Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening
作者: S. VermeerH. P. H. KremerQ. H. LeijtenH. SchefferG. MatthijsR. A. WeversN. A. V. M. KnoersE. MoravaD. J. Lefeber
作者单位: 1Dept. of Human Genetics, Radboud University, Nijmegen Medical Centre
2Dept. of Neurology, Radboud University, Nijmegen Medical Centre
3Dept. of Neurology, Rijnstate Hospital
4Centre for Human Genetics, University Hospital
5Dept. of Pediatrics, Radboud University, Nijmegen Medical Centre
6Radboud University, Nijmegen Medical Center, Laboratory of Pediatrics and Neurology (656)
刊名: Journal of Neurology, 2007, Vol.254 (10), pp.1356-1358
来源数据库: Springer Nature Journal
DOI: 10.1007/s00415-007-0546-3
关键词: cerebellar ataxiatransferrin isofocusingCDG-Iaphosphomannomutase
英文摘要: Abstract(#br)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 transferrin is routinely performed. Here, we describe two CDG-Ia patients,who presented with mainly ataxia and cerebellar hypoplasia and with a normal or only slightly abnormal transferrin isofocusing result. Surprisingly, the activity of the corresponding enzyme phosphomannomutase was...
全文获取路径: Springer Nature  (合作)
影响因子:3.578 (2012)

  • congenital 先天的
  • glycosylation 糖基化
  • ataxia 运动失调
  • disorder 无序
  • routine 程序
  • screening 筛分
  • normal 法线