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

Lorenzo Pavone, Agata Fiumara, Rita Barone, Renata Rizzo, Piera Buttitta, William B. Dobyns, Jaak Jaeken

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)700-705
Number of pages6
JournalJournal of Neurology
Volume243
Issue number10
DOIs
StatePublished - 1996

Keywords

  • Carbohydrate-deficient glycoprotein syndrome
  • Olivopontocerebellar atrophy

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