Publicación Oficial de la Sociedad Ecuatoriana de Neurología, de la Liga Ecuatoriana Contra la Epilepsia y de la Sociedad Iberoamericana de Enfermedad Cerebrovascular

cerebrospinal fluid

 

Diagnóstico de la Enfermedad de Alzheimer de Inicio Temprano Mediante el Uso de Biomarcadores en Líquido Cefalorraquídeo: Reporte de Caso. Diagnosis Of Early-Onset Alzheimer’s Disease Using Cerebrospinal Fluid Biomarkers: A Case Report

Alzheimer’s disease (AD) represents between 50% and 75% of dementia cases worldwide. It is classified into two types: Late-onset (LOAD), which is common in individuals over 65 years old, and Early-onset (EOAD), which affects 5-10% of individuals before the age of 65. Its manifestations vary considerably, ranging from typical amnestic presentation in LOAD to atypical forms such as non-fluent aphasia, executive, and visuoperceptive alterations in EOAD, which makes timely diagnosis difficult.

Currently, the diagnostic model goes beyond conventional, proposing the use of biomarkers in cerebrospinal fluid for early detection and management.

In the case presented, we describe a 57-year-old woman with EOAD, characterized by a two-year history of progressive and insidious memory loss accompanied by logopenic aphasia and behavioral changes. In her family history, the patient had a history of dementia in three generations on the maternal side. To confirm the diagnosis, complementary studies were performed such as conventional brain magnetic resonance imaging with perfusion sequences and the measurement of Tau protein and Beta-amyloid peptide biomarkers in cerebrospinal fluid. These analyses confirmed the presence of early-onset Alzheimer’s disease.

In this study, we discuss the diagnostic process of Alzheimer’s disease, emphasizing in the use of biomarkers in cerebrospinal fluid.

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Las Aquaporinas y el Sistema Nervioso Central. Aquaporins and Central Nervous System.

The discovery of aquaporins, which constitute a family of integral membrane proteins, has meant a change with respect to the understanding of water transport in biological membranes. The most important is aquaporin 4 (AQP4) which we will focus on below, although there are two other aquaporins, 1 and 9. These aquaporins are of great importance in the physiology of cell volume control and osmotic control mechanisms of the cells. Also in the control of the flow of glycerol and other solutes. In addition, alterations in its functioning have been related to various diseases of the central nervous system such as neuromyelitis optics, cerebral edema, idiopathic intracranial hypertension or chronic hydrocephalus of the adult among others. A review is made on this topic.

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Hidrocefalia de Presión Normal. Normal Pressure Hydrocephalus.

Normal pressure hydrocephalus is a pathology causing dementia that is reversible. Despite the time elapsed since its discovery, its pathophysiology has not been clearly established and two theories have been proposed that try to explain the process, one based on changes in cerebrospinal fluid flow and the other on cerebral blood flow. In addition, the evaluation and diagnosis process is not determined, since there is no standard method and the symptoms are similar to other pathologies of the central nervous system, leading to the diagnosis as the summation of clinical symptoms and some findings in imaging which are not always constant.

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