Re-evaluation of the dysequilibrium syndrome.
Acta Neurol Scand
; 123(1): 28-33, 2011 Jan.
Article
in En
| MEDLINE
| ID: mdl-20199520
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 ANDMETHODS:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Receptors, LDL
Type of study:
Diagnostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Europa
Language:
En
Journal:
Acta Neurol Scand
Year:
2011
Document type:
Article
Affiliation country:
Sweden