Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type

Science
E LevyB Frangione

Abstract

An amyloid protein that precipitates in the cerebral vessel walls of Dutch patients with hereditary cerebral hemorrhage with amyloidosis is similar to the amyloid protein in vessel walls and senile plaques in brains of patients with Alzheimer's disease, Down syndrome, and sporadic cerebral amyloid angiopathy. Cloning and sequencing of the two exons that encode the amyloid protein from two patients with this amyloidosis revealed a cytosine-to-guanine transversion, a mutation that caused a single amino acid substitution (glutamine instead of glutamic acid) at position 22 of the amyloid protein. The mutation may account for the deposition of this amyloid protein in the cerebral vessel walls of these patients, leading to cerebral hemorrhages and premature death.

References

Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·F SangerA R Coulson
Aug 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·M R PalmertS G Younkin
Jun 1, 1989·The New England Journal of Medicine·B RumbleC L Masters
Jan 25, 1989·Nucleic Acids Research·H G LemaireB Müller-Hill
Feb 20, 1987·Science·P H St George-HyslopD Drachman
Dec 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·C W WongG G Glenner
Jun 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·N K RobakisH M Wisniewski
Jun 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·C L MastersK Beyreuther
Aug 1, 1988·Journal of Neurochemistry·F PrelliB Frangione
Aug 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·S G van DuinenB Frangione
May 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·J GhisoB Frangione
Jan 1, 1972·Brain : a Journal of Neurology·G GudmundssonO Bjarnason
Aug 16, 1984·Biochemical and Biophysical Research Communications·G G Glenner, C W Wong
May 16, 1984·Biochemical and Biophysical Research Communications·G G Glenner, C W Wong
Aug 1, 1982·Journal of the Neurological Sciences·A R WattendorffL J Endtz

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Citations

Aug 11, 2000·Microscopy Research and Technique·E Van UdenE Masliah
Nov 1, 1991·Annals of Neurology·I Fernandez-MadridB Frangione
Oct 1, 1993·Annals of Neurology·T WisniewskiB Frangione
Dec 1, 1993·Annals of Neurology·J B Martin
May 1, 1994·Annals of Neurology·L S HigginsB Cordell
Sep 1, 1994·Annals of Neurology·T D Bird
Dec 1, 1996·Annals of Neurology·E Levy-Lahad, T D Bird
May 1, 1997·Annals of Neurology·M J AlbertsA D Roses
Jul 1, 1997·Annals of Neurology·M BornebroekC Van Broeckhoven
Nov 1, 1992·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·F Crawford, A Goate
Oct 1, 1992·Journal of Neuroscience Research·K SambamurtiN K Robakis
Nov 1, 1992·Journal of Neurobiology·D L PriceL C Cork
Nov 1, 1992·Journal of Neurobiology·M Driscoll
Mar 1, 1997·Protein Science : a Publication of the Protein Society·T G Fletcher, D A Keire
Jun 29, 2001·Journal of Peptide Science : an Official Publication of the European Peptide Society·A B ClippingdaleC J Barrow
Nov 1, 1993·Mammalian Genome : Official Journal of the International Mammalian Genome Society·K RookeA M Goate
Mar 1, 1994·Metabolic Brain Disease·A LeBlanc
Jan 1, 1994·Journal of Neural Transmission. Parkinson's Disease and Dementia Section·O HeinonenP J Riekkinen
Feb 1, 1994·Molecular Neurobiology·J GhisoB Frangione
Aug 1, 1994·Molecular Neurobiology·M Mullan, F Crawford
Jan 1, 1992·Journal of Molecular Neuroscience : MN·C A MarottaB Tate
Jan 1, 1992·Molecular Neurobiology·T Wisniewski, B Frangione
Nov 10, 2009·Cellular and Molecular Life Sciences : CMLS·A RostagnoJorge Ghiso
Feb 4, 2009·Cellular and Molecular Life Sciences : CMLS·R J S VianaC M P Rodrigues
Jan 13, 2005·Acta Neuropathologica·Khalid Iqbal, Inge Grundke-Iqbal
Feb 3, 2009·Acta Neuropathologica·Khalid IqbalInge Grundke-Iqbal
Apr 22, 2009·Acta Neuropathologica·Charles DuyckaertsMarie-Claude Potier
Sep 21, 2013·Acta Neuropathologica·Patrick L McGeer, Edith G McGeer
Dec 17, 2009·Brain Structure & Function·Thomas Wisniewski, Allal Boutajangout
Oct 12, 2010·Journal of Neural Transmission·Brandon K HarveyMikko Airavaara
Sep 10, 2011·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Luciana Malavolta, Clóvis R Nakaie
Oct 31, 2006·Behavior Genetics·Jason L Eriksen, Christopher G Janus

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