Identification of a rare amyloid precursor protein gene mutation in a Chinese family with early-onset familial Alzheimer's disease

Chinese Journal of Neurology

Volumn 44, Issue 1, 2011, Pages 47-51

  Nan, Shan Ji ^a   Han, Yan Qiu ^a   Fan, Jia ^a   Chen, Qiu Hui ^a  

^a THE SECOND HOSPITAL OF JILIN UNIVERSITY   (China)

Author keywords

Alzheimer disease; Amyloid beta protein precursor; Exons; Mutation; Pedigree

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E4; GENOMIC DNA; PRESENILIN 1; PRESENILIN 2;

ADULT; ALLELE; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; BLINKING; BRADYKINESIA; BRAIN CORTEX ATROPHY; CASE REPORT; CHINESE; DNA EXTRACTION; EARLY ONSET FAMILIAL ALZHEIMER DISEASE; ELECTROENCEPHALOGRAPHY; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; IRRITABILITY; MEMORY DISORDER; NEUROPSYCHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PSYCHOLOGIC ASSESSMENT; TEMPORAL CORTEX;

EID: 84860625091     PISSN: 10067876     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1006-7876.2011.01.013     Document Type: Article

References (10)

1. Van Broeckhoven C L. Molecular genetics of Alzheimer disease: identification of genes and gene mutations. Eur Neurol, 1995, 35: 8-19.
2. Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet, 1999, 65:664-670.
3. Dubois B, Feldman H H, Jacova C, et al. Research criteria for the diagnosis of Alzheimer's disease: revising the NINCDS-ADRDA criteria. Lancet Neurol, 2007, 6:734-746.
4. Bird T D. Early-Onset Familial Alzheimer Disease//Pagon RA, Bird TC, Dolan CR, et al. GeneReviews [M/OL]. Seattle (WA): University of Washington, 1993 [2009-04-28]. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book =gene&part=alzheimer-early.
5. Cruts M, van Duijn C M, Backhovens H, et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet, 1998, 7:43-51.
6. 2003, 36:102-105.
7. 2009, 17:261-266.
8. Janssen J C, Beck J A, Campbell T A, et al. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology, 2003, 60:235-239.
9. Ancolio K, Dumanchin C, Barelli H, et al. Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 → Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. Proc Natl Acad Sci U S A, 1999, 96: 4119-4124.
10. Park H K, Na D L, Lee J H, et al. Identification of PSEN1 and APP gene mutations in Korea patients with early-onset Alzheimer's disease. J Korean Med Sci, 2008, 23: 213-217.