Gepubliceerd in:

01-02-2013

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Study of the phenotype and genotype and their correlation

Auteurs: Eline M. Hamilton, Laura van Berge, Marjan E. Steenweg, Gert C. Scheper, Truus E. Abbink, Tarja Linnankivi, Marjo S. van der Knaap

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) is a rare autosomal recessive disorder with a distinctive MRI and spectroscopy pattern, clinically characterized by slowly progressive ataxia, spasticity and dorsal column dysfunction. The disease is caused by mutations in the DARS2 gene. There is a wide clinical variation. The aim of this study was to make an inventory of the clinical severity, disease course and genotype in LBSL patients and to study the possible influence of the genotype on the phenotype. …

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