A FAMILY WITH AUTOSOMAL-DOMINANT, NON-ALZHEIMERS PRESENILE-DEMENTIA

Objective: A rare family pedigree is described with a multigenerationa l 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: Previ ous work on the family was collated and verified. The pedigree was upd ated. Thirty-three family members agreed to be interviewed for the pre sent study. Standardised clinical information was obtained using the C ambridge Mental Disorders of the Elderly Examination (CAMDEX) National Adult Reading Test (NART), vocabulary and digit substitution subscale s of the Wechster adult intelligence scale - revised edition (WARS-R). Abbot samples were taken for biochemical and genetic analysis. Result s: Fifteen males and 11 females have been affected, The age of onset o f 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 f rom 4 to 14 years and the age at death ranged from 49 to 69 years (mea n 62 years). Autopsy data exist for nine cases. In one case the neurop athology was consistent with Alzheimer's disease. In two cases the dia gnosis of Pick's disease was made on the basis of frontal or frontal/t emporal lobe atrophy without Pick bodies or cells, One case diagnosed as Pick's disease had frontal/temporal lobe atrophy with cells resembl ing Pick's bodies. In the five remaining cases there were no distincti ve neuropathological features to differentiate the type of dementia. C onclusions: The importance of recognising familiar dementia, collating information on multiple generations and prospectively collecting stan dardised data is discussed.