title: [Suspected cases of familial Alzheimer's disease-a case report and a study on aneuploidy in leukocytes (author's transl)].
abstract: Sibling cases of probable familial Alzheimer's disease were presented. Although familial occurence of Alzheimer's disease has been reported and relatively well known in the western literature, little attention has been paid to the matter in Japan. Some of the clinical features of our cases, for example, an earlier onset and focal neurological signs, are in good agreement with those of the previously reported cases of familial Alzheimer's disease. Possible involvement of vascular changes, such as amyloid or congophilic angiopathy was also suggested. An investigation for chromosomal abnormality in peripheral leukocytes from these patients, their healthy siblings and age-and sex-matched controls were carried out, revealing no significant differences in the frequencies of the hypo- or hyper- diploid cells among the three groups. Although chromosomal abnormalities in Alzheimer's disease, especially in its familial form, have gained considerable attention in relation to the dysfunction of the microtubules which is a proposed pathogenesis of the disease, the present results together with a few previously reported data 1,6,19) suggest that the familial Alzheimer's disease is not always accompanied with chromosomal abnormalities. Further extensive study is needed to clarify the precise relationship between Alzheimer's disease and the chromosomal abnormalities.
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D000782:Aneuploidy; D003704:Dementia / Q000235:genetics*; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000648:ultrastructure*; D008875:Middle Aged