Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification
- Authors
- Kim, Hee-Jin; Kim, Hyun Young; Ki, Chang-Seok; Kim, Seung Hyun
- Issue Date
- Dec-2010
- Publisher
- SPRINGER-VERLAG ITALIA SRL
- Keywords
- Early-onset Alzheimer' s disease; Presenilin 1; M139I
- Citation
- NEUROLOGICAL SCIENCES, v.31, no.6, pp.781 - 783
- Indexed
- SCIE
SCOPUS
- Journal Title
- NEUROLOGICAL SCIENCES
- Volume
- 31
- Number
- 6
- Start Page
- 781
- End Page
- 783
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/173362
- DOI
- 10.1007/s10072-010-0233-5
- ISSN
- 1590-1874
- Abstract
- Mutations in the presenilin 1 (PSEN1) gene are more commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 2 (PSEN2) genes. More than 100 different mutations in the PSEN1 gene have been detected, and the clinical phenotypes have been described in the literature. This paper reports the case of a 38-year-old female showing early memory impairment and having a base pair mutation from guanine (G) to cytosine (C) at codon 139 of PSEN1, which leads to the substitution of a methionine with an isoleucine.
- Files in This Item
-
Go to Link
- Appears in
Collections - 서울 의과대학 > 서울 신경과학교실 > 1. Journal Articles
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.