title: Pure progressive amnesia and the APPV717G mutation.
abstract: We report an isolated, slowly progressive, pure amnestic phenotype in a 59-year-old member of a family affected by autosomal dominant familial Alzheimer disease. Early-onset Alzheimer disease in this family was associated with a V717G mutation in the amyloid precursor protein gene (APP). Subjective impairment of episodic memory began in our subject at the age of 44 years and subsequent, longitudinal neuropsychologic assessment confirmed progressive, severe, global impairment of memory functions over a period of 14 years with preservation of other cognitive domains. The mean annual hippocampal atrophy rate, determined by volumetric magnetic resonance imaging was intermediate between values previously associated with cognitively normal individuals and those with sporadic Alzheimer disease.
authors: Department of Neurodegenerative Diseases, Dementia Research Centre, Institute of Neurology, University College London, UK. knight@dementia.ion.ucl.ac.uk
authors: William D
authors: WD
authors: Knight
authors: R Laila
authors: RL
authors: Ahsan
authors: Jessica
authors: J
authors: Jackson
authors: Lisa
authors: L
authors: Cipolotti
authors: Elizabeth K
authors: EK
authors: Warrington
authors: Nick C
authors: NC
authors: Fox
authors: Martin N
authors: MN
authors: Rossor
mesh_terms: D000328:Adult; D000368:Aged; D000375:Aging / Q000235:genetics / Q000523:psychology; D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology; D000647:Amnesia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001284:Atrophy; D018450:Disease Progression; D005260:Female; D005998:Glycine / Q000235:genetics; D006624:Hippocampus / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014633:Valine / Q000235:genetics
chemical_list: D016564:Amyloid beta-Protein Precursor; D014633:Valine; D005998:Glycine