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P2‐192: Genetic and Clinical Analysis of Mapt, GRN, C9ORF72 and CHCHD10 in Patients with Behavioral Variant of Frontotemporal Dementia from China
Author(s) -
Gu Xiao-hua,
Xu Jun,
Chen Jiaxing,
Shen Lu
Publication year - 2016
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.2016.06.1359
Subject(s) - c9orf72 , frontotemporal dementia , trinucleotide repeat expansion , frontotemporal lobar degeneration , phenotype , genetics , dementia , psychology , age of onset , disease , gene , biology , medicine , allele
Background:Ethnic diversity is a unique characteristic of the Jewish population. During the last years we observed higher early onset Alzheimer’s disease (EOAD) prevalence in African/Asian Jewish descent compared to European/American descent with emphasis on Yemenite origin. In order to explore our observation we retrospectively reviewed characteristics of EOAD subjects referred to our clinic in the last 2 decades. Methods:Retrospective analysis of the cognitive neurology clinic database between the years 1993-2015 was performed. The reviewed cohort consisted of 4078 subjects. We screened for Jewish origin Alzheimer’s disease (AD) patients diagnosed under the age of 65(EOAD). Further subgroup analysis for EOAD dementia (EOADD) diagnosed with AD dementia under the age of 65 was carried out as well. Patients were excluded if an alternative diagnosis was eventually given. Each patient was evaluated for: Gender, Ethnicity, years of education, hypertension, diabetes mellitus, depression, smoking, MMSE score and brain imaging. Our cohort characteristics were compared to a nationwide Israeli health review survey. Results: EOAD was diagnosed in 117 patients (76 women), age of onset between 40 and 64 (mean 58.764.63). Of those, 91 subjects (58 women) were diagnosed having EOADD. In the EOAD group 70 subjects (59.82%) were of European/American origin compared to 47 of African/ Asian origin (40.18%) (p1⁄40.07). Yemenite descent (n1⁄417) was significantly overrepresented compared to the general population survey (p1⁄40.0005). After controlling for known AD risk factors Yemenite origin continued to be a significant risk factor (OR1⁄42.36). Similar results were demonstrated in the subgroup analysis for EOADD patients (Yemenite origin, OR1⁄42.86). In the EOADD group African/Asian origin was significantly overrepresented compared to the general population survey (p1⁄40.006). Conclusions: In our EOAD cohort Yemenite origin was significantly overexpressed compared to the general population after controlling for other risk factors. Discrete genetic mutations were described in Yemenite Jewish descents in other diseases. Valuable information regarding genetic and environmental risk factors can be deduced from further assessment of this population.