A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease

Neurogenetics

Volumn 1, Issue 4, 1998, Pages 293-296

  Lao, José I ^a   Beyer, Katrin ^a   Fernández Novoa, Lucía ^a   Cacabelos, Ramón ^a  

^a Centro de Investigacion Biomedica EuroEspes   (Spain)

Author keywords

Late onset Alzheimer's disease; Missense mutation; Presenilin 2 gene; TM2 domain; TM5 domain

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; APOLIPOPROTEIN E3; MEMBRANE PROTEIN; PRESENILIN 1; PRESENILIN 2; PSEN1 PROTEIN, HUMAN; PSEN2 PROTEIN, HUMAN;

ADULT; AGED; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; GENE FREQUENCY; GENETIC SCREENING; GENETICS; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; PROTEIN TERTIARY STRUCTURE; SPAIN;

ADULT; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; AMYLOID BETA-PROTEIN PRECURSOR; APOLIPOPROTEIN E3; APOLIPOPROTEINS E; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC SCREENING; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PRESENILIN-1; PRESENILIN-2; PROTEIN STRUCTURE, TERTIARY; SPAIN;

EID: 0032129460     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050044     Document Type: Article

References (20)

1. St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, Crapper MacLachlan DR, Orr H, Bruni AC, Sorbi S, Rainero I, Foncin J-F, Pollen D, Cantu J-M, Tupler R, Voskresenskaya N, Mayeux R, Growdon J, Fried VA, Myers RH, Nee L, Backhovens H, Martin J-J, Rossor M, Owen MJ, Mullan M, Percy ME, Karlinsky H, Rich S, Heston L, Montesi M, Mortilla M, Nacmias N, Gusella JF, Hardy JA (1990) Genetic linkage study suggest that Alzheimer's disease is not a single homogeneous disorder. Nature 347:194-196
2. Murrell J, Farlow M, Ghetti B, Benson, MD (1991) A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. Science 254:97-99
3. Hardy JA, Higgins GA (1992) Alzheimer's disease: the amyloid cascade hypothesis. Science 256:184-185
4. Hendriks L, Van Duijn C, Cras P (1992) Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the b-amyloid precusor protein gene. Nat Genet 1:218-221
5. Mullan M, Crawford F, Axelmann K (1992) A pathologic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of β-amyloid. Nat Genet 1:345-347
6. Peacock ML, Murman DL, Sima AAF, Warren JT, Roses AD, Fink JK (1994) Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late-onset Alzheimer's disease. Ann Neurol 35:432-438
7. Kamino K, Orr HT, Payami H, Wijsman EM, Aloso ME, Pulst S M, Anderson L, O'Dahl S, Nemens E, White JA, Sadovnick AD, Ball MJ, Kaye J, Warren A, Mclnnis M, Antonarakis SE, Korenberg JR, Sharma V, Kukull W, Larson E, Heston LL, Martin GM, Bird TD, Schellenberg GD (1992) A linkage and mutational analysis of familial Alzheimer's disease kindreds for the APP gene region. Am J. Hum Genet 51:998-1014
8. Schellenberg GD, Pericak-Vance MA, Wijsman EM, Moore DK, Gaskell PC, Yamaoka LA, Bebout JL, Anderson L, Welsh KA, Clark CM, Martin GM, Roses AD, Bird TD (1991) Linkage analysis of familial Alzheimer's disease, using chromosome 21 markers. Am J Hum Genet 48:563-583
9. Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, Martin J-J (1992) Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24 3. Nat Genet 2:335-339
10. St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin J-F, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang J, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu J-M, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper MacLachlan D (1992) Genetic evidence for a novel familial Alzheimer's disaese locus on chromosome 14. Nat Genet 2:330-334
11. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin J -F, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky R-J, Wasco W, Da Silva H AR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375:754-760
12. Levy-Lahad E, Wijsman EM, Nemens E, Anderson I, Goddard KAB, Weber JL, Bird TD, Schellenberg GD (1995) A familial Alzheimer's disease locus on chromosome 1. Science 269:970-972
13. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Placentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St George-Hyslop PH (1995) Familial Alzheimer's disease in kindreds with missense mutation in a gene on chromosome 1 related to Alzheimer's disease type 3 gene. Nature 376:775-778
14. Tanzi RE, Kovacs DM, Kim T-W (1996) The gene defects responsible for familial Alzheimer's disease. Neurobiol Dis 3:159-168
15. Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu C, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu Y-H, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE (1995) A candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269:973-977
16. Levitan D, Greenwald I (1995) Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377:351-354
17. American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders. 4th edn. DSM-IV. American Psychiatric Association, Washington, D.C.
18. Mckhann G, Drachmann D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: Report of NINCDS-ADRDA Work Group. Neurology 34:939-944
19. Reisberg B, Ferris SH, León MJ de, Crook T (1982) The global deterioration scale for assesstment of primary degenerative dementia. Am J Psychiatry 139:1136-1139
20. Roses A (1997) A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease. Neurogenetics 1:3-11