De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases

Journal of Medical Genetics

Volumn 35, Issue 8, 1998, Pages 672-673

  Dumanchin, Cécile ^a,b   Brice, Alexis ^c   Campion, Dominique ^d   Hannequin, Didier ^a   Martin, Cosette ^a   Moreau, Viviane ^a   Agid, Yves ^c   Martinez, Maria ^e   Clerget Darpoux, Françoise ^c   Frebourg, Thierry ^a,b  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b IFRMP 23   (France)

^c INSERM   (France)

^d UNIVERSITÉ DE ROUEN   (France)

^e SAINT LOUIS HOSPITAL   (France)

Author keywords

Alzheimer's disease; Mutations; Presenilin 1; Sporadic cases

Indexed keywords

LYSINE; METHIONINE; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14; CLINICAL ARTICLE; CODON; FEMALE; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR GENE; MALE; MISSENSE MUTATION; ONSET AGE; OPEN READING FRAME; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PRESENILIN-1;

EID: 17344363967     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Goate A, Chartier-Harlin MC, Mullan M, et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991:349:704-6.
2. Sherrington R, Rogaev EI, Liang Y, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995;375:754-60.
3. Rogaev EI, Sherrington R, Rogaeva EA, et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995;376:775-8.
4. Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 1995;269:973-7.
5. Takano T, Sahara N, Yamanouchi Y, et al. Assignment of Alzheimer's presenilin-2 (PS-2) gene to 1q42.1 by in situ hybridization. Neurosci Lett 1997;221:205-7.
6. Tanzi RE, Kovacs DM, Kim TW, et al. The gene defects responsible for familial Alzheimer's disease. Neurobiol Dis 1996;3:159-68.
7. Perez-Tur J, Froelich S, Prihar G, et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. NeuroRepon 1995;7:297-301.
8. Campion D, Flaman JM, Brice A, et al. Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease. Hum Mol Genet 1996;4:2373-7.
9. Campion D, Brice A, Dumanchin C, et al. A novel presenilin 1 mutation resulting in a familial Alzheimer disease with an onset age of 29 years. NeuroReport 1996;7:1582-4.
10. McKhann G, Drachman D, Folstein M, et al. 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 on Alzheimer's disease. Neurology 1984;34:939-44.
11. Wenham PR, Price WH, Blundell G. Apolipoprotein E genotyping by one-stage PCR. Lancet 1991;337:1158-9.
12. Rossor MN, Fox NC, Beck J, et al. Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin 1 gene mutation. Lancet 1996;347:1560.
13. Tanahashi H, Kawakatsu S, Kaneto M, et al. Sequence analysis of presenilin 1 gene mutation in Japanese Alzheimer's disease patients. Neurosci Lett 1996;218:139-41.
14. Sandbrink R, Zhang D, Schaeffer S, et al. Missense mutations of the PS1/S182 gene in German early-onset Alzheimer's disease. Ann Neurol 1996;40:265-6.