A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease

Neuroscience Letters

Volumn 566, Issue , 2014, Pages 115-119

  Luedecke, Daniel ^a   Becktepe, Jos S ^a   Lehmbeck, Jan T ^a   Finckh, Ulrich ^b   Yamamoto, Raina ^b   Jahn, Holger ^a   Boelmans, Kai ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b MVZ Labor Dr Eberhard and Partner   (Germany)

Author keywords

Cosegregation analysis; Early onset Alzheimer disease; Missense mutation; Presenilin 1

Indexed keywords

ALANINE; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; BIOLOGICAL MARKER; PARAFFIN; PRESENILIN 1; PRESENILIN 2; TAU PROTEIN; VALINE;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CASE REPORT; CEREBROSPINAL FLUID; CODON; DEMENTIA; DNA SEQUENCE; EXON; FAMILIAL DISEASE; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; MENTAL DETERIORATION; MIDDLE AGED; MISSENSE MUTATION; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SHORT TERM MEMORY;

COSEGREGATION ANALYSIS; EARLY-ONSET ALZHEIMER DISEASE; MISSENSE MUTATION; PRESENILIN 1;

AGE OF ONSET; ALZHEIMER DISEASE; BRAIN; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PRESENILIN-1;

EID: 84896134067     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2014.02.034     Document Type: Article

References (37)

1. Thies W., Bleiler L. 2013 Alzheimer's disease facts and figures. Alzheimers Dement. 2013, 9:208-245.
2. Wu L., Rosa-Neto P., Hsiung G.Y., Sadovnick A.D., Masellis M., Black S.E., Jia J., Gauthier S. Early-onset familial Alzheimer's disease (EOFAD). Can. J. Neurol. Sci. 2012, 39:436-445.
3. Tanzi R.E. The genetics of Alzheimer disease. Cold Spring Harb. Perspect. Med. 2012, 2.
4. Tanzi R.E., Bertram L. New frontiers in Alzheimer's disease genetics. Neuron 2001, 32:181-184.
5. Raux G., Guyant-Marechal L., Martin C., Bou J., Penet C., Brice A., Hannequin D., Frebourg T., Campion D. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J. Med. Genet. 2005, 42:793-795.
6. Cruts M., Theuns J., Van Broeckhoven C. Locus-specific mutation databases for neurodegenerative brain diseases. Hum. Mutat. 2012, 33:1340-1344.
7. Wanngren J., Franberg J., Svensson A.I., Laudon H., Olsson F., Winblad B., Liu F., Naslund J., Lundkvist J., Karlstrom H. The large hydrophilic loop of presenilin 1 is important for regulating gamma-secretase complex assembly and dictating the amyloid beta peptide (Abeta) Profile without affecting Notch processing. J. Biol. Chem. 2010, 285:8527-8536.
8. De Strooper B., Iwatsubo T., Wolfe M.S. Presenilins and gamma-secretase: structure, function, and role in Alzheimer Disease. Cold Spring Harb. Perspect. Med. 2012, 2:a006304.
9. Hass M.R., Sato C., Kopan R., Zhao G. Presenilin: RIP and beyond. Semin. Cell Dev. Biol. 2009, 20:201-210.
10. Larner A.J., Doran M. Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update. J. Alzheimers Dis. 2009, 17:259-265.
11. Bateman R.J., Aisen P.S., De Strooper B., Fox N.C., Lemere C.A., Ringman J.M., Salloway S., Sperling R.A., Windisch M., Xiong C. Autosomal-dominant Alzheimer's disease: a review and proposal for the prevention of Alzheimer's disease. Alzheimers Res. Ther. 2011, 3:1.
12. Pillai J.A., Cummings J.L. Clinical trials in predementia stages of Alzheimer disease. Med. Clin. N. Am. 2013, 97:439-457.
13. Muhlau M., Wohlschlager A.M., Gaser C., Valet M., Weindl A., Nunnemann S., Peinemann A., Etgen T., Ilg R. Voxel-based morphometry in individual patients: a pilot study in early Huntington disease. Am. J. Neuroradiol. 2009, 30:539-543.
14. Arlt S., Buchert R., Spies L., Eichenlaub M., Lehmbeck J.T., Jahn H. Association between fully automated MRI-based volumetry of different brain regions and neuropsychological test performance in patients with amnestic mild cognitive impairment and Alzheimer's disease. Eur. Arch. Psychiatry Clin. Neurosci. 2013, 263:335-344.
15. Morris J.C., Heyman A., Mohs R.C., Hughes J.P., van Belle G., Fillenbaum G., Mellits E.D., Clark C. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part I. Clinical and neuropsychological assessment of Alzheimer's disease. Neurology 1989, 39:1159-1165.
16. Härting C., Markowitsch H.-J., Neufeld H., Calabrese P., Deisinger K., Kessler J. Wechsler Memory Scale - Revised Edition, German Edition. Manual 2000, Huber, Bern.
17. Yesavage J.A. Geriatric Depression Scale. Psychopharmacol. Bull. 1988, 24:709-711.
18. Karas G., Scheltens P., Rombouts S., van Schijndel R., Klein M., Jones B., van der Flier W., Vrenken H., Barkhof F. Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study. Neuroradiology 2007, 49:967-976.
19. Frisoni G.B., Pievani M., Testa C., Sabattoli F., Bresciani L., Bonetti M., Beltramello A., Hayashi K.M., Toga A.W., Thompson P.M. The topography of gray matter involvement in early and late onset Alzheimer's disease. Brain 2007, 130:720-730.
20. Zhang S., Zhang M., Cai F., Song W. Biological function of Presenilin and its role in AD pathogenesis. Transl. Neurodegener. 2013, 2:15.
21. Spasic D., Tolia A., Dillen K., Baert V., De Strooper B., Vrijens S., Annaert W. Presenilin-1 maintains a nine-transmembrane topology throughout the secretory pathway. J. Biol. Chem. 2006, 281:26569-26577.
22. Podlisny M.B., Citron M., Amarante P., Sherrington R., Xia W., Zhang J., Diehl T., Levesque G., Fraser P., Haass C., Koo E.H., Seubert P., St George-Hyslop P., Teplow D.B., Selkoe D.J. Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue. Neurobiol. Dis. 1997, 3:325-337.
23. Soriano S., Kang D.E., Fu M., Pestell R., Chevallier N., Zheng H., Koo E.H. Presenilin 1 negatively regulates beta-catenin/T cell factor/lymphoid enhancer factor-1 signaling independently of beta-amyloid precursor protein and notch processing. J. Cell Biol. 2001, 152:785-794.
24. Teo J.L., Ma H., Nguyen C., Lam C., Kahn M. Specific inhibition of CBP/beta-catenin interaction rescues defects in neuronal differentiation caused by a presenilin-1 mutation. Proc. Natl. Acad. Sci. U.S.A. 2005, 102:12171-12176.
25. Nishimura M., Yu G., Levesque G., Zhang D.M., Ruel L., Chen F., Milman P., Holmes E., Liang Y., Kawarai T., Jo E., Supala A., Rogaeva E., Xu D.M., Janus C., Levesque L., Bi Q., Duthie M., Rozmahel R., Mattila K., Lannfelt L., Westaway D., Mount H.T., Woodgett J., St George-Hyslop P. Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nat. Med. 1999, 5:164-169.
26. Kwok J.B., Halliday G.M., Brooks W.S., Dolios G., Laudon H., Murayama O., Hallupp M., Badenhop R.F., Vickers J., Wang R., Naslund J., Takashima A., Gandy S.E., Schofield P.R. Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. J. Biol. Chem. 2003, 278:6748-6754.
27. Jimenez-Escrig A., Rabano A., Guerrero C., Simon J., Barquero M.S., Guell I., Ginestal R.C., Montero T., Orensanz L. New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. Eur. J. Neurol. 2004, 11:663-669.
28. Kamimura K., Tanahashi H., Yamanaka H., Takahashi K., Asada T., Tabira T. Familial Alzheimer's disease genes in Japanese. J. Neurol. Sci. 1998, 160:76-81.
29. 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., St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 2001, 57:621-625.
30. Migliaccio R., Agosta F., Rascovsky K., Karydas A., Bonasera S., Rabinovici G.D., Miller B.L., Gorno-Tempini M.L. Clinical syndromes associated with posterior atrophy: early age at onset AD spectrum. Neurology 2009, 73:1571-1578.
31. Migliaccio R., Agosta F., Possin K.L., Rabinovici G.D., Miller B.L., Gorno-Tempini M.L. White matter atrophy in Alzheimer's disease variants. Alzheimers Dement. 2012, 8:S78-S87. e71-72.
32. Ridgway G.R., Lehmann M., Barnes J., Rohrer J.D., Warren J.D., Crutch S.J., Fox N.C. Early-onset Alzheimer disease clinical variants: multivariate analyses of cortical thickness. Neurology 2012, 79:80-84.
33. Scarpazza C., Sartori G., De Simone M.S., Mechelli A. When the single matters more than the group: very high false positive rates in single case Voxel Based Morphometry. Neuroimage 2013, 70:175-188.
34. Poirier J., Davignon J., Bouthillier D., Kogan S., Bertrand P., Gauthier S. Apolipoprotein E polymorphism and Alzheimer's disease. Lancet 1993, 342:697-699.
35. Van Broeckhoven C., Backhovens H., Cruts M., Martin J.J., Crook R., Houlden H., Hardy J. APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci. Lett. 1994, 169:179-180.
36. Davidson Y., Gibbons L., Pritchard A., Hardicre J., Wren J., Stopford C., Julien C., Thompson J., Payton A., Pickering-Brown S.M., Pendleton N., Horan M.A., Burns A., Purandare N., Lendon C.L., Neary D., Snowden J.S., Mann D.M., Apolipoprotein E. epsilon4 allele frequency and age at onset of Alzheimer's disease. Dement. Geriatr. Cogn. Disord. 2007, 23:60-66.
37. Guerreiro R.J., Baquero M., Blesa R., Boada M., Bras J.M., Bullido M.J., Calado A., Crook R., Ferreira C., Frank A., Gomez-Isla T., Hernandez I., Lleo A., Machado A., Martinez-Lage P., Masdeu J., Molina-Porcel L., Molinuevo J.L., Pastor P., Perez-Tur J., Relvas R., Oliveira C.R., Ribeiro M.H., Rogaeva E., Sa A., Samaranch L., Sanchez-Valle R., Santana I., Tarraga L., Valdivieso F., Singleton A., Hardy J., Clarimon J. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol. Aging 2010, 31:725-731.