Novel mutations and repeated findings of mutations in familial Alzheimer disease
- 18 March 2005
- journal article
- Published by Springer Nature in neurogenetics
- Vol. 6 (2) , 85-89
- https://doi.org/10.1007/s10048-005-0211-x
Abstract
Twenty-one unrelated patients with a history of suspected familial Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and APP, the known FAD genes encoding the presenilins (PS1 and PS2) and the amyloid precursor protein (APP). The mutation detection rate was 57%. Of the nine pathogenic mutations found in 12 cases, three were in APP, one in PSEN2, and five in PSEN1, including two novel Greek mutations (L113Q and N135S). Whereas our findings suggest the possibility of single founders for the majority of mutations, we found evidence of recurrence of the APP mutations V717L and V717I.Keywords
This publication has 33 references indexed in Scilit:
- High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different GenesAmerican Journal of Human Genetics, 2000
- Polymorphic tetranucleotide repeat site within intron 7 of the β-amyloid precursor protein gene and its lack of association with Alzheimer's diseaseHuman Genetics, 1998
- Wide range in age of onset for chromosome 1‐related familial Alzheimer's diseaseAnnals of Neurology, 1996
- No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.Journal of Medical Genetics, 1996
- A novel presenilin 1 mutation resulting in familial Alzheimerʼs disease with an onset age of 29 yearsNeuroReport, 1996
- Mutations of the presenilin I gene in families with early-onset Alzheimer's diseaseHuman Molecular Genetics, 1995
- Three dinucleotide markers on chromosome 21Human Molecular Genetics, 1994
- A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) geneHuman Molecular Genetics, 1993
- A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's DiseaseScience, 1991
- Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's diseaseNature, 1991