A decade of pre-diagnostic assessment in a case of familial Alzheimer's disease: tracking progression from asymptomatic to MCI and dementia

Detailed study of the very earliest phases of Alzheimer's disease (AD) is seldom possible, especially those changes preceding the development of mild cognitive impairment (MCI), which may occur years before diagnosis. Knowledge of imaging and neuropsychological features of these early stages would add insight into this poorly understood phase of the disease. We present data from a subject who entered a longitudinal study of individuals at risk of familial Alzheimer's disease (FAD), as a healthy volunteer with no memory complaints, undergoing 12 assessments between 1992 and 2003. Longitudinal MRI, neuropsychological and clinical data are presented over the decade preceding this man's diagnosis, through the asymptomatic and prodromal preludes to his presentation with MCI and on to eventual conversion to AD. We thank TOP and his wife for participating in this study, and the assistants of the neuropsychology department of the National Hospital of Neurology and Neurosurgery who performed the neuropsychology assessments and assisted in data collation, including Ms Susanna Cole. Mutation analysis was performed by Professor John Collinge and Mr John Beck of the MRC Prion Unit, Institute of Neurology. Funding was provided by an MRC programme grant, number G9626876. NCF holds an MRC senior clinical scientist fellowship.