AUTOSOMAL-DOMINANT EARLY-ONSET DEMENTIA AND LEUKOENCEPHALOPATHY IN A JAPANESE FAMILY - CLINICAL, NEUROIMAGING AND GENETIC-STUDIES

We report here the results of clinical, neuroimaging and genetic studi es of autosomal dominant dementia and leukoencephalopathy in a Japanes e family. Twenty-two individuals in this family were examined clinical ly (17 living, 5 deceased), neuroradiologically and genetically (16 of 17 living members). Ten (5 deceased) of 22 individuals had early onse t dementia (age of onset: 45.2+/-12.1 years on average) and four of th em had multiple white matter lesions and brain atrophy on brain MRI wi thout history of brain ischemic attack. Another four individuals had a bnormal white matter lesions on brain MRI without dementia. Linkage st udies for chromosome 1q31-42, 14q24.3 and 21q21 responsible for Alzhei mer's disease, chromosome 19p13.1-13.2 for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADAS IL) and chromosome 3 for familial non-specific dementia suggested no s pecific haplotypes cosegregated with the disease. Apo E genotypes were E2/2 and E2/3 in this family. Clinical, neuroimaging and genetic stud ies revealed that the disease in this family was distinguished from kn own familial dementia. This is the first report of a large Japanese fa mily with autosomal dominant early onset dementia and leukoencephalopa thy. (C) 1997 Elsevier Science B.V.