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P2‐018: Novel, probably pathogenic PSEN1 mutation (G209A) in a korean Alzheimer's disease patient
Author(s) -
Bagyinszky Eva,
Youn Young Chul,
An Seong Soo,
Kim SangYun
Publication year - 2015
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.2015.06.554
Subject(s) - psen1 , genetics , presenilin , mutation , missense mutation , in silico , sanger sequencing , biology , gene , medicine , alzheimer's disease , disease , pathology
age at onset (AAO), affect more family members and more generations, and carry less ApoEε4 allele (Table 2). When the equation was applied as followed: risk score1⁄4 -13AAO+33the number of affected individuals+103ApoE ε4 positive, the FAD with mutations were predicted very well (area under curve 0.89) with the high sensitivity (68%) and specificity (98%) (Figure 1). For phenotype of FAD families with mutations, there were no group difference in PSEN1 and APP mutations pedigrees in terms of mean AAO (54.4 vs 50.0 years, p1⁄40.383), the number of affected family members (6.5 vs 5.8, p1⁄40.724) and affected generations, or ApoE ε4 status (Table 3). Conclusions: Six novel mutations in PSEN1, PSEN2 or APP were identified in Chinese Han FAD pedigrees. FAD with mutations was significantly predicted by the number of affected individuals, AAO and ApoEε4. No significant difference between APP and PSEN1 mutations was found in China in terms of phenotype.