| Re-evaluation of the dysequilibrium syndrome. | |
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MedLine Citation:
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PMID: 20199520 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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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Authors:
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A Melberg; H Orlén; R Raininko; M Entesarian; J Dahlqvist; K H Gustavson; N Dahl |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Acta neurologica Scandinavica Volume: 123 ISSN: 1600-0404 ISO Abbreviation: Acta Neurol. Scand. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2010-12-06 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370336 Medline TA: Acta Neurol Scand Country: Denmark |
Other Details:
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Languages: eng Pagination: 28-33 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 The Authors. Journal compilation © 2010 Blackwell Munksgaard. |
Affiliation:
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Department of Neuroscience, Unit of Neurology, Uppsala University, Uppsala, Sweden. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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