Re-evaluation of the dysequilibrium syndrome

Authors


Niklas Dahl, Department of Genetics and Pathology, Uppsala University and University Hospital, S-751 85 Uppsala, Sweden
Tel.: +46 18 6112799
Fax: +46 (0)18 554025
e-mail: niklas.dahl@genpat.uu.se

Abstract

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.

Ancillary