Early-onset Alzheimer's disease with a de novo mutation in the presenilin 1 gene

Experimental Neurology

Volumn 208, Issue 2, 2007, Pages 264-268

  Golan, M P ^a   Styczynska M ^a   Jozwiak K ^b   Walecki, J ^a   Maruszak, A ^a   Pniewski, J ^c   Lugiewicz R ^c   Filipek, S ^b   Zekanowski, C ^a   Barcikowska, M ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

^c CENTRAL CLINICAL HOSPITAL OF THE MINISTRY OF INTERIOR   (Poland)

Author keywords

Biomodeling; De novo mutation; Familial Alzheimer's disease; Presenilin 1 mutations

Indexed keywords

DONEPEZIL; GAMMA SECRETASE; LEVODOPA; PRESENILIN 1;

ADULT; ALZHEIMER DISEASE; AMNESIA; ARTICLE; BRAIN ATROPHY; BRAIN CORTEX; BRAIN FUNCTION; CASE REPORT; CLINICAL FEATURE; COMPUTER MODEL; DEMENTIA; DISEASE COURSE; ELECTROENCEPHALOGRAM; FAMILIAL DISEASE; FEMALE; FRONTAL CORTEX; GENE MUTATION; HETEROZYGOTE; HIPPOCAMPUS; HUMAN; MEMBRANE STRUCTURE; MICROSATELLITE MARKER; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; PARKINSONISM; PATERNITY; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; PSYCHOLOGIC TEST; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; TEMPORAL CORTEX;

ADULT; ALZHEIMER DISEASE; BRAIN; DISEASE PROGRESSION; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MODELS, MOLECULAR; MUTATION; PHENYLALANINE; PRESENILIN-1; SERINE; TIME FACTORS;

EID: 36048971705     PISSN: 00144886     EISSN: 10902430     Source Type: Journal    
DOI: 10.1016/j.expneurol.2007.08.016     Document Type: Article

References (23)

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database (2007). http://www.molgen.ua.ac.be/ADMutations/
2. Beck J.A., Poulter M., Campbell T.A., Uphill J.B., Adamson G., Geddes J.F., Revesz T., Davis M.B., Wood N.W., Collinge J., and Tabrizi S.J. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Hum. Mol. Genet. 13 (2004) 1219-1224
3. Cotton R.G.H., and Scriver C.R. Proof of "disease causing" mutation. Human Mutat. 12 (1998) 1-3
4. Devi G., Fotiou A., Jyrinji D., Tycko B., DeArmand S., Rogaeva E., Song Y.Q., Medieros H., Liang Y., Orlacchio A., Williamson J., St George-Hyslop P., and Mayeux R. Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. Arch. Neurol. 57 (2000) 1454-1457
5. Dumanchin C., Camuzat A., Campion D., Verpillat P., Hannequin D., Dubois B., Saugier-Veber P., Martin C., Penet C., Charbonnier F., Agid Y., Frebourg T., and Brice A. Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. Hum. Mol. Genet. 7 (1998) 1825-1829
6. Ezquerra M., Carnero C., Blesa R., Gelpí J.L., Ballesta F., and Oliva R. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology 52 (1999) 566-570
7. Hardy J., and Crook R. Presenilin mutations line up along transmembrane alpha-helices. Neurosci. Lett. 306 (2001) 203-205
8. Janssen J.C., Hall M., Fox N.C., Harvey R.J., Beck J., Dickinson A., Campbell T., Collinge J., Lantos P.L., Cipolotti L., Stevens J.M., and Rossor M.N. Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation: a clinicopathological study. Brain 123 (2000) 894-907
9. Jozwiak K., Zekanowski C., and Filipek S. Linear patterns of Alzheimer's disease mutations along alpha-helices of presenilins as a tool for PS-1 model construction. J. Neurochem. 98 (2006) 1560-1572
10. Larner A.J., and Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the prsesnilin-1 gene. J. Neurol. 253 (2006) 139-158
11. Lleo A., Blesa R., Queralt R., Ezquerra M., Molinuevo J.L., Pena-Casanova J., Rojo A., and Oliva R. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain. Arch. Neurol. 59 (2002) 1759-1763
12. Menendez M. Pathological and clinical heterogeneity of presenilin 1 gene mutations. J. Alzheimer's Dis. 6 (2004) 475-482
13. Moehlmann T., Winkler E., Xia X., Edbauer D., Murrell J., Capell A., Kaether C., Zheng H., Ghetti B., Haass C., and Steiner H. Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 8025-8030
14. Nachman M.W., and Crowell S.L. Estimate of the mutation rate per nucleotide in humans. Genetics 156 (2001) 297-304
15. Piccini A., Zanusso G., Borghi R., Noviello C., Monaco S., Russo R., Damonte G., Armirotti A., Gelati M., Giordano R., Zambenedetti P., Russo C., Ghetti B., and Tabaton M. Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. Arch. Neurol. 64 (2007) 738-745
16. Rogaeva E.A., Fafel K.C., Song Y.Q., Medeiros H., Sato C., Liang Y., Richard E., Rogaev E.I., Frommelt P., Sadovnick A.D., Meschino W., Rockwood K., Boss M.A., Mayeux R., and St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 57 (2001) 621-625
17. Snider B.J., Norton J., Coats M.A., Chakraverty S., Hou C.E., Jervis R., Lendon C.L., Goate A.M., McKeel D.W., and Morris J.C. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch. Neurol. 62 (2005) 1821-1830
18. Szczerkowska Z., Karpinska E., Wysocka J., and Cybulska L. Northern Polish population data and forensic usefulness of 15 autosomal STR loci. Forensic Sci. Int. 144 (2004) 69-71
19. Takao M., Ghetti B., Murrell J.R., Unverzagt F.W., Giaccone G., Tagliavini F., Bugiani O., Piccardo P., Hulette C.M., Crain B.J., Farlow M.R., and Heyman A. Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. J. Neuropathol. Exp. Neurol. 60 (2001) 1137-1152
20. Takasugi N., Tomita T., Hayashi I., Tsuruoka M., Niimura M., Takahashi Y., Thinakaran G., and Iwatsubo T. The role of presenilin cofactors in the gamma-secretase complex. Nature 422 (2003) 438-441
21. Watanabe N., Tomita T., Sato C., Kitamura T., Morohashi Y., and Iwatsubo T. Pen-2 is incorporated into the {gamma}-secretase complex through binding to transmembrane domain 4 of presenilin 1. J. Biol. Chem. 280 (2005) 41967-41975
22. Zekanowski C., Styczynska M., Peplonska B., Gabryelewicz T., Religa D., Ilkowski J., Kijanowska-Haladyna B., Kotapka-Minc S., Mikkelsen S., Pfeffer A., Barczak A., Luczywek E., Wasiak B., Chodakowska-Zebrowska M., Gustaw K., Laczkowski J., Sobow T., Kuznicki J., and Barcikowska M. Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland. Exp. Neurol. 184 (2003) 991-996
23. Zekanowski C., Golan M.P., Krzysko K.A., Lipczynska-Lojkowska W., Filipek S., Kowalska A., Rossa G., Peplonska B., Styczynska M., Maruszak A., Religa D., Wender M., Kulczycki J., Barcikowska M., and Kuznicki J. Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Exp. Neurol. 200 (2006) 82-88