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Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I

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Abstract

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.

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Correspondence to Lorenzo Pavone.

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Pavone, L., Fiumara, A., Barone, R. et al. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol 243, 700–705 (1996). https://doi.org/10.1007/BF00873975

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Key words

  • Carbohydrate-deficient glycoprotien syndromme
  • Olivopontocerebellar atrophy