SORL1 Variants in Familial Alzheimer's Disease.
J Alzheimers Dis
; 61(4): 1275-1281, 2018.
Article
in En
| MEDLINE
| ID: mdl-29376855
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Membrane Transport Proteins
/
LDL-Receptor Related Proteins
/
Alzheimer Disease
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Year:
2018
Type:
Article