ⓔノート18-10-3　若年成人発症例

　近年，脊髄小脳変性症，あるいは脊髄性筋萎縮症類似の若年成人発症例が海外で報告された1,2)．また，Tay–Sachs病とAlzheimer病，Parkinson病との病理学的な関連が注目されている3)．

〔宮嶋裕明〕

■文献

  1. Hund E, Grau A, et al: Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. J Neurol Sci, 1997; 145: 25–31.

  2. Neudorfer O, Pastores GM, et al: Late–onset Tay–Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med, 2005; 7: 119–123.

  3. Bisel B, Pavone FS, et al: GM1 and GM2 gangliosides: recent developments. Biomol Concepts, 2014; 5: 87–93.