Heterozygous <i>APOE</i> Christchurch in familial Alzheimer’s disease without mutations in other Mendelian genes
Isabel de la Torre Díez, Ellen Gelpí, Laura Molina‐Porcel, Sara Bernal, Benjamín Rodríguez‐Santiago, Oriol Dols‐Icardo, Agustı́n Ruiz, Daniel Alcolea, Merçé Boada, Alberto Lleó, Jordi Clarimón
Abstract
We present the clinical and neuropathological findings of a patient with early onset Alzheimer's dementia (AD), heterozygous carrier of the rare Apolipoprotein E Christchurch (APOEch) variant. The patient did not harbor any pathogenic mutation in known Mendelian genes related to AD or other neurodegenerative disorders. A sibling of this patient, also carrying the APOEch variant, developed AD at the age of 66 years old. Our data suggest a possible deleterious effect of this variant, which contrast with the protective role that has been previously shown in a subject homozygous for the APOEch with he Paisa PSEN1 mutation. None of the authors have any conflict of interest to disclose. Data sharing is not applicable for this manuscript. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.