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Re-evaluation of the dysequilibrium syndrome
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology, Radiology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2011 (English)In: Acta Neurologica Scandinavica, ISSN 0001-6314, E-ISSN 1600-0404, Vol. 123, no 1, 28-33 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2011. Vol. 123, no 1, 28-33 p.
Keyword [en]
congenital ataxia, dysequilibrium syndrome, congenital disorder of glycosylation, mental retardation, very low density lipoprotein receptor
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Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-124862DOI: 10.1111/j.1600-0404.2010.01335.xISI: 000284961100005PubMedID: 20199520OAI: oai:DiVA.org:uu-124862DiVA: diva2:318065
Available from: 2010-05-06 Created: 2010-05-06 Last updated: 2017-12-12Bibliographically approved

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Raininko, Raili

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