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Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

ABSTRACT: We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease.

SUBMITTER: Arboleda-Velasquez JF 

PROVIDER: S-EPMC6898984 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

Arboleda-Velasquez Joseph F JF   Lopera Francisco F   O'Hare Michael M   Delgado-Tirado Santiago S   Marino Claudia C   Chmielewska Natalia N   Saez-Torres Kahira L KL   Amarnani Dhanesh D   Schultz Aaron P AP   Sperling Reisa A RA   Leyton-Cifuentes David D   Chen Kewei K   Baena Ana A   Aguillon David D   Rios-Romenets Silvia S   Giraldo Margarita M   Guzmán-Vélez Edmarie E   Norton Daniel J DJ   Pardilla-Delgado Enmanuelle E   Artola Arabiye A   Sanchez Justin S JS   Acosta-Uribe Juliana J   Lalli Matthew M   Kosik Kenneth S KS   Huentelman Matthew J MJ   Zetterberg Henrik H   Blennow Kaj K   Reiman Rebecca A RA   Luo Ji J   Chen Yinghua Y   Thiyyagura Pradeep P   Su Yi Y   Jun Gyungah R GR   Naymik Marcus M   Gai Xiaowu X   Bootwalla Moiz M   Ji Jianling J   Shen Lishuang L   Miller John B JB   Kim Leo A LA   Tariot Pierre N PN   Johnson Keith A KA   Reiman Eric M EM   Quiroz Yakeel T YT  

Nature medicine 20191104 11

We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and p  ...[more]

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