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Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia
- Source :
- Neurobiology of aging. 30(11)
- Publication Year :
- 2007
-
Abstract
- Background Frontotemporal dementia is a clinically and genetically heterogeneous syndrome. Mutations in two genes, Microtubule Associated Protein Tau (MAPT) and Progranulin (PGRN), and rarely Presenilin mutations, have been causally linked to this disorder. Objective To investigate the presence of PGRN, PSEN1, PSEN2 and APP mutations in a group of familial early-onset frontotemporal dementia (f-EOFTD) patients negative for MAPT gene mutations. Subjects and methods We prospectively studied 17 unrelated subjects diagnosed with f-EOFTD (one case neuropathologically confirmed as FTD-Ub+). Among these subjects eight belonged to eight autosomal dominant families unrelated to each other, and nine had at least one first degree relative affected by dementia. Results We identified two novel heterozygous mutations in two unrelated patients, Cys139Arg in the PGRN gene and Val412Ile in the PSEN1 gene. Conclusions Early-onset f-FTD remains a heterogeneous disorder from a genetic point of view. PGRN mutation frequency was low in our sample. The presence of a novel PSEN1 mutation suggests that presenilin molecular studies should be performed when screening for MAPT and PGRN genes is negative.
- Subjects :
- Adult
Male
Aging
DNA Mutational Analysis
Gene mutation
Biology
medicine.disease_cause
Arginine
Presenilin
Progranulins
Fluorodeoxyglucose F18
mental disorders
PSEN2
PSEN1
medicine
Presenilin-1
Dementia
Humans
Genetic Predisposition to Disease
Cysteine
Radionuclide Imaging
Genetics
Family Health
Mutation
Genetic heterogeneity
General Neuroscience
Middle Aged
medicine.disease
Frontotemporal Dementia
Intercellular Signaling Peptides and Proteins
Female
Neurology (clinical)
Geriatrics and Gerontology
Microtubule-Associated Proteins
Developmental Biology
Frontotemporal dementia
Subjects
Details
- ISSN :
- 15581497
- Volume :
- 30
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- Neurobiology of aging
- Accession number :
- edsair.doi.dedup.....e58755df3f283d0c4b9fa3915af5e515