Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
A J Larner, D G du Plessis

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.

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Citations

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
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
Aug 17, 2005·Clinical Neurology and Neurosurgery·Andrew J Larner
Sep 20, 2016·British Journal of Hospital Medicine·Catrin Cox, Andrew J Larner
Jul 25, 2015·Movement Disorders Clinical Practice·Eloisa NavarroSantiago Giménez-Roldán
Dec 21, 2004·International Journal of Clinical Practice·A J Larner
Aug 25, 2021·Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists·Manuel FuentesOliver Peters

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