Re-evaluation of the dysequilibrium syndrome.

Abstract:

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.

journal_name

Acta Neurol Scand

authors

Melberg A,Orlén H,Raininko R,Entesarian M,Dahlqvist J,Gustavson KH,Dahl N

doi

10.1111/j.1600-0404.2010.01335.x

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

28-33

issue

1

eissn

0001-6314

issn

1600-0404

pii

ANE1335

journal_volume

123

pub_type

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