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

Hernandez I,Gelpi E,Molina-Porcel L,Bernal S,Rodríguez-Santiago B,Dols-Icardo O,Ruiz A,Alcolea D,Boada M,Lleó A,Clarimón J

doi

10.1111/nan.12670

subject

Has Abstract

pub_date

2020-10-23 00:00:00

eissn

0305-1846

issn

1365-2990

pub_type

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