Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 9, 2009, Pages 1050-1052

  Kasuga, K ^a   Shimohata, T ^a   Nishimura, A ^b   Shiga, A ^a   Mizuguchi, T ^b   Tokunaga, J ^a   Ohno, T ^c   Miyashita, A ^a   Kuwano, R ^a   Matsumoto, N ^b   Onodera, O ^a   Nishizawa, M ^a   Ikeuchi, T ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c Nagaoka Chuo General Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E; DNA; MESSENGER RNA; TAU PROTEIN;

ADULT; ALZHEIMER DISEASE; ARTICLE; BRAIN HEMORRHAGE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE DUPLICATION; GENE IDENTIFICATION; GENE LOCUS; HUMAN; JAPANESE; MEMORY DISORDER; MICROARRAY ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ATROPHY; BLOOD; BRAIN; CASE REPORT; CEREBROSPINAL FLUID; COHORT ANALYSIS; GENE DOSAGE; GENETICS; JAPAN; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOLOGY; PEDIGREE;

AGE OF ONSET; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; APOLIPOPROTEINS E; ATROPHY; BRAIN; COHORT STUDIES; DNA; FEMALE; GENE DOSAGE; GENE DUPLICATION; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; RNA, MESSENGER; TAU PROTEINS;

EID: 69449108391     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2008.161703     Document Type: Article

References (15)

1. Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006;38:24-26 (Pubitemid 43011878)
2. Cabrejo L, Guyant-Maréchal L, Laquerrière A, et al. Phenotype associated with APP duplication in five families. Brain 2006;129:2966-2976 (Pubitemid 44684517)
3. Sleegers K, Brouwers N, Gijselinck I, et al. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain 2006;129:2977-2983 (Pubitemid 44684518)
4. Remes AM, Finnilä S, Mononen H, et al. Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy. Neurology 2004;63:234-240 (Pubitemid 38971120)
5. Rovelet-Lecrux A, Frebourg T, Tuominen H, et al. APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage. J Neurol Neurosurg Psychiat 2007;78:1158.
6. Remes A, Laru L, Tuominen H, et al. Carbon 11-labeled Pittsburgh compound B positron emission tomographic amyloid imaging in patients with APP locus duplication. Arch Neurol 2008;65:540-544 (Pubitemid 351549966)
7. Wisniewski KE, Dalton AJ, Crapper-McLachlan DR, et al. Alzheimer's disease in Down syndrome. Neurology 1985;35:957-961
8. McKhann G, Drachman D, Folstein M. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA. Neurology 1984;34:265-266
9. Ikeuchi T, Kaneko H, Miyashita A, et al. Mutational analysis in early-onset familial dementia in Japanese population: role of PSEN1 and MAPT R406W mutations. Dement Geriatr Cogn Disord 2008;26:43-49
10. Ikeuchi T, Kakita A, Shiga A, et al. Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Arch Neurol 2008;65:514-519 (Pubitemid 351549961)
11. Miyake N, Shimokawa O, Harada N, et al. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A 2006;140:205-211 (Pubitemid 43190929)
12. Rainen L, Oelmueller U, Jurgensen S, et al. Stabilization of mRNA expression in whole blood samples. Clin Chem 2002;48:1883-1890 (Pubitemid 35222745)
13. Blom ES, Viswanathan J, Kilander L, et al. Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease. Eur J Hum Genet 2008;16:171-175
14. Shaw CJ, Lupski JR. Implication of human genomic architecture for rearrangementbased disorders: the genomic basis of disease. Hum Mol Genet 2004;13:R57-64.
15. Oyama F, Cairns N, Shimada H, et al. Down's syndrome: up-regulation of β-amyloid protein precursor and t mRNAs and their defective coordination. J Neurochem 1994:62:1062-1066 (Pubitemid 24064519)