Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease
| Autor: | Karen Holbrook, Geoffrey A. Kerchner |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
Proband
Adult Molecular Sequence Data medicine.disease_cause Polymorphism Single Nucleotide Presenilin Alzheimer Disease mental disorders medicine Presenilin-1 Dementia Missense mutation Humans Early-onset Alzheimer's disease Amino Acid Sequence Allele Sequence (medicine) Genetics Mutation business.industry General Neuroscience medicine.disease Pedigree Female business |
| Zdroj: | Neuroscience letters. 531(2) |
| ISSN: | 1872-7972 |
| Popis: | Background Mutations in the gene for presenilin-1 cause familial, early-onset Alzheimer's disease. Methods We report the case of a 43-year-old woman presenting with progressive cognitive decline and a family history of early-onset dementia. Her workup included cerebrospinal fluid amyloid-beta, tau, and phospho-tau levels, as well as genetic sequencing of genes implicated in familial Alzheimer's disease. Results Cerebrospinal fluid biomarkers were consistent with a diagnosis of Alzheimer's disease. A novel nucleotide sequence variant (A476T) was discovered in one allele for presenilin-1, corresponding to a missense tyrosine-to-phenylalanine change at codon 159 (Y159F). An affected maternal uncle carried the same allele. The sequence variant occurs in a conserved region of the gene near other previously reported mutations. Conclusions This novel presenilin-1 sequence variant cosegregated with early onset dementia in the proband and at least one other affected family member, and likely represents a mutation causing familial, early-onset Alzheimer's disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect