RESUMO
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.
Assuntos
Transtornos Cognitivos , Disfunção Cognitiva , Doenças Neurodegenerativas , Animais , Humanos , Transtornos Cognitivos/complicações , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/complicações , Cognição , Testes Neuropsicológicos , Doenças Neurodegenerativas/complicaçõesRESUMO
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.
Assuntos
Doença de Huntington , Doenças Neurodegenerativas , Biomarcadores , Heterozigoto , Humanos , Proteína Huntingtina/genética , Doença de Huntington/diagnóstico , Doença de Huntington/genética , Doença de Huntington/terapiaRESUMO
No disponible
Assuntos
Humanos , Doença de Fabry/terapia , Programas de Rastreamento/métodos , Predisposição Genética para DoençaAssuntos
Isquemia Encefálica/etiologia , Doença de Fabry/complicações , Acidente Vascular Cerebral Lacunar/etiologia , Terapia de Reposição de Enzimas , Doença de Fabry/diagnóstico , Doença de Fabry/tratamento farmacológico , Doença de Fabry/genética , Doença de Fabry/urina , Paralisia Facial/etiologia , Globosídeos/urina , Humanos , Hipestesia/etiologia , Íntrons/genética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/etiologia , Neuroimagem , Recidiva , Deleção de Sequência , Triexosilceramidas/urina , alfa-Galactosidase/genética , alfa-Galactosidase/uso terapêuticoRESUMO
No disponible
