Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

@article{Vermeer2007CerebellarAA,
  title={Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening},
  author={Sascha Vermeer and PhD H. P. H. Kremer and PhD Q. H. Leijten and H. Scheffer and Gert Matthijs and Ron A Wevers and PhD N. A. V. M. Knoers and PhD E. Morava and Dirk J. Lefeber},
  journal={Journal of Neurology},
  year={2007},
  volume={254},
  pages={1356-1358}
}
Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems. A few cases of CDG-Ia have been reported with a milder presentation, namely cerebellar hypoplasia as an isolated abnormality. To identify patients with a glycosylation disorder, isofocusing of plasma… CONTINUE READING

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