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RESEARCH PRODUCT
Pure Progressive Amnesia and the APPV717G Mutation
Nick C. FoxWilliam D. KnightJessica JacksonLisa CipolottiR. Laila AhsanElizabeth K. WarringtonMartin N. Rossorsubject
AdultMaleAgingPathologymedicine.medical_specialtyGlycineAmnesiaHippocampusAmyloid beta-Protein PrecursorAtrophyAlzheimer DiseasemedicineHumansDementiaMemory disorderEpisodic memoryAgedSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaCognitive disorderValineMiddle Agedmedicine.diseaseAPPV717G mutation.PedigreePsychiatry and Mental healthClinical PsychologyPhenotypeMutationDisease ProgressionPure progressive amnesiaFemaleAmnesiaAtrophyGeriatrics and Gerontologymedicine.symptomAlzheimer's diseasePsychologyGerontologyFrontotemporal dementiadescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2009-01-01 |