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Heterozygous APOE Christchurch in familial Alzheimer’s disease without mutations in other Mendelian genes
Author(s) -
Hernandez Isabel,
Gelpi Ellen,
MolinaPorcel Laura,
Bernal Sara,
RodríguezSantiago Benjamín,
DolsIcardo Oriol,
Ruiz Agustín,
Alcolea Daniel,
Boada Mercè,
Lleó Alberto,
Clarimón Jordi
Publication year - 2021
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/nan.12670
Subject(s) - mendelian inheritance , dementia , apolipoprotein e , psen1 , sibling , genetics , mutation , alzheimer's disease , disease , omim : online mendelian inheritance in man , medicine , gene , degenerative disease , biology , presenilin , pathology , psychology , phenotype , developmental psychology
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.