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Annals of Hematology
Published in: Annals of Hematology 8/2008

01-08-2008 | Letter to the Editor

Association between HFE 187 C>G (H63D) mutation and early-onset familial Alzheimer’s disease PSEN-1 839A>C (E280A) mutation

Authors: I. C. Avila-Gomez, M. Jiménez-Del-Rio, F. Lopera-Restrepo, C. Velez-Pardo

Published in: Annals of Hematology | Issue 8/2008

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Excerpt

Dear Editor, …
Literature
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Lopera F, Ardilla A, Martinez A, Madrigal L, Arango-Viana JC, Lemere CA, Arango-Lasprilla JC, Hincapie L, Arcos-Burgos M, Ossa JE, Behrens IM, Norton J, Lendon C, Goate AM, Ruiz-Linares A, Rosselli M, Kosik KS (1997) Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 277:793–799PubMedCrossRef
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Smith MA, Harris PL, Sayre LM, Perry G (1997) Iron accumulation in Alzheimer disease is a source of redox-generated free radicals. Proc Natl Acad Sci U S A 94:9866–9868PubMedCrossRef
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Connor JR, Milward EA, Moalem S, Sampietro M, Boyer P, Percy ME, Vergani C, Scott RJ, Chorney M (2001) Is hemochromatosis a risk factor for Alzheimer’s disease? J Alzheimer’s Dis 3:471–477
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Sampietro M, Caputo L, Casatta A, Meregalli M, Pellagatti A, Tagliabue J, Annoni G, Vergani C (2001) The hemochromatosis gene affects the age of onset of sporadic Alzheimer’s disease. Neurobiol Aging 22:563–568PubMedCrossRef
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Candore G, Licastro F, Chiappelli M, Franceschi C, Lio D, Balistreri RC, Piazza G, Colonna-Romano G, Grimaldi LM, Caruso C (2003) Association between the HFE mutations and unsuccessful ageing: a study in Alzheimer’s disease patients from Northern Italy. Mech Ageing Dev 124:525–528PubMedCrossRef
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Berlin D, Chong G, Chertkow H, Bergman H, Phillips NA, Schipper HM (2004) Evaluation of HFE (hemochromatosis) mutations as genetic modifiers in sporadic AD and MCI. Neurobiol Aging 25:465–474PubMedCrossRef
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Guerreiro RJ, Bras JM, Santana I, Januario C, Santiago B, Morgadinho AS, Ribeiro MH, Hardy J, Singleton A, Oliveira C (2006) Association of HFE common mutations with Parkinson’s disease, Alzheimer’s disease and mild cognitive impairment in a Portuguese cohort. BMC Neurol 6:24PubMedCrossRef
Metadata
Title
Association between HFE 187 C>G (H63D) mutation and early-onset familial Alzheimer’s disease PSEN-1 839A>C (E280A) mutation
Authors
I. C. Avila-Gomez
M. Jiménez-Del-Rio
F. Lopera-Restrepo
C. Velez-Pardo
Publication date
01-08-2008
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 8/2008
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-008-0467-y

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