Early-onset Alzheimer Disease and Its Variants
نویسندگان
چکیده
منابع مشابه
Genetic testing for early-onset Alzheimer disease.
The availability of testing for identified risk genes for Alzheimer disease (AD) in patients with clinically probable AD or their at-risk family members raises important questions for the neurologist. Because the potential benefits and risks of testing vary for each patient, physicians need to evaluate whether it is appropriate on a case-by-case basis. This article outlines the testing decision...
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TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are en...
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OBJECTIVE To investigate the top late-onset Alzheimer disease (LOAD) risk loci detected or confirmed by the International Genomics of Alzheimer's Project for association with brain gene expression levels to identify variants that influence Alzheimer disease (AD) risk through gene expression regulation. METHODS Expression levels from the cerebellum (CER) and temporal cortex (TCX) were obtained...
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OBJECTIVE To assess patterns of reduced cortical thickness in different clinically defined variants of early-onset Alzheimer disease (AD) and to explore the hypothesis that these variants span a phenotypic continuum rather than represent distinct subtypes. METHODS The case-control study included 25 patients with posterior cortical atrophy (PCA), 15 patients with logopenic progressive aphasia ...
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OBJECTIVE To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHODS We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select variants. The phenotypic consequences associated with SORL1 mutations were characterized based on cli...
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ژورنال
عنوان ژورنال: CONTINUUM: Lifelong Learning in Neurology
سال: 2019
ISSN: 1080-2371
DOI: 10.1212/con.0000000000000687