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. 2021 Jun;47(4):579-582.
doi: 10.1111/nan.12670. Epub 2020 Nov 5.

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

Isabel Hernandez  1   2 , Ellen Gelpi  3   4 , Laura Molina-Porcel  4 , Sara Bernal  5   6 , Benjamín Rodríguez-Santiago  5   6 , Oriol Dols-Icardo  2   7 , Agustín Ruiz  1   2 , Daniel Alcolea  2   7 , Mercè Boada  1   2 , Alberto Lleó  2   7 , Jordi Clarimón  2   7
Affiliations

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

Isabel Hernandez et al. Neuropathol Appl Neurobiol. 2021 Jun.

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.

Keywords: APOE; Alzheimer's disease; Christchurch; early-onset Alzheimer's disease; genetics; mutation.

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References

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