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PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype
- Source :
- Journal of Alzheimer's disease : JAD. 24(3)
- Publication Year :
- 2011
-
Abstract
- Prion protein (PRNP) gene mutations have recently been associated with clinical pictures resembling Frontotemporal dementia (FTD). We describe a novel seven extra-repeat insertional mutation in the PRNP gene in a family affected by early- onset autosomal dominant FTD previously reported as caused by a PSEN1 mutation in which there was inconsistency between clinical picture and genotype. Both mutations were pathogenic and showed a variable penetrance when present separately; when occurring together, the onset was very early, within the third decade of life. Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia.
- Subjects :
- Adult
Male
Prions
animal diseases
Biology
Gene mutation
Prion Proteins
PRNP
mental disorders
Genotype
medicine
PSEN1
Presenilin-1
Dementia
Humans
Genetic Testing
Age of Onset
Genetics
Aged, 80 and over
Family Health
General Neuroscience
General Medicine
Middle Aged
medicine.disease
Phenotype
Virology
Penetrance
nervous system diseases
Psychiatry and Mental health
Clinical Psychology
Frontotemporal Dementia
Mutation
Female
Geriatrics and Gerontology
Frontotemporal dementia
Subjects
Details
- ISSN :
- 18758908
- Volume :
- 24
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Journal of Alzheimer's disease : JAD
- Accession number :
- edsair.doi.dedup.....76e86dabb0d171f578f8b6a1febf7349