神経性筋萎縮症（Charcot-Marie-Tooth型）の1家系—2剖検例を中心として

A REPORT ON A FAMILY OF PROGRESSIVE NEUROPATHIC MUSCULAR ATROPHY (Charcot-Marie-Tooth Disease)

I．はじめに

　神経性筋萎縮症（Neurale Muskelatrophie）は，通常Charcot-Marie-Tooth-Hoffmann型とDejerine-Sottas型乃2基本型に分類される。そして，この2型が1疾患単位と考えられるにいたつたのは，Pette （1924）が病理解剖学的見地から，Dawidenkmw （1927）が臨床遺伝学的見地から，詳細な研究を発表して以来のことである。その後，この両者と遺伝性失調症，とくにFriedreich病との関連が論ぜられるにいたつている。これは，神経性筋萎縮症と遺伝性失調症とが，病理解剖学的にきわめて類縁関係にあること，また同一家系内に両疾患の合併と考えられる例があることなどがその証拠とされている（Götz,Biemond, Stucki et Luban）。1957年，われわれも"神経性進行性筋萎縮症の1剖検例"（精神神経誌，59：897）と題してCharcot-Marie-Tooth型（以下CMT型と略す）の神経性筋萎縮症と遺伝性失調症の類縁について，病理解剖学および臨床遺伝学的見地から論じた。その後同症例の次兄（前報告のIV−15）を最近剖検。さらに同家系の再調査を実施して罹患者の経過を追い，また新患者を発見したので，再度この問題について論じてみたい。ただ前報告と重複する部分はできるかぎり簡略に述べる。

The Authors have made a second investigation on a family that had been reported under the title "An Autopsy Case of Progressive Neuropathic Muscular Atrophy" (1957) and found 2 new patients. Bet-ween the two investigations another patient in the family died and was examined.

Datas obtained from this investigation are:There were 6 patients (male 4, female 2) and 4 suspective patients (male 4) in this family for 4 successive generations. The courses of the all patients were very chronic for more than 20 years. Their main clinical symptoms were the peripheral muscular atrophy of all extremities, fibrillar twiching of muscles, clawfoot, areflexia, nystagmus and mental retardation. And one patient in this family showed the cerebellar ataxia.

Datas obtained through the post mortem examina-tions are: The lesions in the spinal cords were found not only in the dorsal roots, dorsal columns, dorsal horns and spinocerebellar tracts, but also in the pyramidal tracts, anterior horns and anterior roots. In case IV-2 there were apparant degenerations of the cerebellum. The neuropathological findings in the central nervous system of 2 cases are very severe and similar to those of the hereditary ataxia. In spite of the severe degenerations of the peripheral nerves and dorsal columns of the cords, those of the dorsal roots were slight. Also it could not be said that the changes of this disease began in the peripheral nerves.

According to the clinico-pathological findings, the disease of this family belongs to the category of the hereditary ataxia. And it is concluded that there is a new manifestation type of the hereditary ataxia, that could be called "Charcot-Marie-Tooth type."