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Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia.

Abstract：

INTRODUCTION:Age of onset modifiers are of considerable importance in Alzheimer's and related dementias. Arboleda-Valesquez et al., reporting on a single PSEN1 subject, suggested that homozygosity for the Christchurch variant of APOE could represent such a modifier. METHODS:We studied APOE Christchurch and Kloth-VS genotypes of five dementia age of onset outliers who carried their families' pathogenic variant, but were asymptomatic at ages beyond the families' average age of onset. RESULTS:Four age of onset outliers with PSEN1/2 and MAPT mutations did not carry the Christchurch variant and a fifth individual was also determined to not be homozygous for this variant. Among them, only one subject (APOE ε3/ε3) carries the Klotho-VS heterozygous genotype. DISCUSSION:From a small but informative sample of five age of onset outliers we show that neither the APOE Christchurch nor the Klotho-VS variant is a common age of onset modifier for three genetic forms of dementia. Larger studies of this association and further research is required to identify additional genetic modifiers.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Yu CE,Chen S,Jayadev S,Bird T

doi

10.1016/j.jns.2020.117143

subject

Has Abstract

pub_date

2020-11-15 00:00:00

pages

117143

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(20)30480-9

journal_volume

418

pub_type

杂志文章

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