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Re-evaluation of the dysequilibrium syndrome

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Melberg A, Örlén H, Raininko R, Entesarian M, Dahlqvist J, Gustavson KH, Dahl N. Re-evaluation of the dysequilibrium syndrome.

Acta Neurol Scand: 2011: 123: 28–33.

© 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Objectives – 

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). Materials and 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.
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Keywords: congenital ataxia; congenital disorder of glycosylation; dysequilibrium syndrome; mental retardation; very low density lipoprotein receptor

Document Type: Research Article

Affiliations: 1: Department of Neuroscience, Unit of Neurology, Uppsala University, Uppsala, Sweden 2: Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, Uppsala, Sweden 3: Department of Radiology, Uppsala University, Uppsala, Sweden

Publication date: 2011-01-01

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