A novel PSEN2 mutation associated with a peculiar phenotype.

摘要: Background: Mutations of presenilin 2 gene are a rare cause familial Alzheimer disease (AD). We describe an Italian family with hereditary dementia associated novel mutation in the gene. Methods: Clinical investigations diseased subjects; interviews relatives; studies medical records; pedigree analysis; and neuroradiologic, neuropathologic, molecular genetic were carried out pedigree. Results: Genetic analysis showed PSEN2 A85V present proband all analyzed affected members, subject presenting amnesic mild cognitive impairment, young, still asymptomatic subject. The clinical phenotype indicative Lewy body neuropathologic examination demonstrated presence unusually abundant widespread cortical bodies addition to hallmark lesions AD. Other members exhibited typical Conclusions: Our findings add complexity spectrum atypical phenotypes mutations should then be taken into account when considering nosography neurodegenerative diseases. They also support previous data that specific genes may influence extent bodies.