Holmes型小脳萎縮症の2剖検例

Hereditary cerebellar atrophy of Holmes type: A report of two autopsy cases, one with spinal cord and peripheral nerve involvement.

I．はじめに

　Holmes型小脳萎縮症（Cerebcllo-olivary atrophy，Holmes type）は，遺伝性，晩発性に発現し，進行性の小脳性運動失調を主症状とする疾患^6）で，その病理組織像は，Purkinje細胞の脱落を含む小脳皮質の変性と二次性と考えられる下オリーブ核の変性とから成る"cerebello-olivary degeneration"^7）として確立されているように思われる。しかしながら，これまでその剖検例の報告は少なくないが^{1〜3,10,11,13,14,18,22,23,26〜28,30,31,33,35）}，残念なことに，それらのほとんどは，検索が頭蓋内中枢神経系に限られており，脊髄および末梢神経系の病理組織学的記載はきわめて乏しいのが現状である。

　われわれは，最近2家系において脊髄および末梢神経系を含め検索しえたHolmes型小脳萎縮症の2剖検例を経験したので報告し，その神経病理学的所見を中心に考察を加える。

　We report clinical and pathological findings of two autopsied cases from different families with dominantly inherited progressive cerebellar ataxia. Case 1.…a 66-year-old man. He first noticed unsteadiness in walking and clumsiness in speaking at the age of 30. These symptoms were slowly progressive. At the age of 52, mental deterioration was pointed out and increased gradually. Neurologic examination revealed ataxia, dysarthria, adiadochokinesis, terminal tremor, areflexia and dementia. Sensation was normal. At the age of 62, nystagmus, urinary incontinence and bulbar palsy appeared. Babinski sign was positive on bothsides. Ataxia and dementia progressed, and hebecame bedridden at the age of 65. He died ofgastric cancer. Total clinical course was about 36years.