P2‐032: An unusual, APPV717G‐associated familial Alzheimer's disease phenotype: Neuropsychological and radiological data

Résumé fourni par la source

Pure, progressive amnesia with preservation of other intellectual abilities has previously been reported in association with the ‘London' mutation in the amyloid precursor protein gene (APP). However, the majority of pathogenic APP mutations are associated with a clinical picture much like that seen in sporadic Alzheimer's disease (SAD). We report longitudinal neuropsychology and neuroimaging data in a 59 year-old subject from a family affected by familial, autosomal dominant Alzheimer's disease (FAD). The subject has an unusual clinical phenotype characterized by an isolated, slowly progressive, pure amnestic syndrome spanning 14 years. Early-onset dementia in his family is associated with a V717G mutation in APP. Regional atrophy with a clear predilection for the hippocampi is demonstrated over a prolonged period of 13 years. At 2.54%, mean annual hippocampal atrophy rate was intermediate between values previously associated with cognitively normal individuals and those with SAD, but approximately ten times the corresponding value for whole brain atrophy (0.23%). Neuropsychology data (Recognition memory tests for Words and Faces) demonstrated a decline in memory function contrasting with a striking preservation of other intellectual abilities (verbal and performance IQ scores derived from WAIS-R). This pattern was not noted in two other affected members from the same generation of the family whose psychology data is offered for comparison. This report adds to existing evidence that FAD mutations may be associated with unusual clinical and radiological phenotypes and, more specifically, that mutations in APP may be associated with a pure, progressive amnestic syndrome.

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