Dementia and geriatric cognitive disorders · 2012
Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.
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Ishizuka Takanori, Nakamura Masayuki, Ichiba Mio, Fujita Seigo, Takeuchi Kouzo, Fujimoto Toshiro, Sano Akira
Аннотация
BACKGROUND: Mutations in the presenilin-1 gene (PSEN1) have been identified in autosomal dominant early-onset cases of Alzheimer's disease (AD).
AIMS: To investigate different clinical phenotypes of siblings possessing the same heterozygous P264L mutation in the PSEN1 gene.
METHODS: We evaluated clinical features, neuroimaging results, and neuropsychological examinations. The PSEN1 gene and other dementia-related gene mutations were screened.
RESULTS: We clinically diagnosed the proband as atypical AD with frontotemporal dementia features and diagnosed the elder brother of the proband as typical AD, based on neuropsychological symptoms and a brain imaging examination including amyloid imaging data. A heterozygous P264L mutation in the PSEN1 gene was identified in both siblings.
CONCLUSION: This study is one of few reports of AD siblings possessing the same mutation but exhibiting different clinical phenotypes in a Japanese family possessing a P264L mutation in the PSEN1 gene. The current results suggest that unknown modifiers, including both genetic and epigenetic factors, may alter the pathological and clinical phenotypes of a genetically predetermined disease.
AIMS: To investigate different clinical phenotypes of siblings possessing the same heterozygous P264L mutation in the PSEN1 gene.
METHODS: We evaluated clinical features, neuroimaging results, and neuropsychological examinations. The PSEN1 gene and other dementia-related gene mutations were screened.
RESULTS: We clinically diagnosed the proband as atypical AD with frontotemporal dementia features and diagnosed the elder brother of the proband as typical AD, based on neuropsychological symptoms and a brain imaging examination including amyloid imaging data. A heterozygous P264L mutation in the PSEN1 gene was identified in both siblings.
CONCLUSION: This study is one of few reports of AD siblings possessing the same mutation but exhibiting different clinical phenotypes in a Japanese family possessing a P264L mutation in the PSEN1 gene. The current results suggest that unknown modifiers, including both genetic and epigenetic factors, may alter the pathological and clinical phenotypes of a genetically predetermined disease.