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SORL1 Variants in Familial Alzheimer's Disease.
- Source :
- Journal of Alzheimer's Disease; 2018, Vol. 61 Issue 4, p1275-1281, 7p
- Publication Year :
- 2018
-
Abstract
- The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's disease (AD) physiopathology. We screened for SORL1 variants in 124 familial (44 early- and 80 late-onset) dementia of Alzheimer type (DAT) cases. Nine potentially pathogenic changes (three not previously reported and six rare variants) were found in nine probands (7%). After screening the control population and siblings (presence in at least 1/200 controls and/or absence of segregation pattern), a causal relationship with the disease was considered unlikely in six variants and uncertain in one. The change Trp848Ter and a splice-site variant remained likely correlated with the disease. SORL1 mutations are present in 7% of our familial DAT cohort, though in most cases cannot be considered the direct cause of the disease. [ABSTRACT FROM AUTHOR]
- Subjects :
- GENETICS of Alzheimer's disease
ALZHEIMER'S patients
PATHOLOGICAL physiology
ALZHEIMER'S disease diagnosis
PATHOGENIC microorganisms
GENETIC mutation
ALZHEIMER'S disease
SIBLINGS
COMPARATIVE studies
DISEASE susceptibility
GENES
GENETIC polymorphisms
RESEARCH methodology
MEDICAL cooperation
PROTEINS
RESEARCH
EVALUATION research
CASE-control method
MEMBRANE transport proteins
Subjects
Details
- Language :
- English
- ISSN :
- 13872877
- Volume :
- 61
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Journal of Alzheimer's Disease
- Publication Type :
- Academic Journal
- Accession number :
- 127561485
- Full Text :
- https://doi.org/10.3233/JAD-170590