Familial semantic dementia with P301L mutation in the Tau gene
| Autor: | Masayuki Nakamura, Takanori Ishizuka, Mio Ichiba, Akira Sano |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Male
Cognitive Neuroscience Semantic dementia tau Proteins Neuropsychological Tests Bioinformatics Central nervous system disease Degenerative disease Japan mental disorders medicine Semantic memory Humans Gene Aged Tomography Emission-Computed Single-Photon business.industry Cognitive disorder Brain Frontotemporal lobar degeneration DNA Middle Aged medicine.disease Pedigree Psychiatry and Mental health Mutation (genetic algorithm) Mutation Female Geriatrics and Gerontology Frontotemporal Lobar Degeneration business Neuroscience |
| Zdroj: | Dementia and geriatric cognitive disorders. 31(5) |
| ISSN: | 1421-9824 |
| Popis: | Background/Aims: Semantic dementia (SD) is a clinical subclassification of frontotemporal lobar degeneration. Patients with ‘pure SD’ present with semantic memory impairment preceding the frontal symptoms, and there have been no reports of familial cases. Methods: We evaluated the clinical features of, and performed neuropsychological examinations on, the proband and two affected family members. Then we performed neuroimaging and genetic analysis of MAPT and other dementia-related genes in the proband. Results: All three cases had semantic memory impairment with loss of word meanings as the primary early symptom. We diagnosed all cases as pure SD and identified a P301L mutation in the MAPT gene of the proband. Conclusion: Although the P301L mutation identified here has been previously described as pathogenic for frontotemporal dementia with parkinsonism-17 (FTDP-17), the proband and his two affected relatives showed different clinical symptoms from those of typical FTDP-17 cases who carry the P301L mutation. Pathologically, pure SD usually shows a TAR DNA-binding protein proteinopathy, but the molecular understanding of SD is not well established. Although our cases were clinically pure SD, the proband has a tau gene mutation, which would lead to tauopathy. These findings suggest that reconsideration of the molecular understanding of SD is warranted. |
| Databáze: | OpenAIRE |
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