title: Re-evaluation of the dysequilibrium syndrome.
abstract: OBJECTIVE
  To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR).
  
  
  METHODS
  Six patients from five families underwent neurological examination and magnetic resonance imaging (MRI) of the brain. Blood samples from the patients were screened for serum carbohydrate-deficient transferrin (s-CDT; disialotransferrin). The very-low-density lipoprotein receptor (VLDLR) gene was sequenced.
  
  
  RESULTS
  Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature. Mental retardation and strabismus, characteristic for DES-VLDLR, were inconsistent among our patients. None of our patients had VLDLR mutations or MRI findings characteristic of DES-VLDLR. MRI findings were variable from a normal cerebellum to marked cerebellar hypoplasia or atrophy and signal intensity changes. One patient was diagnosed with congenital disorder of glycosylation type 1a (CDG-1a).
  
  
  CONCLUSIONS
  DES was originally coined on mainly clinical grounds before MRI and specific genetic tests were available, both of which should be used to arrive at an appropriate diagnosis.
authors.affiliation: Department of Neuroscience, Unit of Neurology, Uppsala University, Uppsala, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Melberg
authors.forename: H
authors.initials: H
authors.lastname: Orlén
authors.forename: R
authors.initials: R
authors.lastname: Raininko
authors.forename: M
authors.initials: M
authors.lastname: Entesarian
authors.forename: J
authors.initials: J
authors.lastname: Dahlqvist
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: N
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia; D002531:Cerebellum / Q000002:abnormalities; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination / Q000379:methods; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics; D011973:Receptors, LDL / Q000235:genetics*; D012016:Reference Values; D013548:Sweden; D014168:Transferrin / Q000031:analogs & derivatives / Q000172:deficiency
chemical_list: D011973:Receptors, LDL; D014168:Transferrin; C036053:VLDL receptor; C056759:carbohydrate-deficient transferrin; D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human