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Volumn 544, Issue , 2013, Pages 115-118

Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease

Author keywords

Early onset Alzheimer's disease; Familial Alzheimer's disease; Frontotemporal dementia; Presenilin; PSEN1 mutation

Indexed keywords

AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; CITALOPRAM; DONEPEZIL; LEUCINE; PRESENILIN 1; TAU PROTEIN;

EID: 84878379947     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2013.03.056     Document Type: Article
Times cited : (8)

References (33)
  • 2
  • 5
    • 0037431082 scopus 로고    scopus 로고
    • Aph-1, Pen-2, and nicastrin with presenilin generate an active gamma-Secretase complex
    • De Strooper B. Aph-1, Pen-2, and nicastrin with presenilin generate an active gamma-Secretase complex. Neuron 2003, 38:9-12.
    • (2003) Neuron , vol.38 , pp. 9-12
    • De Strooper, B.1
  • 8
    • 0033010135 scopus 로고    scopus 로고
    • A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures
    • Ezquerra M., Carnero C., Blesa R., Gelpi J.L., Ballesta F., Oliva R. A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. Neurology 1999, 52:566-570.
    • (1999) Neurology , vol.52 , pp. 566-570
    • Ezquerra, M.1    Carnero, C.2    Blesa, R.3    Gelpi, J.L.4    Ballesta, F.5    Oliva, R.6
  • 9
    • 0034041861 scopus 로고    scopus 로고
    • A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease
    • Ezquerra M., Carnero C., Blesa R., Oliva R. A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease. Arch. Neurol. 2000, 57:485-488.
    • (2000) Arch. Neurol. , vol.57 , pp. 485-488
    • Ezquerra, M.1    Carnero, C.2    Blesa, R.3    Oliva, R.4
  • 11
    • 70449518439 scopus 로고    scopus 로고
    • A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease
    • Guo J., Wei J., Liao S., Wang L., Jiang H., Tang B. A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease. Neurosci. Lett. 2010, 468:34-37.
    • (2010) Neurosci. Lett. , vol.468 , pp. 34-37
    • Guo, J.1    Wei, J.2    Liao, S.3    Wang, L.4    Jiang, H.5    Tang, B.6
  • 13
    • 1342284214 scopus 로고    scopus 로고
    • DemTect: a new, sensitive cognitive screening test to support the diagnosis of mild cognitive impairment and early dementia
    • Kalbe E., Kessler J., Calabrese P., Smith R., Passmore A.P., Brand M., Bullock R. DemTect: a new, sensitive cognitive screening test to support the diagnosis of mild cognitive impairment and early dementia. Int. J. Geriatr. Psychiatry 2004, 19:136-143.
    • (2004) Int. J. Geriatr. Psychiatry , vol.19 , pp. 136-143
    • Kalbe, E.1    Kessler, J.2    Calabrese, P.3    Smith, R.4    Passmore, A.P.5    Brand, M.6    Bullock, R.7
  • 15
    • 34347363135 scopus 로고    scopus 로고
    • A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease
    • Knight W.D., Kennedy J., Mead S., Rossor M.N., Beck J., Collinge J., Mummery C. A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease. Eur. J. Neurol. 2007, 14:829-831.
    • (2007) Eur. J. Neurol. , vol.14 , pp. 829-831
    • Knight, W.D.1    Kennedy, J.2    Mead, S.3    Rossor, M.N.4    Beck, J.5    Collinge, J.6    Mummery, C.7
  • 16
    • 79955374942 scopus 로고    scopus 로고
    • Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes
    • Langheinrich T.C., Romanowski C.A., Wharton S., Hadjivassiliou M. Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes. Neurology 2011, 76:1435-1436.
    • (2011) Neurology , vol.76 , pp. 1435-1436
    • Langheinrich, T.C.1    Romanowski, C.A.2    Wharton, S.3    Hadjivassiliou, M.4
  • 17
    • 32844465332 scopus 로고    scopus 로고
    • Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene
    • Larner A.J., Doran M. Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene. J. Neurol. 2006, 253:139-158.
    • (2006) J. Neurol. , vol.253 , pp. 139-158
    • Larner, A.J.1    Doran, M.2
  • 18
    • 67849085401 scopus 로고    scopus 로고
    • Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update
    • 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.
    • (2009) J. Alzheimers Dis. , vol.17 , pp. 259-265
    • Larner, A.J.1    Doran, M.2
  • 19
    • 0038293423 scopus 로고    scopus 로고
    • Early-onset Alzheimer's disease with presenilin-1 M139 V mutation: clinical, neuropsychological and neuropathological study
    • Larner A.J., du Plessis D.G. Early-onset Alzheimer's disease with presenilin-1 M139 V mutation: clinical, neuropsychological and neuropathological study. Eur. J. Neurol. 2003, 10:319-323.
    • (2003) Eur. J. Neurol. , vol.10 , pp. 319-323
    • Larner, A.J.1    du Plessis, D.G.2
  • 21
    • 33747878592 scopus 로고    scopus 로고
    • Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations
    • Mendez M.F., McMurtray A. Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am. J. Alzheimers Dis. Other Demen. 2006, 21:281-286.
    • (2006) Am. J. Alzheimers Dis. Other Demen. , vol.21 , pp. 281-286
    • Mendez, M.F.1    McMurtray, A.2
  • 25
    • 78650185596 scopus 로고    scopus 로고
    • Nazi action T4 euthanasia programme: historical research, individual life stories and the culture of remembrance
    • Rotzoll M., Fuchs P., Richter P., Hohendorf G. Nazi action T4 euthanasia programme: historical research, individual life stories and the culture of remembrance. Nervenarzt 2010, 81:1326-1332.
    • (2010) Nervenarzt , vol.81 , pp. 1326-1332
    • Rotzoll, M.1    Fuchs, P.2    Richter, P.3    Hohendorf, G.4
  • 26
    • 84867525450 scopus 로고    scopus 로고
    • Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation
    • Sepulveda-Falla D., Glatzel M., Lopera F. Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation. J. Alzheimers Dis. 2012, 32:1-12.
    • (2012) J. Alzheimers Dis. , vol.32 , pp. 1-12
    • Sepulveda-Falla, D.1    Glatzel, M.2    Lopera, F.3
  • 32
    • 0023833603 scopus 로고
    • The NINCDS-ADRDA Work Group criteria for the clinical diagnosis of probable Alzheimer's disease: a clinicopathologic study of 57 cases
    • Tierney M.C., Fisher R.H., Lewis A.J., Zorzitto M.L., Snow W.G., Reid D.W., Nieuwstraten P. The NINCDS-ADRDA Work Group criteria for the clinical diagnosis of probable Alzheimer's disease: a clinicopathologic study of 57 cases. Neurology 1988, 38:359-364.
    • (1988) Neurology , vol.38 , pp. 359-364
    • Tierney, M.C.1    Fisher, R.H.2    Lewis, A.J.3    Zorzitto, M.L.4    Snow, W.G.5    Reid, D.W.6    Nieuwstraten, P.7
  • 33
    • 63649118865 scopus 로고    scopus 로고
    • Structure and function of gamma-secretase
    • Tolia A., De Strooper B. Structure and function of gamma-secretase. Semin. Cell Dev. Biol. 2009, 20:211-218.
    • (2009) Semin. Cell Dev. Biol. , vol.20 , pp. 211-218
    • Tolia, A.1    De Strooper, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.