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Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.
MedLine Citation:
PMID:  21792730     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) is a rare, autosomal recessive disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. The disease is characterized by progressive spastic ataxia and magnetic resonance imaging (MRI) shows a highly characteristic leukoencephalopathy with multiple long tract involvement. We describe the clinical and radiological features of two new cases of LBSL and report a novel pathogenic mutation in the DARS2 gene. Both patients had typical clinical and radiological findings, although no elevated lactate was found. The severity of MRI changes did not correlate with clinical course and severity suggesting that, although of highly specific diagnostic value, MRI does not necessarily reflect clinical activity and should not be used to assess disease severity or prognosis in LBSL.
Authors:
Charalampos Tzoulis; Gia Tuong Tran; Ivar Otto Gjerde; Jan Aasly; Gesche Neckelmann; Jana Rydland; Viktoria Varga; Pia Wadel-Andersen; Laurence A Bindoff
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-7-27
Journal Detail:
Title:  Journal of neurology     Volume:  -     ISSN:  1432-1459     ISO Abbreviation:  -     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-7-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway, chtzoulis@yahoo.com.
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