Background: Schizophrenia (SCZ) and dementia, often related, are two of the most common neuropsychiatric diseases; epidemiological studies have shown that SCZ patients present a 2-fold increased risk for dementia compared to non-schizophrenic individuals. We explored the presence of rare and novel damaging gene variants in patients diagnosed with late-onset dementia of Alzheimer's type (DAT) or SCZ.
Methods: We included 7 DAT and 12 SCZ patients and performed high-depth targeted sequencing of 184 genes.
Results: We found novel and rare damaging variants in 18 genes in these Mexican patients. Carriers of these variants showed extreme phenotypes, including, treatment-resistant SCZ or cognitive decline. Furthermore, we found a variation on ABCC1 as a possible link between psychosis and cognitive impairment.
Discussion: As an exploratory analysis, we report some interesting variations that should be corroborated in larger sample size studies.
Keywords: Dementia; Next-generation sequencing; Novel variants; Rare variants; Schizophrenia.
Copyright: © 2019 Permanyer.