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Brain and Nerve No to Shinkei Volume 44, Issue 6 （June 1992）

Brain and Nerve 脳と神経 44巻6号（1992年6月発行）

Japanese English

原著

脊髄性筋萎縮症の臨床的・筋病理学的検討 Clinical and Histochemical Findings in Spinal Muscular Atrophy 福永秀敏 ¹ , 森豊隆志 ¹ , 大窪隆一 ¹ , 樋口逸郎 ² , 納光弘 ² Hidetoshi Fukunaga ¹ , Takashi Moritoyo ¹ , Ryuichi Okubo ¹ , Itsuro Higuchi ² , Mitsuhiro Osame ² ¹国立療養所南九州病院神経内科 ²鹿児島大学第三内科 ¹Department of Neurology, National Minamikyusyu Hospital ²Third Department of Internal Medicine, Kagoshima University Hospital キーワード： spinal muscular atrophy , Werdnig-Hoffmann , type 2C fiber , Emery , allelic disease Keyword: spinal muscular atrophy , Werdnig-Hoffmann , type 2C fiber , Emery , allelic disease pp.547-552

発行日 1992年6月1日 Published Date 1992/6/1

DOI https://doi.org/10.11477/mf.1406900347

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Abstract 文献概要
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　脊髄性筋萎縮症（以下SMAと略）は発症年齢や，症状，遺伝形式などが多様であるため種々の分類が行われてきた。我々はEmeryの分類によるI型とI型，16例の臨床的，筋病理学的検討を行った。I型は男児3例，女児4例で生下時より1カ月内に発症し，floppyの状態のまま20日から10カ月内に呼吸障害で死亡している。II型は男児5例，女児4例で発症は3カ月から15カ月で，現在の年齢は4歳から10歳（2例は死亡）である。このように臨床的にはI型とII型の鑑別は容易であり，遺伝相談や予後の判定に有用である。一方，筋病理学的にはI，II型とも群集萎縮など神経原性変化が主体であり，本質的な差異は認められなかった。また，最近のDNAの遺伝的連鎖分析では，SMAのType（型）間には異質性はみられず均質であり，同一遺伝子のヘテロな欠陥による疾患（allelic disorder）である可能性が示唆されている。今後，臨床型と遺伝子異常との詳細な検討が必要である。

The childhood form of the spinal muscular atro phy ( SMA) is classically subdivided into three groups on the basis of a combination of age of onset, milestones of development and age of sur-vival : acute Werdning-Hoffmann (type I ), interme-diate Werdnig-Hoffmann (type II) and Kugelberg-Welander disease (type III). Now we examined 7 cases of type I and 9 cases of type II on clinical and histochemical ground. Of the total of 16 cases, 5 cases had a family history of the disease.

(1) In type I , three were males and 4 females. The onset was within 30 days and the disease was manifest before or at delivery in 3 cases. The progression was so severe. All cases were dead by 10 months. They showed generalized hypotonia, abnormal respiration and could not sit without support.

In type II, five were males and 4 females. The onset of the disease was between the age of 3 and 15 months. The progression was slow. All patients couldn't walk by themselves at all but 7 of them had abilities to sit without support. Clinically it was easy to classify type I from type II.

(2) The most characteristic histochemical find-ings of both types were group atrophy, fiber hyper-trophy, fiber type predominance and fibrosis. Though there was a slight difference between two types in histological pattern, the basis was so simi-lar.

There is controversy about the proper classifica-tion of recessive childhood SMA. Now it is suggest-ed that the majority of both acute and chronic cases are allelic, similar to the patterns of Duchenne and Becker forms of muscular dystrophy.