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...
متن کاملAutosomal recessive causes likely in early-onset Alzheimer disease.
OBJECTIVES To determine the genetic contribution to non-autosomal dominant early-onset Alzheimer disease (EOAD) (onset age ≤60 years) cases and identify the likely mechanism of inheritance in those cases. DESIGN A liability threshold model of disease was used to estimate heritability of EOAD and late-onset Alzheimer disease (AD) using concordance for AD among parent-offspring pairs. SETTING...
متن کاملSORL1 mutations in early- and late-onset Alzheimer disease
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...
متن کاملPathophysiology of Late Onset Alzheimer Disease
As the world population has aged, the number of people affected by Alzheimer Disease is rapidly increasing in the world. It is important for clinicians to recognize early signs and symptoms of dementia and to note potentially modifiable risk factors and early disease markers. Accumulation of A┚ peptides may be the key event in pathogenesis of AD. The exact mechanism by which A┚ peptide depositi...
متن کاملDelaying the onset of Alzheimer disease
Objectives: There is strong epidemiologic evidence to suggest that older adults who maintain an active lifestyle in terms of social, mental, and physical engagement are protected to some degree against the onset of dementia. Such factors are said to contribute to cognitive reserve, which acts to compensate for the accumulation of amyloid and other brain pathologies. We present evidence that lif...
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ژورنال
عنوان ژورنال: Neurologic Clinics
سال: 2017
ISSN: 0733-8619
DOI: 10.1016/j.ncl.2017.01.005