6533b7d9fe1ef96bd126c3ab
RESEARCH PRODUCT
A novel mutation (Thr116IIe) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease
V. La BellaRita CittadellaFederico PiccoliMaria LiguoriTommaso PiccoliIda MannaAldo QuattroneN. Settipanisubject
ThreonineProbandDNA Mutational AnalysisDiseaseBioinformaticsGenetic analysisPresenilinMutation CarrierAlzheimer DiseasePolymorphism (computer science)Presenilin-1medicineHumansEarly-onset Alzheimer's diseaseIsoleucineGeneticsbusiness.industryMembrane ProteinsMiddle Agedmedicine.diseaseNeurologyMutationMutation (genetic algorithm)FemaleSettore MED/26 - NeurologiaNeurology (clinical)businessAlzheimer's Disease Novel mutation Presenilin 1description
We report a novel presenilin 1 (PSN1) mutation (Thr116Ile) in a woman with early onset Alzheimer's disease (AD). This mutation was not found in 100 healthy controls, indicating that this is not a common polymorphism. The patient presented with forgetfulness at age 45, followed over the next 3 years by a worsening of the memory loss and frequent episodes of confusion and spatial disorientation. Neuroimaging studies were consistent with AD. The analysis of the family's pedigree showed that the proband was apparently the only member affected. Because the early death of several close relatives (i.e. the mother and the grandmother) and the demonstration that the father is not a mutation carrier, it is suggested that either a de novo mutation or a censor effect might have occurred. Our finding supports the indication that PSN1 mutations should be searched for in early-onset AD, particularly when a censor effect precludes a precise genetic analysis.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2004-01-01 |