Clinical course of patients with familial early-onset Alzheimer's disease potentially lacking senile plaques bearing the E693Δ mutation in amyloid precursor protein

Dementia and Geriatric Cognitive Disorders

Volumn 32, Issue 1, 2011, Pages 45-54

  Shimada, Hiroyuki ^a   Ataka, Suzuka ^a   Tomiyama, Takami ^a,b   Takechi, Hajime ^c   Mori, Hiroshi ^a,b   Miki, Takami ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Alzheimer's disease; Amyloid ; Clinical features; Magnetic resonance imaging; Mutation; Positron emission tomography

Indexed keywords

AMYLOID PRECURSOR PROTEIN; BIOLOGICAL MARKER; FLUORODEOXYGLUCOSE; PITTSBURGH COMPOUND B;

AKINETIC MUTISM; ALZHEIMER DISEASE; ARTICLE; BRAIN ATROPHY; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID ANALYSIS; FAMILIAL DISEASE; FEMALE; HUMAN; MEMORY DISORDER; MOTOR DYSFUNCTION; NEUROPHYSIOLOGICAL RECRUITMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SENILE PLAQUE;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; APOLIPOPROTEINS E; ATROPHY; BENZOTHIAZOLES; BRAIN; CEREBELLAR ATAXIA; COGNITION; DISEASE PROGRESSION; FEMALE; FLUORODEOXYGLUCOSE F18; GAIT DISORDERS, NEUROLOGIC; HUMANS; MAGNETIC RESONANCE IMAGING; MEMORY DISORDERS; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PLAQUE, AMYLOID; POSITRON-EMISSION TOMOGRAPHY; RADIOPHARMACEUTICALS;

EID: 80051579129     PISSN: 14208008     EISSN: 14219824     Source Type: Journal    
DOI: 10.1159/000330017     Document Type: Article

References (23)

1. Selkoe DJ: Alzheimer's disease is a synaptic failure. Science 2002;298:789-791. (Pubitemid 35231524)
2. Cleary JP, Walsh DM, Hofmeister JJ, Shankar GM, Kuskowski MA, Selkoe DJ, Ashe KH: Natural oligomers of the amyloid-beta protein specifically disrupt cognitive function. Nat Neurosci 2005;8:79-84. (Pubitemid 41236735)
3. Lesne S, Koh MT, Kotilinek L, Kayed R, Glabe CG, Yang A, Gallagher M, Ashe KH: A specific amyloid-beta protein assembly in t he brain impairs memory. Nature 2006;440:352-357.
4. Lacor PN, Buniel MC, Furlow PW, Clemente AS, Velasco PT, Wood M, Viola KL, Klein WL: Abeta oligomer-induced aberrations in synapse composition, shape, and density provide a molecular basis for loss of connectivity in Alzheimer's disease. J Neurosci 2007;27:796-807. (Pubitemid 46174498)
5. Shankar GM, Bloodgood BL, Townsend M, Walsh DM, Selkoe DJ, Sabatini BL: Natural oligomers of the Alzheimer amyloid-beta protein induce reversible synapse loss by modulating an NMDA-type glutamate receptor-dependent signaling pathway. J Neurosci 2007;27:2866-2875. (Pubitemid 46438992)
6. Nimmrich V, Ebert U: Is Alzheimer's disease a result of presynaptic failure? Synaptic dysfunctions induced by oligomeric beta-amyloid. Rev Neurosci 2009;20:1-12.
7. Tomiyama T, Nagata T, Shimada H, Teraoka R, Fukushima A, Kanemitsu H, Takuma H, Kuwano R, Imagawa M, Ataka S, Wada Y, Yoshioka E, Nishizaki T, Watanabe Y, Mori H: A new amyloid beta variant favoring oligomerization in Alzheimer's-type dementia. Ann Neurol 2008;63:377-387. (Pubitemid 351499867)
8. Lopresti BJ, Klunk WE, Mathis CA, Hoge JA, Ziolko SK, Lu X, Meltzer CC, Schimmel K, Tsopelas ND, DeKosky ST, Price JC: Simplified quantification of Pittsburgh Compound B amyloid imaging PET studies: a comparative analysis. J Nucl Med 2005;46:1959-1972. (Pubitemid 46657441)
9. Price JC, Klunk WE, Lopresti BJ, Lu X, Hoge JA, Ziolko SK, Holt DP, Meltzer CC, DeKosky ST, Mathis CA: Kinetic modeling of amyloid binding in humans using PET imaging and Pittsburgh Compound-B. J Cereb Blood Flow Metab 2005;25:1528-1547. (Pubitemid 41541962)
10. Rouleau I, Salmon DP, Butters N, Kennedy C, McGuire K: Quantitative and qualitative analyses of clock drawings in Alzheimer's and Huntington's disease. Brain Cogn 1992;18:70-87.
11. Funabiki Y, Takechi H, Akamatsu T, Kita T: Development of a short neuropsychological battery to screen early dementia in the elderly. Geriatr Gerontol Int 2003;2:179-186.
12. Lezak MD: Neuropsychological Assessment, ed 3. New York, Oxford University Press, 1995.
13. Takechi H, Dodge HH: Scenery Picture Memory Test: a new type of quick and effective screening test to detect early stage Alzheimer's disease patients. Geriatr Gerontol Int 2010;10:183-190.
14. Minoshima S, Frey KA, Koeppe RA, Foster NL, Kuhl DE: A diagnostic approach in Alzheimer's disease using three-dimensional stereotactic surface projections of fluorine-18-FDG PET. J Nucl Med 1995;36:1238-1248.
15. Vemuri P, Wiste HJ, Weigand SD, Shaw LM, Trojanowski JQ, Weiner MW, Knopman DS, Petersen RC, Jack CR Jr: MRI and CSF biomarkers in normal, MCI, and AD subjects: diagnostic discrimination and cognitive correlations. Neurology 2009;73:287-293.
16. Shoji M, Matsubara E, Murakami T, Manabe Y, Abe K, Kanai M, Ikeda M, Tomidokoro Y, Shizuka M, Watanabe M, Amari M, Ishiguro K, Kawarabayashi T, Harigaya Y, Okamoto K, Nishimura T, Nakamura Y, Takeda M, Urakami K, Adachi Y, Nakashima K, Arai H, Sasaki H, Kanemaru K, Yamanouchi H, Yoshida Y, Ichise K, Tanaka K, Hamamoto M, Yamamoto H, Matsubayashi T, Yoshida H, Toji H, Nakamura S, Hirai S: Cerebrospinal fluid tau in dementia disorders: a large scale multicenter study by a Japanese study group. Neurobiol Aging 2002;23:363-370. (Pubitemid 34312018)
17. Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T, Kawabata K, Mori H, Miki T: A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. Arch Neurol 2004;61:1773-1776. (Pubitemid 39463435)
18. Twells R, Yenchitsomanus PT, Sirinavin C, Allotey R, Poungvarin N, Viriyavejakul A, Cemal C, Weber J, Farrall M, Rodprasert P, et al: Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus. Hum Mol Genet 1994;3:177-180. (Pubitemid 24038162)
19. Oyanagi S: Hereditary dentatorubral-pallidoluysian atrophy. Neuropathology 2000;20(suppl): S42-S46.
20. Filla A, De Michele G, Cocozza S, Patrignani A, Volpe G, Castaldo I, Ruggiero G, Bonavita V, Masters C, Casari G, Bruni A: Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. Neurology 2002;58:922-928. (Pubitemid 34242069)
21. Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schols L, Riess O: Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (sca17). Ann Neurol 2003;54:367-375. (Pubitemid 37072039)
22. Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P: Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. Eur J Neurol 2010;17:124-128.
23. Tomiyama T, Matsuyama S, Iso H, Umeda T, Takuma H, Ohnishi K, Ishibashi K, Teraoka R, Sakama N, Yamashita T, Nishitsuji K, Ito K, Shimada H, Lambert MP, Klein WL, Mori H: A mouse model of amyloid beta oligomers: their contribution to synaptic alteration, abnormal tau phosphorylation, glial activation, and neuronal loss in vivo. J Neurosci 2010;30:4845-4856.