Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
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ABSTRACT:
SUBMITTER: Nicolas G
PROVIDER: S-EPMC6544509 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Publications
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas Gaël G Acuña-Hidalgo Rocío R Keogh Michael J MJ Quenez Olivier O Steehouwer Marloes M Lelieveld Stefan S Rousseau Stéphane S Richard Anne-Claire AC Oud Manon S MS Marguet Florent F Laquerrière Annie A Morris Chris M CM Attems Johannes J Smith Colin C Ansorge Olaf O Al Sarraj Safa S Frebourg Thierry T Campion Dominique D Hannequin Didier D Wallon David D Gilissen Christian C Chinnery Patrick F PF Veltman Joris A JA Hoischen Alexander A
Alzheimer's & dementia : the journal of the Alzheimer's Association 20180813 12
<h4>Introduction</h4>A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2. We hypothesized that negatively screened patients may harbor somatic variants in these genes.<h4>Methods</h4>We applied an ultrasensitive approach based on single-molecule molecular inversion probes followed by deep next generation sequencing of 11 genes to 100 brain and 355 blood samples from 445 sporadic ...[more]
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