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Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation
- Source :
- Brain pathology (Zurich, Switzerland). 23(5)
- Publication Year :
- 2012
-
Abstract
- Most of the mutations in the presenilin-1 gene (PS-1) are associated with familial Alzheimer’s disease (AD). However, certain examples can be associated with frontotemporal dementia (FTD). We performed a clinical evaluation of individuals belonging to a family with the FTD phenotype, and additional molecular studies and neuropathological assessment of the proband. The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. Neuropathological examination showed abundant amyloid plaques, widespread neurofibrillary pathology, Pick bodies in the hippocampus and cortex, cortical globose tangles and ubiquitin-positive nuclear inclusions in white matter oligodendrocytes. We report a kindred with clinical features of FTD, whose proband bore the PS-1 M146V mutation and showed diffuse Alzheimer’s type pathology and Pick bodies on post-mortem neuropathological examination. As with other mutations within the same codon, this substitution may predispose to both diseases by affecting APP and/or tau processing.
- Subjects :
- Adult
Family Health
Inclusion Bodies
Male
Tomography Scanners, X-Ray Computed
DNA Mutational Analysis
nutritional and metabolic diseases
Electroencephalography
Plaque, Amyloid
Valine
Middle Aged
Neuropsychological Tests
Magnetic Resonance Imaging
Temporal Lobe
Article
Frontal Lobe
Methionine
mental disorders
Presenilin-1
Humans
Dementia
Female
Subjects
Details
- ISSN :
- 17503639
- Volume :
- 23
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Brain pathology (Zurich, Switzerland)
- Accession number :
- edsair.pmid..........0cc2a7f18ea2d782f8033250ff0c2f50