A family with autosomal dominant, non-Alzheimer's presenile dementia

Objective: A rare family pedigree is described with a multigenerational history of an early onset, non-Alzheimer's dementia consistent with autosomal dominant inheritance, Information on five generations, with 26 suspected or proven cases of dementia, are presented. Method: Previous work on the family was collated and verified. The pedigree was updated. Thirty-three family members agreed to be interviewed for the present study. Standardised clinical information was obtained using the Cambridge Mental Disorders of the Elderly Examination (CAMDEX) National Adult Reading Test (NART), vocabulary and digit substitution subscales of the Wechster adult intelligence scale - revised edition (WARS-R). Abbot samples were taken for biochemical and genetic analysis. Results: Fifteen males and 11 females have been affected, The age of onset of dementia in those for whom data were available (n=12) ranged from 39 to 64 years with a mean of 53 years. The duration of illness ranged from 4 to 14 years and the age at death ranged from 49 to 69 years (mean 62 years). Autopsy data exist for nine cases. In one case the neuropathology was consistent with Alzheimer's disease. In two cases the diagnosis of Pick's disease was made on the basis of frontal or frontal/temporal lobe atrophy without Pick bodies or cells, One case diagnosed as Pick's disease had frontal/temporal lobe atrophy with cells resembling Pick's bodies. In the five remaining cases there were no distinctive neuropathological features to differentiate the type of dementia. Conclusions: The importance of recognising familiar dementia, collating information on multiple generations and prospectively collecting standardised data is discussed.