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P1‐134: LOSS OF NETWORK INTEGRATION IS RELATED TO COGNITIVE IMPAIRMENT IN DEMENTIA WITH LEWY BODIES
Author(s) -
Lemstra Afina W.,
Dellen Edwin,
Waal Hanneke,
Flier Wiesje M.,
Slooter Arjen,
Smits Lieke,
Straaten E.C.W.,
Stam Cornelis,
Scheltens Philip
Publication year - 2014
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2014.05.371
Subject(s) - dementia with lewy bodies , dementia , audiology , betweenness centrality , cognition , electroencephalography , cognitive decline , mini–mental state examination , alzheimer's disease , medicine , psychology , neuroscience , disease , centrality , mathematics , combinatorics
Background: Alzheimer’s Disease could be devided into early onset AD and late onset AD. In EOAD, three genes, APP, PSEN1 and PSEN2, were distinguished as themain risk factors. InAsia, no PSEN2mutationswere previously published.Methods: In our study, 54 EOAD patients were screened for APP, PSEN1, PSEN2 and PRNP exons. PCRsingle strand conformation polymorphism (SSCP) and sequencing were performed. To predict the structural changes and their consequential effects, in silicomodelling was also used.Results: PSEN2 R62C was found for the first time in Asia in a Korean EOAD patient. PSEN2 was reported as a rare risk factor for AD due to limited finding. Conclusions: PSEN2 R62C was previously described in a Belgian AD patient and in two asymptomic relatives. The age of onset was over 65 years. Even though the pathogenic nature of R62C was unclear, elevated Abeta42 levels was detected in the relatives of LOAD patient with PSEN2 mutations (R62H or R62C). PSEN2 R62C is the second reported mutation in Asia, followed by the first PSEN2variant (V214L), a novel possibly pathogenic mutation, which was also discovered by our research group.