Alzheimer病の1家系（5例発症）

Familial Alzheimer's Disease (5 cases in 2 generations)

　抄録　家族性Alzheimer病の報告は欧米でかなりあるが本邦では5家系のみである。われわれは遺伝負因を有する2代5例（男性2例，女性3例）の臨床的Alzheimer病を経験し，その1例（15年間観察）について剖検所見を得，Alzheimer病と診断されたので報告する。

　臨床的には発病年齢は38歳から52歳で，初発より死亡まで7〜15年で男女差はない。初発症状はすべて記銘力障害で始まり，地誌的障害が加わり，ついで諸神経心理学的症状が出現し，末期に錐体路・錐体外路症状などの神経症状が顕著となった。

　脳病理所見では肉眼的には脳重1080gで大脳半球はび漫性に萎縮し，とくに前頭葉，側頭葉で目立った。脳回の皮質，髄質とも萎縮し，とくにAmmon角，扁桃核，海馬旁回で顕著であった。組織学的にはAlzheimer原線維変性，老人斑，顆粒空胞変性が著明にみられた。

　臨床症状，神経症状，家族性発症と非家族性発症の比較，遺伝様式について考察した。

　Although widely reported in the West, only five reports of familial Alzheimer's disease have been made in Japan. We report a family afflicted with Alzheimer's disease with 5 cases in 2 generations: 2 males and 3 females. One member of the family (Ⅲ-2), whose pedigree is shown in Fig. 1, was examined pathologically.

　The clinical symptoms of dementia of the family appear in between 38 and 52 years of age with the patient expiring 8 to 15 years after onset. The initial symptoms of all cases were loss of memory, followed by topographical disturbance and other neuropsychological signs. Neurological symptoms (piramidal and extrapiramidal symptoms) appeared in the end stadium.

　Autopsy material from Ⅲ-2 provided the pathological confirmations of the diagnosis of Alzheimer's disease in this family. Gross examination of whole brain showed diffuse atrophic changes with a general decrease in size and weight (1080 g), deepened sulci, and shrunken gyri in all areas of the cortex, especially in the frontal and temporal lobes. Coronal section (Fig. 2) revealed an enlarged ventricular system. Microscopic examinations of the cortex revealed Alzheimer's neurofibrillary changes, senile plaques and granulovacuolar changes (Figs. 3, 4).

　We commented on the clinical features, neurological features and hereditary system.