An Iranian family with Alzheimer's disease caused by a novel APP mutation (THr714ALa)

Neurology

Volumn 58, Issue 10, 2002, Pages 1574-1575

  Pasalar, P ^a   Najmabadi, H ^a   Noorian, A R ^a   Moghimi, B ^a   Jannati, A ^a   Soltanzadeh, A ^a   Krefft, T ^a   Crook, R ^a   Hardy, John ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; GENE PRODUCT;

ADULT; ALZHEIMER DISEASE; AMNESIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DNA SEQUENCE; ETHNOLOGY; EXON; FAMILY; FEMALE; GENE MUTATION; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0037188380     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.10.1574     Document Type: Article

References (6)

1. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
2. Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val→Ile mutation in the amyloid precursor protein gene
3. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of Aβ42(43)
4. Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated abeta(42) in Alzheimer's disease
5. Presenilin mutations line up along transmembrane alpha-helices
6. Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease