Re-evaluation of the dysequilibrium syndrome.
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.
Melberg
A
A
Department of Neuroscience, Unit of Neurology, Uppsala University, Uppsala, Sweden.
Orlén
H
H
Raininko
R
R
Entesarian
M
M
Dahlqvist
J
J
Gustavson
K H
KH
Dahl
N
N
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
D011973:Receptors, LDL; D014168:Transferrin; C036053:VLDL receptor; C056759:carbohydrate-deficient transferrin; D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human