El fenómeno de diasquisis es un hallazgo de neuroimagen y fisiopatológico por el cual los ictus talámicos o de los ganglios basales causan hipoperfusión/hipometabolismo en la corteza ipsilateral o contralateral, y que puede explicar síntomas a distancia corticales. El presente caso evidencia la presencia de conexiones talamocorticales, lo cual ayuda a comprender los circuitos de la memoria y a explicar la asociación en él de otros síntomas corticales, como la disfasia o las alteraciones ejecutivas (AU)

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 (AU)

Oestrogen receptor polymorphisms are an associated risk factor for mild cognitive impairment and Alzheimer disease in women APOE {varepsilon}4 carriers: a case-control study.

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.