Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
作者： Carolina Muchnik , Natividad Olivar , María Carolina Dalmasso , Pablo Javier Azurmendi , Cynthia Liberczuk
DOI: 10.1016/J.NEUROBIOLAGING.2015.06.011
关键词:
摘要: Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence pathogenicity. We aimed to investigate the presence PSEN2 mutation p.N141I characterize clinical phenotypes in Argentine pedigrees (AR2 AR3) with symptoms EOFAD. Detailed assessments genetic screening APOE genes were carried out 19 individuals AR2 AR3 families. The was identified affected subjects associated prominent early onset, rapidly progressive dementia, neurologic, behavioral symptoms. families share same Volga German ancestry as reported presenting this mutation. To our knowledge, is first report Argentina even more, South America. Our contribution increases total number described carrying help improve characterization phenotype EOFAD mutations.
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