Abstract
The clinical, neuropsychological and neuropathological features of a patient with early-onset Alzheimer's disease as a result of the M139V presenilin-1 (PSEN-1) mutation are presented, and compared with previous reports of patients with the same mutation. Similarities, such as the age at onset and the relative preservation of naming skills, and differences, such as the significant basal ganglia, thalamic and cerebellar pathology, are noted. This clinical and pathological heterogeneity in patients with the same PSEN-1 mutation suggests phenotype modulation by genetic and/or epigenetic factors.
References
Jan 1, 1991·Acta Neuropathologica·H Braak, E Braak
Apr 1, 1991·Neurology·S S MirraL Berg
Oct 1, 1995·Nature Genetics
Jun 29, 1995·Nature·R SherringtonP H St George-Hyslop
Sep 1, 1994·Annals of Neurology·M HaltiaR Crook
Jan 13, 1996·Lancet·K BotevaJ R Gilbert
Dec 1, 1995·Human Molecular Genetics·D CampionS Tardieu
Aug 1, 1996·Annals of Neurology·R SandbrinkK Beyreuther
Oct 1, 1996·Nature Medicine·C A LemereJ C Arango
Dec 1, 1996·Annals of Neurology·M IkedaP H St George-Hyslop
Mar 12, 1997·JAMA : the Journal of the American Medical Association·F LoperaK S Kosik
Mar 1, 1997·Brain : a Journal of Neurology·N C FoxM N Rossor
Jul 1, 1997·Dementia and Geriatric Cognitive Disorders·A J Larner
Nov 5, 1997·Journal of Neuropathology and Experimental Neurology·B T Hyman, J Q Trojanowski
Jan 22, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·R J HarveyM N Rossor
Apr 17, 1998·Human Genetics·L GustafsonM Abrahamson
Apr 18, 1998·Nature Medicine·R CrookM Haltia
Aug 27, 1998·Journal of Medical Genetics·C DumanchinT Frebourg
Sep 5, 1998·European Archives of Psychiatry and Clinical Neuroscience·M HüllJ Bauer
Sep 1, 1999·Brain : a Journal of Neurology·T Gómez-IslaB T Hyman
Jan 13, 2000·American Journal of Human Genetics·U FinckhA Gal
Jan 25, 2000·Journal of Neurology, Neurosurgery, and Psychiatry·M YasudaC Tanaka
Feb 24, 2001·Annals of Neurology·M J SmithW S Brooks
Mar 27, 2001·Journal of Neurology·E K WarringtonM N Rossor
May 31, 2001·Journal of Neuropathology and Experimental Neurology·A VerkkoniemiM Haltia
Jun 19, 2001·Archives of Neurology·J C JanssenM N Rossor
Citations
Nov 4, 2005·Journal of Neurology·A J Larner, M Doran
Mar 10, 2010·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Hee-Jin KimSeung Hyun Kim
Aug 9, 2011·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Barbara BorroniAlessandro Padovani
Feb 13, 2007·Brain : a Journal of Neurology·Giovanni B FrisoniPaul M Thompson
Nov 19, 2010·Brain : a Journal of Neurology·William D KnightMartin N Rossor
Mar 17, 2007·International Journal of Clinical Practice·A J Larner
May 31, 2006·Dementia and Geriatric Cognitive Disorders·D A Lozsadi, A J Larner
Jul 15, 2015·Neuroscience and Biobehavioral Reviews·Shuting ZhangMing Liu
Aug 17, 2005·Clinical Neurology and Neurosurgery·Andrew J Larner
Sep 20, 2016·British Journal of Hospital Medicine·Catrin Cox, Andrew J Larner
Feb 22, 2018·Neuro-degenerative Diseases·Hannes O TiedtAndreas Lueschow
Jul 25, 2015·Movement Disorders Clinical Practice·Eloisa NavarroSantiago Giménez-Roldán
Apr 9, 2019·Journal of Alzheimer's Disease : JAD·Qiongqiong QiuJianping Jia
Dec 21, 2004·International Journal of Clinical Practice·A J Larner
Aug 10, 2021·Journal of Alzheimer's Disease : JAD·Hang-Rai KimHee Jin Kim
Aug 25, 2021·Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists·Manuel FuentesOliver Peters