Title | SORL1 Variants in Familial Alzheimer's Disease. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Gómez-Tortosa, E, Ruggiero, M, Sainz, MJosé, Villarejo-Galende, A, Prieto-Jurczynska, C, Pérez, BVenegas, Ordás, C, Agüero, P, Guerrero-López, R, Pérez-Pérez, J |
Journal | J Alzheimers Dis |
Volume | 61 |
Issue | 4 |
Pagination | 1275-1281 |
Date Published | 2018 |
ISSN | 1875-8908 |
Keywords | Aged, Alzheimer Disease, Case-Control Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, LDL-Receptor Related Proteins, Male, Membrane Transport Proteins, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Siblings, Spain |
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. |
DOI | 10.3233/JAD-170590 |
Alternate Journal | J. Alzheimers Dis. |
PubMed ID | 29376855 |