title: The earliest cognitive change in a person with familial Alzheimer's disease: presymptomatic neuropsychological features in a pedigree with familial Alzheimer's disease confirmed at necropsy.
abstract: Comprehensive, longitudinal neuropsychological assessments are reported in a person "at risk" from autosomal dominant, necropsy confirmed familial Alzheimer's disease. The first assessment showed a moderately selective verbal memory deficit in the context of mild general intellectual impairment. Subsequent testing showed the progressive deterioration of visual memory and a mild decline of perceptual and spatial skills. Language and literacy skills, however, remained comparatively intact. The neuropsychological profiles obtained at each assessment are presented in profile maps. These permit direct longitudinal comparison of cognitive function, and may serve in the comparison of different potential cases of familial Alzheimer's disease. This case sought medical attention for memory difficulties 26 months after the first neuropsychological assessment. These results mark the first cognitive manifestations in a pedigree with familial Alzheimer's disease which, in this case, were seen presymptomatically. The findings are discussed in relation to neuropsychological studies of affected cases, and in terms of their reflecting the heterogeneous nature of familial Alzheimer's disease.
authors.affiliation: National Hospital for Neurology, London, UK.
authors.forename: S K
authors.initials: SK
authors.lastname: Newman
authors.forename: E K
authors.initials: EK
authors.lastname: Warrington
authors.forename: A M
authors.initials: AM
authors.lastname: Kennedy
authors.forename: M N
authors.initials: MN
authors.lastname: Rossor
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000150:complications* / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D001344:Autopsy; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D009483:Neuropsychological Tests; D010375:Pedigree; D012307:Risk Factors; D013997:Time Factors