A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Nature Medicine
R CrookM Haltia

Abstract

We describe a novel variant of Alzheimer's disease (AD) in a Finnish pedigree with 17 affected individuals of both sexes in three generations. The disease is characterized by progressive dementia which is, in most cases, preceded by spastic paraparesis. Neuropathological investigations revealed numerous, distinct, large, round and eosinophilic plaques as well as neurofibrillary tangles and amyloid angiopathy throughout the cerebral cortex. The predominant plaques resembled cotton wool balls and were immunoreactive for Abeta but lacked a congophilic dense core or marked plaque-related neuritic pathology. Molecular genetic analysis revealed that the disease was caused by a deletion of exon 9 (delta9) of the presenilin 1 (PS1) gene from the mRNA: unlike previous examples of the delta9 variant, the deletion was not caused by a splice acceptor site mutation.

References

Jul 1, 1991·Brain Pathology·A ProbstJ Ulrich
Dec 15, 1986·Biochemical and Biophysical Research Communications·E M CastañoB Frangione
Feb 27, 1995·American Journal of Medical Genetics·M MullanP Lantos
Dec 10, 1996·Proceedings of the National Academy of Sciences of the United States of America·D LevitanI Greenwald
Apr 1, 1997·Journal of Neuropathology and Experimental Neurology·D W Dickson
Apr 1, 1997·Trends in Neurosciences·J Hardy
Jan 1, 1997·Human Molecular Genetics·M Hutton, J Hardy
Mar 4, 1998·Annals of Neurology·N D MehtaM Hutton

❮ Previous
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Citations

Feb 24, 2001·Annals of Neurology·M J SmithW S Brooks
Oct 23, 2002·Journal of Neuroscience Research·Takako NiikuraIkuo Nishimoto
Oct 23, 2002·Journal of Neuroscience Research·Takeshi TabiraMakoto Shibuya
Nov 19, 2008·Acta Neuropathologica·Adele WoodhouseJames C Vickers
Mar 24, 2009·Acta Neuropathologica·Claire ShepherdGlenda Margaret Halliday
Apr 22, 2009·Acta Neuropathologica·Charles DuyckaertsMarie-Claude Potier
May 14, 2011·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Orso Bugiani
Mar 20, 2002·Current Neurology and Neuroscience Reports·C JanusD Westaway
Mar 25, 2004·Current Psychiatry Reports·Pau Pastor, Alison M Goate
Feb 5, 2004·Journal of the Neurological Sciences·Auli VerkkoniemiMatti Haltia
Jan 31, 2004·Neurobiology of Disease·Claire E ShepherdGlenda M Halliday
Oct 9, 2001·Mechanisms of Ageing and Development·S SorbiB Nacmias
Feb 12, 2000·Progress in Neurobiology·C CzechL Pradier
Mar 14, 2000·Neuroscience Letters·S SongH Takahashi
Jun 6, 2003·Brain Research Bulletin·A RocchiL Murri
May 7, 1999·Brain Research Bulletin·B S Shastry, F J Giblin
Apr 18, 1998·Nature Medicine·B A Yankner
Jul 14, 1998·Nature Medicine·C GeulaB A Yankner
Apr 24, 1999·Neuropathology and Applied Neurobiology·E Storey, R Cappai
May 20, 2003·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A J Larner, D G du Plessis
Dec 17, 2008·Neurocase·Terri Edwards-LeeFrederick S Mishkin
Aug 28, 1999·Genetic Testing·S L TobinL M McConnell
Aug 31, 2002·Nucleic Acids Research·Qiang XuChristopher Lee
Sep 18, 2002·Nucleic Acids Research·Angela GalloLiam P Keegan
Apr 26, 2002·Neuroreport·Geneviève EvinJanetta G Culvenor
May 9, 2002·Neuroreport·Geneviève EvinJanetta G Culvenor
Jun 27, 2008·Alzheimer Disease and Associated Disorders·Leslie A RudzinskiNeill R Graff-Radford
Dec 2, 2009·Alzheimer Disease and Associated Disorders·William D KnightMartin N Rossor
Jul 4, 2001·Genome Research·G K HuY Wang
Jul 25, 2007·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Antony E ShrimptonRichard L Davis
Oct 8, 2004·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A Jimenez-EscrigL Orensanz
Jun 28, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·W D KnightC Mummery
Feb 3, 1999·Annual Review of Genetics·D L PriceS S Sisodia
Jan 4, 2003·The Journal of Clinical Investigation·Todd E Golde
Jul 23, 2013·Translational Neurodegeneration·Shuting ZhangWeihong Song
Jun 29, 2007·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Orly LazarovSangram S Sisodia

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