小脳核−結合腕と淡蒼球−ルイ体の変性を示した同胞例—小脳核系と淡蒼球系の原発性系統変性

COMBINED DEGENERATION OF THE GLOBUS PALLIDUS AND THE CEREBELLAR NUCLEI AND THEIR EFFERENT SYSTEMS IN TWO SIBLINGS OF ONE FAMILY:PRIMARY SYSTEM DEGENERATION OF THE GLOBUS PALLIDUS AND THE CEREBELLAR NUCLEI

I．はじめに

　4代にわたる125名の家系のなかで，22例の遺伝性失調症が観察された（第1図）^5）。初発年齢は初代，二代目では50〜70歳代で，三代目は10〜20歳代，四代目では出産直後からと，世代をへるごとに若くなつている。この家系のなかで，存命していた9例のうち7例が臨床的に調査された（昭和46年4月現在）。

　症候学的に7例に共通しているものは，失調性歩行，共同運動障害，構音障害，痴呆であつた。このほか5例では，嚥下障害と不随意運動がみとめられ，後者はいずれもヒョレア・アテトーゼ様で，顔面・上肢にみられた。下肢の腱反射亢進をみたものは5例で，いずれもバビンスキーなどの病的反射をみとめた。けいれん発作は3例にみられた。

In a family having 22 patients of hereditary ataxia, 7 cases were clinically studied. The common symptoms of the cases were ataxic gait, incoordi-nation, dysarthria and dementia. In addition, some of them had choreo-athetotic movements, convulsive seizures, dysphagia and temporarily appeared myo-clonus.

Two siblings of the family were studied clinically and neuropathologically. The initial symptoms was convulsive seizures at 26 years old in the first case and clumsiness of the extremities at 43 years old in the second. The duration of the course was about 13 years and 5 years, respectively. The second case died accidentally due to misswallowing.

The main neuropathological findings were atrophy of the deep cerebellar nuclei and the pallido-luysial system in both cases, but more severe in the first case.

The deep cerebellar nuclei and its efferent system ; Loss of nerve cells and "grumose degeneration" in the remaining cells were found not only in the dentate nucleus but also in the globose-, emboliform-and roof nuclei. Also, atrophy and remarkable gliosis existed bilaterally in the brachium con-junctivum.

The pallido-luysial system ; Bilateral degenerative changes occured in the globus pallidus, dominantly in its external segments with reactive gliosis. Also, in the subthalamic nucleus resulting spongy ap-pearance the nerve cells were markedly diminished and the rest cells were severely degenerated. Inaddition, slight degeneration were observed in the inferior olivary nuclei of both cases, and in the pyramidal tract of one case.

From our neuropathological findings it is assumedthat systemic degenerative changes may occurprimarily both in the deep cerebellar nuclear and the pallido-luysial systems.