Pure progressive amnesia and the APPV717G mutation.
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.
Knight
William D
WD
Department of Neurodegenerative Diseases, Dementia Research Centre, Institute of Neurology, University College London, UK. knight@dementia.ion.ucl.ac.uk
Ahsan
R Laila
RL
Jackson
Jessica
J
Cipolotti
Lisa
L
Warrington
Elizabeth K
EK
Fox
Nick C
NC
Rossor
Martin N
MN
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
D016564:Amyloid beta-Protein Precursor; D014633:Valine; D005998:Glycine