Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes.

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.

• Authors: Isabel Hernandez, Ellen Gelpi, Laura Molina-Porcel, Sara Bernal, Benjamín Rodríguez-Santiago, Oriol Dols-Icardo, Agustín Ruiz, Daniel Alcolea, Mercè Boada, Alberto Lleó, Jordi Clarimón
• Journal: Neuropathology and applied neurobiology (Neuropathol Appl Neurobiol) Vol. 47 Issue 4 Pg. 579-582 (06 2021) ISSN: 1365-2990 [Electronic] England
• PMID: 33095930 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
• Copyright: © 2020 British Neuropathological Society.

Chemical References

• ApoE protein, human
• Apolipoproteins E

Topics

• Aged
• Alzheimer Disease (genetics, pathology)
• Apolipoproteins E (genetics)
• Brain (pathology)
• Heterozygote
• Humans
• Male
• Mutation
• Pedigree