Cognitive changes in patient living with HIV-AIDS and apolipoprotein-E polymorphism: is there an association?

Patients with HIV-AIDS treated with antiretroviral drugs still have high prevalence of cognitive disorders and many factors are likely to contribute for ongoing neurologic decline such as chronic low-level infection, coinfections with hepatitis B and C and genetic influences, both the virus and the host. Some evidences suggest that the genetic APOE polymorphism may be an associated risk factor. This study aimed to evaluate the association between APOE polymorphisms and cognitive disorders in patients with HIV-AIDS. This was a cross-sectional study comprising 133 patients aged 19-59 years old, with HIV-AIDS and were assisted at the infectious disease outpatient clinics at Hospital Universitário Oswaldo Cruz, in Recife, Brazil. For cognitive evaluation, Mini-Mental State Examination test (MMSE) and Montreal Cognitive Assessment test (MoCA) were used. The determination of APOE gene polymorphism was performed by using the PCR-RFLP technique. Sociodemographic and clinical characteristics were not significantly associated to APOE ε4 polymorphism, except for the high results of CD4 rate (p < 0.015). There was an absence associated between APOE ε4 polymorphism and neurocognitive tests. This study found no association between cognitive alterations and APOE polymorphism in patients with HIV-AIDS in the Northeast of Brazil. The imbalance of APOE allelic frequency distribution, according to Hardy-Weinberg law, there could be an adjustment phase of its equilibrium suffered by the HIV virus, however, the mechanism is still unknown.

No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients.

In a genome survey for Alzheimer's disease (AD), Zubenko et al. (1998) reported that the 234bp allele of the D10S1423 locus was more frequent among AD cases than in controls. We have analyzed this polymorphic locus in patients and healthy controls and observed that the 226bp allele is the most frequent allele in the D10S1423 locus in Brazilian AD patients. However, no statistically significant association between any D10S1423 allele was observed in AD patients as well as in controls.

Classic Pick's disease type with ubiquitin-positive and tau-negative inclusions: case report.

We report on a patient presenting Pick's disease similar to the one reported by Pick in 1892, with ubiquitin-positive and tau-negative inclusions. His diagnosis was made on the basis of clinical (language disturbance and behavioural disorders), neuropsychological (progressive aphasia of the expression type and late mutism), neuroimaging with magnetic resonance (bilateral frontal and temporal lobes atrophy) and brain single photon emission computed tomography (frontal and temporal lobes hypoperfusion) studies. Macroscopic examination showed atrophy on the frontal and temporal lobes. The left hippocampus displayed a major circumscribed atrophy. The diagnostic confirmation was made by the neuropathological findings of the autopsy that showed neuronal loss with gliosis of the adjacent white matter and apearance of status spongiosus in the middle frontal and especially in the upper temporal lobes. There were also neuronal swelling (ballooned cell) and argyrophilic inclusions (Pick's bodies) in the left and right hippocampi. Anti-ubiquitin reaction tested positive and anti-tau tested negative.

Analysis of the disease risk locus DXS1047 polymorphism in Brazilian Alzheimer patients.

Alzheimer's disease (AD) is a disorder characterized by a progressive deterioration in memory and other cognitive functions. Four genes associated with early onset AD have been identified but familial AD is rare. The majority of late onset AD (LOAD) is caused by a complex inheritance with several genes interacting with environmental factors. The epsilon4 allele of the apolipoprotein E (APOE) gene has been reported worldwide as a risk factor associated with LOAD. The short variant of a polymorphism in the transcriptional region of the serotonin transporter gene (5-HTTLPR) was analyzed in several psychiatric conditions and found to be more frequently associated with European and Brazilian LOAD patients. Recently, allelic associations with LOAD were reported for five other loci, the most significant for one X-linked 202-bp allele, at the DXS1047 locus. We have analyzed this locus in Brazilian LOAD patients and observed that the 202-bp allele was not significantly more frequent among patients. In contrast, two other alleles (200 bp and 208 bp) were less frequent among AD male patients than in controls, confirming the importance of replicating association studies in different populations.

Amyotrophic lateral sclerosis with dementia. Case report.

A patient is described in whom a profound and rapidly progressive dementia occurred in association with clinical features of amyotrophic lateral sclerosis. A magnetic resonance imaging showed signs of frontal and especially left temporal atrophy. The pattern of dementia indicated impaired frontotemporal lobe functions, evidenced by reduced tracer uptake in the frontotemporal lobes on brain single photon emission computed tomography. Neuropathological examination in this patient revealed mild frontotemporal atrophy with spongiform changes and neuronal loss affecting mainly layers II and III of the frontotemporal cortices. There was atrophy of the hypoglossal nuclei. The spinal cord changes were consistent with motor neuron disease. The patient showed an irreversible and progressive course. A review of the relevant literature was made.

The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's disease.

We analyzed a deletion/insertion polymorphism within the promoter region of the serotonin transporter gene (5-HTTPLR) in 81 patients with late onset Alzheimer's (AD) disease (mean age 70.02 +/- 8.13 years). Control groups included 81 normal subjects with comparable age (mean age 75.6 +/- 10.2) and 82 younger normal subjects (mean age 37.4 +/- 9.1). Statistical analysis showed a significant difference in the genotype and gene frequencies between the AD group and normal controls (chi 2 = 9.021; 2 d.f. and chi 2 = 5.59, 1 d.f., respectively, P < 0.05) due to the higher frequency of the L allele and the lower frequency of the s allele in controls than among AD patients. However, no differences were found in the genotype frequencies in older as compared to younger normal control groups (chi 2 = 0.337, 2 d.f. and P > 0.05). The present study confirms, in a different population, that the short variant of the 5-HTTPLR polymorphism may be a risk factor for late onset AD.

[Binswanger's disease: clinicopathological study of a case]. / Doença de Binswanger. Estudo anátomo-clínico de um caso.

The authors describe a case of Binswanger's disease in a female patient with arterial hypertension followed during 10 years, before and after the demential syndrome. The clinical diagnosis was established through history, clinical and neurological examination, and neuropsychologic evaluation. Computed tomography and particularly magnetic resonance imaging suggested the diagnosis, that was confirmed by the anatomo-pathological study. They discuss behavioral and clinical data, and radiological and histopathologic aspects, comparing them with data found in the literature.

[Cognitive heterogeneity in Alzheimer's disease]. / Heterogeneidade cognitiva na doença de Alzheimer.

The authors describe and discuss neuropsychological aspects related to the functional organization of the brain connected to cognition in 81 Alzheimer's disease patients in the Laboratoire Théophile-Alajouanine du Centre de Recherche du Centre hospitalier Côte-des-Neiges in the University of Montreal. They confront the clinical of homogeneity against the heterogeneity within functional organization of the brain. The criteria used for diagnosis were those of the NINCDS-ADRDA. All of the patients were in the beginning of the evolution, in stages 3 and 4 of Reiberg (Functional Assessment Staging, FAST). The conclusion shows that there are two cognitive profiles: a non-recurrent profile, made up by the majority of the patients, and the heterogeneity depends on the genetic background of each individual; a recurrent profile, made up by a small group of patients that show changes in the heterogeneity of clinical, nosological, pathological and normal aging forms.

[Adequate neuropsychological evaluation of dementia]. / Avaliação neuropsicológica adequada às demências.

The authors discuss the protocol of the Optimal Neuropsychological Evaluation of Dementias of Montreal and its possible application in Brazil. This protocol is important for evaluation in neuropsychological evolution of dementia of the Alzheimer type and for bringing to the fore distinct affected cognitive profiles as much on a transversal base as longitudinal. The authors believe that its application would contribute to the progress of research in neurology, as in the clear distinction between normal aging and pathological aging.

[Back lumbar herniated discs and cauda equina syndrome as complications of Scheuermann's disease. A case report]. / Hérnias discais dorso-lombares e síndrome da cauda equina como complicações da doença de Scheuermann. Relato de caso.

The author reports the case of a patient with spinal cord compression by a thoracic herniated disc without paraplegia as well as a cauda equina syndrome due to spondylotic and discal lesions, with small protrusions of the L4-L5 and L5-S1 discs associated with Scheuermann disease. There was complete recovery in six months with clinical treatment. The radiological evaluation using standard radiography, myelography, computed tomography, magnetic resonance imaging of the vertebral column, and electromyographic evaluation indicate a precise correlation between clinical picture and the distribution and course of lumbar spinal cord degenerations. Furthermore, a strong correlation was also found with hernias, roots and the bony sequalae of spinal cord dystrophy found in Scheuermann disease.

[Adrenoleukodystrophy: clinical and histopathological study of a case associated to the use of abortifacient agents in the second month of pregnancy]. / Adrenoleucodistrofia. Estudo clínico e histopatológico de um caso associado ao uso de abortivos no segundo mês de gestação.

The authors report a case of adrenoleukodystrophy in a 8 years old male patient whose mother has taken several abortive drugs during the first three months of pregnancy. The disease was progressive starting with auditory, visual and mental disturbances, followed by neurovegetatives and motor changes with convulsion and fetal position. At the final stage the patient became blind, deaf, quadriplegic and dementiated. Death resulted from lung infection. The diagnosis was confirmed by the CSF, electrophysiological, radiological and necropsy findings. Necropsy changes in the brain and adrenal cortex are detailed.