The APOE gene locus in frontotemporal dementia and primary progressive aphasia

Archives of Neurology

Volumn 68, Issue 5, 2011, Pages 622-628

  Seripa, Davide ^a   Bizzarro, Alessandra ^b   Panza, Francesco ^a   Acciarri, Adele ^b   Pellegrini, Fabio ^a,c   Pilotto, Alberto ^a   Masullo, Carlo ^b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c Catholic University School of Medicine ^*  (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E;

ADULT; AGED; APOE GENE; ARTICLE; CONTROLLED STUDY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE FREQUENCY; GENE FUNCTION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; NEUROPATHOLOGY; PRIMARY PROGRESSIVE APHASIA; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; AGED, 80 AND OVER; APHASIA, PRIMARY PROGRESSIVE; APOLIPOPROTEINS E; CASE-CONTROL STUDIES; CONFIDENCE INTERVALS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; ITALY; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 79955783097     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.90     Document Type: Article

References (37)

1. Ratnavalli E, Brayne C, Dawson K, Hodges JR. The prevalence of frontotemporal dementia. Neurology. 2002;58(11):1615-1621. (Pubitemid 34602891)
2. Ikeda M, Ishikawa T, Tanabe H. Epidemiology of frontotemporal lobar degeneration. Dement Geriatr Cogn Disord. 2004;17(4):265-268. (Pubitemid 38721138)
3. Tolnay M, Probst A. Frontotemporal lobar degeneration - tau as a pied piper? Neurogenetics. 2002;4(2):63-75.
4. Neary D, Snowden J, Mann D. Frontotemporal dementia. Lancet Neurol. 2005;4(11):771-780. (Pubitemid 41457293)
5. Mesulam MM. Primary progressive aphasia. Ann Neurol. 2001;49(4):425-432. (Pubitemid 32281326)
6. Gustafson L, Abrahamson M, Grubb A, Nilsson K, Fex G. Apolipoprotein-E geno-typing in Alzheimer's disease and frontotemporal dementia. Dement Geriatr Cogn Disord. 1997;8(4):240-243. (Pubitemid 27243709)
7. Stevens M, van Duijn CM, de Knijff P, et al. Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology. 1997;48(6):1526-1529.
8. Pickering-Brown SM, Siddons M, Mann DM, Owen F, Neary D, Snowden JS. Apolipoprotein E allelic frequencies in patients with lobar atrophy. Neurosci Lett. 1995;188(3):205-207.
9. Geschwind D, Karrim J, Nelson SF, Miller B. The apolipoprotein E ε4 allele is not a significant risk factor for frontotemporal dementia. Ann Neurol. 1998;44(1):134-138. (Pubitemid 28323665)
10. Masullo C, Daniele A, Fazio VM, et al. The apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy. Neurosci Lett. 2001;303(2):87-90. (Pubitemid 32320011)
11. Mesulam MM, Johnson N, Grujic Z, Weintraub S. Apolipoprotein E genotypes in primary progressive aphasia. Neurology. 1997;49(1):51-55. (Pubitemid 27328681)
12. Lehmann DJ, Smith AD, Combrinck M, Barnetson L, Joachim C. Apolipoprotein E ε2 may be a risk factor for sporadic frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2000;69(3):404-405. (Pubitemid 30636252)
13. Verpillat P, Camuzat A, Hannequin D, et al. Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis. Eur J Hum Genet. 2002;10(7):399-405.
14. Minthon L, Hesse C, Sjögren M, Englund E, Gustafson L, Blennow K. The apolipoprotein E ε4 allele frequency is normal in fronto-temporal dementia, but correlates with age at onset of disease. Neurosci Lett. 1997;226(1):65-67. (Pubitemid 27190406)
15. Acciarri A, Masullo C, Bizzarro A, et al. Apoe ε2-ε4 genotype is a possible risk factor for primary progressive aphasia. Ann Neurol. 2006;59(2):436-437. (Pubitemid 43202511)
16. Daniele A, Matera MG, Seripa D, et al. APOE ε2/ε4 genotype a risk factor for primary progressive aphasia in women. Arch Neurol. 2009;66(7):910-912.
17. STROBE Initiative. Strengthening the Reporting of Observational Studies in Epidemiology. http://www.strobe-statement.org/. Published 2009. Accessed February 28, 2011.
18. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. 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(7):939-944.
19. Román GC, Tatemichi TK, Erkinjuntti T, et al. Vascular dementia: diagnostic criteria for research studies: report of the NINDS-AIREN International Workshop. Neurology. 1993;43(2):250-260. (Pubitemid 23060253)
20. Hachinski VC, Iliff LD, Zilhka E, et al. Cerebral blood flow in dementia. Arch Neurol. 1975;32(9):632-637.
21. McKeith IG, Dickson DW, Lowe J, et al; Consortium on DLB. Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology. 2005;65(12):1863-1872.
22. McKhann GM, Albert MS, Grossman M, et al; Work Group on Frontotemporal Dementia and Pick's Disease. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol. 2001;58(11):1803-1809.
23. Caltagirone C, Gainotti G, Masullo C, Miceli G. Validity of some neuropsychological tests in the assessment of mental deterioration. Acta Psychiatr Scand. 1979;60(1):50-56. (Pubitemid 9209062)
24. Folstein MF, Folstein SE, McHugh PR. "Mini-Mental State": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12(3):189-198.
25. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a Frontal Assessment Battery at bedside. Neurology. 2000;55(11):1621-1626.
26. Capasso R, Miceli G. Esame Neuropsicologico per l'Afasia (E.N.P.A.). Milan: Springer-Verlag Italia; 2001.
27. Cummings JL, Mega M, Gray K, Rosenberg-Thompson S, Carusi DA, Gornbein J. The Neuropsychiatric Inventory: comprehensive assessment of psychopathology in dementia. Neurology. 1994;44(12):2308-2314. (Pubitemid 24382728)
28. Bizzarro A, Seripa D, Acciarri A, et al. The complex interaction between APOE promoter and AD: an Italian case-control study. Eur J Hum Genet. 2009;17 (7):938-945.
29. Hughes CP, Berg L, Danziger WL, Coben LA, Martin RL. A new clinical scale for the staging of dementia. Br J Psychiatry. 1982;140:566-572. (Pubitemid 12124384)
30. Morris JC. The Clinical Dementia Rating (CDR): current version and scoring rules. Neurology. 1993;43(11):2412-2414. (Pubitemid 23346995)
31. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215. doi:10.1093/nar/16.3.1215.
32. Seripa D, Signori E, Gravina C, Matera MG, Rinaldi M, Fazio VM. Simple and effective determination of apolipoprotein E genotypes by positive/negative polymerase chain reaction products. Diagn Mol Pathol. 2006;15(3):180-185. (Pubitemid 44325481)
33. Interactive Statistical Calculation Pages. http://statpages.org/. Updated February 17, 2011. Accessed February 28, 2011.
34. The R Project for Statistical Computing. http://www.r-project.org/. Accessed February 28, 2011.
35. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21(2):263-265. (Pubitemid 40202029)
36. Comings DE, MacMurray JP. Molecular heterosis: a review. Mol Genet Metab. 2000;71(1-2):19-31.
37. Seripa D, Matera MG, Daniele A, et al. The missing ApoE allele. Ann Hum Genet. 2007;71(pt 4):496-500. (Pubitemid 46865497)