https://scholars.lib.ntu.edu.tw/handle/123456789/519932
標題: | Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease | 作者: | Wu Y.-Y. Cheng I.H.-J. Lee C.-C. MING-JANG CHIU MING-JEN LEE TA-FU CHEN Hsu J.-L. |
公開日期: | 2011 | 出版社: | IOS Press | 卷: | 25 | 期: | 1 | 起(迄)頁: | 145-150 | 來源出版物: | Journal of Alzheimer's Disease | 摘要: | Familial Alzheimer's disease (FAD) is genetically heterogeneous, autosomal dominant, with nearly 100% penetrance. In FAD, most common causative genetic mutations are presenilin 1 (PSEN1), presenilin 2 and amyloid-β protein precursor. We demonstrate a family presenting as early-onset AD with a rapid deterioration course and seizure developed after 1.5 years of symptoms. A histopathological examination of the frontal cortex showed amyloid deposition and abundant phosphorylated tau deposition. In both cases, a single nucleotide mutation from guanine to adenine at exon 7 was found in PSEN1 (c.617G>A, codon change from GGT to GAT). Though G206D mutation in PSEN1 gene was found in FAD, no clinical phenotype or pathological finding was documented. This is the first report of PSEN1 mutation (Gly206Asp) with features of seizure and a rapid progressive cognitive decline in a pathologically confirmed case of FAD. ? 2011 - IOS Press and the authors. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-79959684129&doi=10.3233%2fJAD-2011-102031&partnerID=40&md5=c57832258c82e6ea93d4f32c502b39b4 https://scholars.lib.ntu.edu.tw/handle/123456789/519932 |
ISSN: | 1387-2877 | DOI: | 10.3233/JAD-2011-102031 | SDG/關鍵字: | adenine; amyloid protein; aspartic acid; glycine; guanine; presenilin 1; tau protein; adult; Alzheimer disease; amino acid substitution; article; case report; codon; cognitive defect; controlled study; disease course; exon; familial disease; female; frontal cortex; grand mal seizure; histopathology; human; human tissue; mutational analysis; neurologic examination; neuropathology; nuclear magnetic resonance imaging; phenotype; priority journal; protein phosphorylation; single nucleotide polymorphism; single photon emission computer tomography |
顯示於: | 醫學系 |
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