Familial Creutzfeldt-Jakob disease: A neuropsychological case study

The spectrum of neuropsychological features of familial Creutxfeldt-Jakob d isease (CJD) have seldom been reported, possibly because of(a) the rarity o f this hereditary form of prion disease; (b) frequent delays in diagnosis, and (c) the typically rapid demise of the patient, which affords little opp ortunity for comprehensive testing or serial analysis. Here we describe the neurobehavioral characteristics of a 48-year-old right handed male(JD) who presented with complaints of poor depth perception, unsteady gait, and unu sual sensory experiences in his 5-month illness. Immediately following hosp ital admission, he underwent a neuropsychological evaluation that revealed moderated to severe impairment of delayed (30-minute) verbal memory, tactua l performance in his right hand, and word-finding ability. In contrast, oth er abilities that are commonly classified within the verbal, visuospatial, and memory domains showed minimal or no compromise. Parallel studies of ele ctroencephalographic activity revealed diffuse slowing and, later 1-Hz rhyt hmical discharges over the left hemisphere, and mild prominence of the late ral ventricles and cerebral sulci on magnetic resonance imaging. Autopsy re vealed spongiform changes and reactive astrocytosis and genetic testing dem onstrated a codon 200 mutation in the prion protein gene. These findings in dicate CJD can result in clinical manifestations compatible with multifocal asymmetric cerebral involvement before more diffuse neurodegeneration ensu es, providing a strong impetus for the study of additional cases. This long -term understanding can help to determine whether the multiple loci of clin ical involvement are specified by genetic or epigenetic factors, or both. ( C) 2000 National Academy of Neuropsychology. Published by Elsevier Science Ltd.