Investigation of Genetic Etiology in Neurodegenerative Dementias: Recommendations from the Centro Hospitalar São João Neurogenetics Group

• Autor(a) principal: Massano, João
• Data de Publicação: 2016
• Outros Autores: Leão, Miguel, Garrett, Carolina, Grupo de Neurogenética do Centro Hospitalar São João, On behalf of
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/7583
• topic: Alzheimer Disease/diagnosis; Alzheimer Disease/genetics; Dementia/diagnosis; Dementia/genetics; Frontotemporal Dementia/diagnosis; Frontotemporal Dementia/genetics; Portugal.; Demência/diagnóstico; Demência Frontotemporal/diagnóstico; Demência Frontotemporal/genética; Demência/genética; Doença de Alzheimer/diagnóstico; Doença de Alzheimer/genética.

In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic. Alzheimerdisease may be caused by mutations in PSEN1, PSEN2 and APP. APOE genotyping is not recommended for the diagnostic or genetic counseling purposes in Alzheimer disease. Frontotemporal dementia may be caused by mutations in several genes such as c9orf72, PGRN, MAPT, TBK1, VCP, SQSTM1, and UBQLN2. This paper pragmatically approaches the process of genetic diagnosis in Alzheimer disease and frontotemporal dementia, with specific recommendations for both disorders.