A novel mutation (V89l)in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances

Journal of Neurology Neurosurgery and Psychiatry

Volumn 72, Issue 2, 2002, Pages 266-269

  Queralt, R ^a   Ezquerra, M ^a   Lieo A ^a   Castellvi M ^a   Gelpi J ^d   Ferrer, I ^a   Acarin N ^b   Pasarin L ^c   Blesa, R ^a   Oliva, R ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c Del Mar University   (Spain)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; DNA HELIX; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; PATHOGENESIS; PRIORITY JOURNAL;

ALZHEIMER DISEASE; BRAIN; CHROMOSOMES, HUMAN, PAIR 14; DNA MUTATIONAL ANALYSIS; EXONS; FOLLOW-UP STUDIES; HUMANS; MALE; MEMBRANE PROTEINS; MENTAL DISORDERS; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PRESENILIN-1;

EID: 0036155190     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.72.2.266     Document Type: Article

References (16)

1. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
2. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
3. Candidate gene for the chromosome 1 familial Alzheimmer's disease locus
4. Familial Alzheimer's disease in kindreds with missence mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
5. The molecular and genetic basis of AD: The end of the beginning: The 2000 Wartenberg lecture
6. Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA-work group under the auspices of Department of Health and Human Services, Task Force
7. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer's disease
8. High apolipoprotein E epsilon 4 allele frequency in age-related memory decline
9. The proteins data bank: A computer-based archival file for macromolecular structures
10. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures
11. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
12. Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families
13. A pathogenic presenilin-1 deletion causes abberrant A-beta-42 production in the absence of congophilic amyloid plaques
14. Presenilin mutations in a Colombian familial and sporadic AD sample
15. Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation
16. Presenilin mutations line up along transmembrane α-helices