家族性Alzheimer病と考えられる姉妹例—症例報告と白血球異数染色体の検討

SUSPECTED CASES OF FAMILIAL ALZHEIMER'S DISEASE:A CASE REPORT AND A STUDY ON ANHUPLOIDY IN LEUCOCYTES

　抄録　家族性Alzheimer病と考えられる非定型的初老期痴呆の姉妹例を報告した。発症はともに40歳前後であり，姉は精神的には自発性低下，もの忘れ，動作緩慢，人格変化，社会的逸脱行為，接触困難等どちらかというとPick病を思わせる症状が目立ち，神経学的には左片麻痺とてんかん発作が見られた。一方妹は自発性低下，動作緩慢に始まり早期から言語症状や頭頂後頭葉の局在徴候が見られAlzheimer病に近い像をとり，神経学的には両側性の錐体路徴候が見られた。臨床的な鑑別診断について文献的考察を加え，この姉妹例が家族性Alzheimer病として報告された非定型的初老期痴呆の特徴をよくそなえていることを示唆した。またamyloid angiopathyの重なっている可能性について考察を加えた。

　この2例において，近年家族性Alzheimer病において特に高率に見られることが報告されている白血球異数染色体の出現率を，患者，健康同胞，性・年齢を対応させた対照者の3群について比較検討してみたが，有意差は見出せなかった。家族性Alzheimer病と染色体異常との関連について，この結果と文献的に報告されている結果とから考察を加えた。

Sibling cases of probable familial Alzheimer's disease were presented. Although familial occurence of Alzheimer's disease has been reported and rela-tively well known in the western literature, little attention has been paied to the matter in Japan. Some of the clinical features of our cases, for ex-ample, an earlier onset and focal neurological signs, are in good agreement with those of the previously reported cases of familial Alzheimer's disease. Pos-sible involvement of vascular changes, such as amy-loid or congophilic angiopathy was also suggested.

An investigation for chroMosomal abnormality in peipheral leucocytes from these patients, their healthy siblings and age- and sex- mathched controls were carried out, revealing no significant differences in the frequencies of the hypo- or hyper- diploid cells among the three groups. Although chromo-somal abnormalities in Alzheimer's disease, especial-ly in its familial form, have gained considerarable 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 accom-panied with chromosomal abnormalities. Further extensive study is needed to clarify the precise relationship between Alzheimer's disease and the chromosomal abnormalities.