The genetics of very early onset Alzheimer disease

Cognitive and Behavioral Neurology

Volumn 20, Issue 3, 2007, Pages 149-156

  Filley, Christopher M ^a,b,d   Rollins, Yvonne D ^a   Alan Anderson, C ^a,b   Arciniegas, David B ^a,b   Howard, Katherine L ^a   Murrell, Jill R ^c   Boyer, Philip J ^a   Kleinschmidt DeMasters, Belte K ^a   Ghetti, Bernardino ^c  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF COLORADO   (United States)

Author keywords

Dementia; Genetic testing; Presenilin 1; Very early onset Alzheimer disease

Indexed keywords

AMYLOID PRECURSOR PROTEIN; DONEPEZIL; PRESENILIN 1; PRESENILIN 2;

ADULT; AGITATION; ALZHEIMER DISEASE; AMNESIA; APHASIA; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 14; CLINICAL FEATURE; DYSARTHRIA; ELECTROENCEPHALOGRAPHY; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; INTRON; MALE; MINI MENTAL STATE EXAMINATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PERSONALITY DISORDER; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PSYCHOSOCIAL WITHDRAWAL; SIDE EFFECT; SYMPTOM; VERY EARLY ONSET ALZHEIMER DISEASE;

ADULT; ALZHEIMER DISEASE; ATROPHY; BRAIN; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 21; FATAL OUTCOME; HUMANS; INTRONS; MALE; NEUROFIBRILLARY TANGLES; NEUROPSYCHOLOGICAL TESTS; POINT MUTATION; POLYMORPHISM, GENETIC; PRESENILIN-1; PRESENILIN-2;

EID: 36649035723     PISSN: 15433633     EISSN: None     Source Type: Journal    
DOI: 10.1097/WNN.0b013e318145a8c8     Document Type: Article

References (84)

1. Folstein MF, Folstein SE, McHugh PR. "Mini-Mental State:" a practical method for grading the cognitive state of patients for the clinician. J Psychiat Res. 1975;12:189-198.
2. Nichols WC, Gregg RE, Brewer HB Jr, et al. A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics. 1990;8:318-323.
3. Takao M, Ghetti B, Hayakawa I, et al. A novel mutation (G217D) in the Presenilin 1 gene (PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum. Acta Neuropathol (Berl). 2002;104:155-170.
4. Murrell JR, Hake AM, Quaid KA, et al. Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. Arch Neurol. 2000;57:885-887.
5. 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 the Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology. 1984;34:939-944.
6. Cruts M, Rademakers R. Alzheimer disease and frontotemporal dementia mutation database [database online]. Available at: http://www.molgen.ua.ac.be/ ADMutations/. Accessed April 1, 2007.
7. Alzheimer Research Forum [database online]. John Hardy, Bethesda, MD: National Institute on Aging. Updated January 12, 2007.
8. Mirra SS, Heyman A, McKeel D, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathological assessment of Alzheimer's disease. Neurology. 1991;41:479-486.
9. Braak H, Braak E. Neuropathological staging of Alzheimer-related changes. Acta Neuropathol. 1991;82:239-259.
10. Working Group. Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. The National Institute on Aging, and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's disease. Neurobiol Aging. 1997;18(suppl 4):S1-S2.
11. Fukutani Y, Nakamura I, Kobayashi K, et al. An autopsy case of familial juvenile Alzheimer's disease with extensive involvement of the subcortical gray and white matters. Acta Neuropathol. 1989;77:329-332.
12. Wragg M, Hutton M, Talbot C. Genetic association between intronic polymorphism in presenilin 1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group. Lancet. 1996;347:509-512.
13. Sodeyama N, Itoh Y, Suematsu N, et al. Presenilin 1 intronic polymorphism is not associated with Alzheimer type neuropathological changes or sporadic Alzheimer's disease. J Neurol Neurosurg Psychiatry. 1998;64:548-551.
14. Lowenberg K, Waggoner R. Familial organic psychosis (Alzheimer's type). Arch Neurol Psychiatry. 1934;31:737-754.
15. Murrell JR, Miravalle L, Foster NL, et al. Early-onset familial Alzheimer's disease (AD) from the first American report: a presenilin-1 (PS1) mutation found in descendants. J Neuropathol Exp Neurol. 2001;60:543.
16. Ferraro A, Jervis GA. Alzheimer's disease. Psychiatr Q. 1941;15:3-16.
17. Matsuoka T, Miyoshi K, Saka K, et al. A case of encephalopathy with plaque-like bodies, neurofibrillary change, angiopathy and amyotrophic lateral sclerosis-like lesions. Adv Neurol Sci (Tokyo). 1967;11:801-811.
18. Mizushima S, Yamada H. Early onset Alzheimer's disease? A case of encephalopathy mainly presenting senile plaque-like lesions. Adv Neurol Sci (Tokyo). 1974;18:206-207.
19. Sharman MG, Watt DC, Janota I, et al. Alzheimer's disease in a mother and identical twin sons. Psychol Med. 1979;9:771-774.
20. Bird TD, Sumi SM, Nemens EJ, et al. Phenotypic heterogeneity in familial Alzheimer's disease: a study of 24 kindreds. Ann Neurol. 1989;25:12-25.
21. Schellenberg GD, Bird TD, Wijsman EM, et al. Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science. 1992;258:668-671.
22. Lampe TH, Bird TD, Nochlin D, et al. Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol. 1994;36:368-378.
23. Poorkaj P, Sharma V, Anderson L, et al. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum Mutat. 1998;11:216-221.
24. Martin JJ, Gheuens J, Bruyland M, et al. Early-onset Alzheimer's disease in 2 large Belgian families. Neurology. 1991;41:62-68.
25. Cruts M, Backhovens H, Wang SY, et al. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3. Hum Mol Genet. 1995;4:2363-2371.
26. Haltia M, Viitanen M, Sulkava R, et al. Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description. Ann Neurol. 1994;36:362-367.
27. Mangone CA, Castano EM, Levy E, et al. Early onset Alzheimer's disease in a South American pedigree from Argentina. Acta Neurol Scand. 1995;91:6-13.
28. Morelli L, Prat MI, Levy E, et al. Presenilin 1 Met146Leu variant due to an A→T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina. Clin Genet. 1998;53:469-473.
29. Campion D, Brice A, Dumanachin C, et al. A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years. Neuroreport. 1996;7:1582-1584.
30. Tanahashi H, Kawakatsu S, Kaneko M, et al. Sequence analysis of presenilin 1 gene mutation in Japanese Alzheimer's disease patients. Neurosci Lett. 1996;218:139-141.
31. Kwok JB, Taddei K, Hallupp M, et al. Two novel (M233T and R278T) presenilin 1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin 1 mutations with a novel phenotype. Neuroreport. 1997;8:1537-1542.
32. Besançon R, Lorenzi A, Cruts M, et al. Missense mutation in exon 11 (codon 378) of the presenilin 1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Hum Mutat. 1998;11:481.
33. Taddei K, Kwok JBJ, Kril JJ, et al. Two novel presenilin 1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease. Neuroreport. 1998;9:3335-3339.
34. Wisniewski T, Dowjat WK, Buxbaum JD, et al. A novel Polish presenilin 1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years. Neuroreport. 1998;9:217-221.
35. Campion D, Dumanchin C, Hannequin D, et al. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. Am J Hum Genet. 1999;65:664-670.
36. Ezquerra M, Carnero C, Blesa R, et al. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology. 1999;52:566-570.
37. Devi G, Fotiou A, Jyrinji D, et al. Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. Arch Neurol. 2000;57:1454-1457.
38. Ezquerra M, Carnero C, Blesa R, et al. A novel presenilin 1 mutation Leu166Arg) associated with early-onset Alzheimer disease. Arch Neurol. 2000;57:485-488.
39. Finckh U, Müller-Thomsen T, Mann U, et al. High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. Am J Hum Genet. 2000;66:110-117.
40. Janssen JC, Hall M, Fox NC, et al. Alzheimer's disease due to an intronic presenilin 1 (PSEN1 intron 4) mutation: a clinicopathological study. Brain. 2000;123:894-907.
41. Raux G, Gantier R, Martin C, et al. A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease. Hum Mutat. 2000;16:95.
42. Arango D, Cruts M, Torres O, et al. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid β precursor protein and presenilin genes in Colombia. Am J Med Gen. 2001;103:138-143.
43. Kulczycki J, Bertrand E, Lojkowska W, et al. Familial Alzheimer's disease connected with mutation in presenilin gene 1 (P117L). Neurol Neurochir Pol. 2001;35:213-224.
44. Sodeyama N, Iwata T, Ishikawa K, et al. Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile). J Neurol Neurosurg Psychiatry. 2001;71:556-557.
45. Takao M, Ghetti B, Murrell JR, et al. 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. 2001;60:1137-1152.
46. Goldman JS, Reed B, Gearhart R, et al. Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation. Int J Geriatr Psychiatry. 2002;17:649-651.
47. Janssen JC, Beck JA, Campbell TA, et al. Early onset familial Alzheimer's disease. Mutation frequency in 31 families. Neurology. 2003;60:235-239.
48. Kowalska A, Wender M, Florczak J, et al. Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region. J Appl Genet. 2003;44:231-234.
49. Miklossy J, Taddei K, Suva D, et al. Two novel presenilin 1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease. Neurobiol Aging. 2003;24:655-662.
50. Portet F, Dauvilliers Y, Campion D, et al. Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu). Neurology. 2003;61:1137-1163.
51. Źekanowski C, Styczyńska M, Peplońska B, et al. Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland. Exp Neurol. 2003;184:991-996.
52. Ataka S, Tomiyama T, Takuma H, et al. A novel presenilin 1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. Arch Neurol. 2004;61:1773-1776.
53. Beck JA, Poulter M, Campbell TA, et al. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Hum Mol Genet. 2004;13:1219-1224.
54. Dowjat WK, Kuchna I, Wisniewski T, et al. A novel highly pathogenic Alzheimer presenilin 1 mutation in codon 117 (Pro117-Ser): comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations. J Alzheimers Dis. 2004;6:31-43.
55. Hanisch F, Kölmel W. Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin 1 mutations at codon 139. Eur J Med Res. 2004;9:361-364.
56. Jimenez-Escrig A, Rabano A, Guerrero C, et al. New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism. Eur J Neurol. 2004;11:663-669.
57. Kowalska A, Pruchnik-Wolińska D, Florczak J, et al. Genetic study of familial cases of Alzheimer's disease. Acta Biochim Pol. 2004;51:245-252.
58. Mehrabian S, Traykov L, Rademakers R, et al. A novel PSEN1 mutation in an EOAD family with spastic paraparesis and extrapyramidal signs. Eur J Neurol. 2004;11(suppl 2):16.
59. Moretti P, Lieberman AP, Wilde EA, et al. Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. Neurology. 2004;62:1865-1868.
60. Finckh U, Kuschel C, Anagnostouli M, et al. Novel mutations and repeated findings of mutations in familial Alzheimer disease. Neurogenetics. 2005;6:85-89.
61. Pantieri R, Pardini M, Cecconi M, et al. A novel presenilin1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease. Neurol Sci. 2005;26:349-350.
62. Raux G, Guyant-Maréchal L, Martin C, et al. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update. J Med Genet. 2005;42:793-795.
63. Snider BJ, Norton J, Coats MA, et al. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life. Arch Neurol. 2005;62:1821-1830.
64. Piccini A, Zannusso G, Borghi R, et al. Association of a presenilin 1 S170F mutation with a novel Alzheimer disease phenotype. Arch Neurol. 2007;64:738-745.
65. 42 production. Proc Natl Acad Sci USA. 2002;88:8025-8030.
66. Boyer PJ, Murrell JS, Piccardo P, et al. Early onset ataxia, spasticity, and dementia are key findings in novel L166P presenilin 1 mutation (In preparation).
67. Rogaeva EA, Fafel KC, Song YQ, et al. Screening for PSEN1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001;57:621-625.
68. 42 in Alzheimer's disease. Hum Mol Genet. 2000;9:2589-2598.
69. Edwards-Lee T, Ringman JM, Chung J, et al. An African-American family with early-onset Alzheimer disease and an APP (T714I) mutation. Neurology. 2005;64:377-379.
70. Sampson EL, Warren JD, Rossor MN. Young onset dementia. Postgrad Med J. 2004;80:125-139.
71. Lleó A, Blesa R, Queralt R, et al. Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer Disease in Spain. Arch Neurol. 2002;59:1759-1763.
72. Cruts M, van Broeckhoven C. Molecular genetics of Alzheimer's disease. Ann Med. 1998;30:560-565.
73. Bertram L, Tanzi R. The current status of Alzheimer's disease genetics: what do we tell the patients? Pharmacol Res. 2004;50:385-396.
74. Bigio EH, Hynan LS, Sontag E, et al. Synapse loss is greater in presenile than senile onset Alzheimer disease: implications for the cognitive reserve hypothesis. Neuropathol Appl Neurobiol. 2002;28:218-227.
75. Steiner H, Revesz T, Neumann M, et al. A pathogenic presenilin 1 deletion causes aberrant Abeta 42 production in the absence of congophilic amyloid plaques. J Biol Chem. 2001;276:7233-7239.
76. Shepherd CE, Gregory GC, Vickers JC, et al. Positional effects of presenilin 1 mutations on tau phosphorylation in cortical plaques. Neurobiol Dis. 2004;15:115-119.
77. Miravalle L, Calero M, Takao M, et al. Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques. Biochemistry. 2005;44:10810-10821.
78. Malamud W, Lowenberg K. Alzheimer's disease. Arch Neurol Psychiatr. 1929;21:805-827.
79. Jervis GA, Soltz SE. Alzheimer's disease-the so-called juvenile type. Am J Psychiatry. 1936;93:39-56.
80. Rascovsky K, Salmon DP, Lipton AM, et al. Rate of progression differs in frontotemporal dementia and Alzheimer disease. Neurology. 2005;65:397-403.
81. Mendez MF, MaMurtry A. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am J Alzheimer's Dis Other Demen. 2006;21:281-286.
82. Źekanowski C, Golan MP, Krzyśko A, et al. Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment. Exp Neurol. 2006;200:82-88.
83. Filley CM, Kelly J, Heaton RK. Neuropsychologic features of early- and late-onset Alzheimer's disease. Arch Neurol. 1986;43:574-576.
84. Williamson J, LaRusse S. Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease. Curr Neurol Neurosci Rep. 2004;4:351-357.