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- Title
Familial Semantic Dementia with P301L Mutation in the Tau Gene.
- Authors
Ishizuka, Takanori; Nakamura, Masayuki; Ichiba, Mio; Sano, Akira
- Abstract
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. Copyright © 2011 S. Karger AG, Basel
- Subjects
BRAIN; DEMENTIA; GENES; RESEARCH methodology; GENETIC mutation; RESEARCH funding; GENETICS
- Publication
Dementia & Geriatric Cognitive Disorders, 2011, Vol 31, Issue 5, p334
- ISSN
1420-8008
- Publication type
Article
- DOI
10.1159/000328412