RESUMEN
The increasing prevalence of cognitive dysfunction and dementia in developed countries, associated with population aging, has generated great interest in characterizing and quantifying cognitive deficits in these patients. An essential tool for accurate diagnosis is cognitive assessment, a lengthy process that depends on the cognitive domains analyzed. Cognitive tests, functional capacity scales, and advanced neuroimaging studies explore the different mental functions in clinical practice. On the other hand, animal models of human diseases with cognitive impairment are essential for understanding disease pathophysiology. The study of cognitive function using animal models encompasses multiple dimensions, and deciding which ones to investigate is necessary to select the most appropriate and specific tests. Therefore, this review studies the main cognitive tests for assessing cognitive deficits in patients with neurodegenerative diseases. Cognitive tests, the most commonly used functional capacity scales, and those resulting from previous evidence are considered. In addition, the leading behavioral tests that assess cognitive functions in animal models of disorders with cognitive impairment are highlighted.
Asunto(s)
Trastornos del Conocimiento , Disfunción Cognitiva , Enfermedades Neurodegenerativas , Animales , Humanos , Trastornos del Conocimiento/complicaciones , Disfunción Cognitiva/diagnóstico , Disfunción Cognitiva/complicaciones , Cognición , Pruebas Neuropsicológicas , Enfermedades Neurodegenerativas/complicacionesRESUMEN
Huntington's disease (HD) is a devastating neurodegenerative disorder that is caused by an abnormal expansion of CAG repeats in the Huntingtin (HTT) gene. Although the main symptomatology is explained by alterations at the level of the central nervous system, predominantly affecting the basal ganglia, a peripheral component of the disease is being increasingly acknowledged. Therefore, the manifestation of the disease is complex and variable among CAG expansion carriers, introducing uncertainty in the appearance of specific signs, age of onset and severity of disease. The monogenic nature of the disorder allows a precise diagnosis, but the use of biomarkers with prognostic value is still needed to achieve clinical management of the patients in an individual manner. In addition, we need tools to evaluate the patient's response to potential therapeutic approaches. In this review, we provide a succinct summary of the most interesting molecular biomarkers that have been assessed in patients, mostly obtained from body fluids such as cerebrospinal fluid, peripheral blood and saliva.
Asunto(s)
Enfermedad de Huntington , Enfermedades Neurodegenerativas , Biomarcadores , Heterocigoto , Humanos , Proteína Huntingtina/genética , Enfermedad de Huntington/diagnóstico , Enfermedad de Huntington/genética , Enfermedad de Huntington/terapiaRESUMEN
No disponible
Asunto(s)
Humanos , Enfermedad de Fabry/terapia , Tamizaje Masivo/métodos , Predisposición Genética a la EnfermedadAsunto(s)
Isquemia Encefálica/etiología , Enfermedad de Fabry/complicaciones , Accidente Vascular Cerebral Lacunar/etiología , Terapia de Reemplazo Enzimático , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/tratamiento farmacológico , Enfermedad de Fabry/genética , Enfermedad de Fabry/orina , Parálisis Facial/etiología , Globósidos/orina , Humanos , Hipoestesia/etiología , Intrones/genética , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Espasticidad Muscular/etiología , Neuroimagen , Recurrencia , Eliminación de Secuencia , Trihexosilceramidas/orina , alfa-Galactosidasa/genética , alfa-Galactosidasa/uso terapéuticoRESUMEN
No disponible
