Article
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
Molecular and cellular probes - 1 Oct 2015
Köhler Cornelia, Heyer Christoph, Hoffjan Sabine, Stemmler Susanne, Lücke Thomas, Thiels Charlotte, Kohlschütter Alfried, Löbel Ulrike, Horvath Rita, Kleinle Stephanie, Benet-Pages Anna, Abicht Angela
Abstract excerpt
Mutations in the DARS2 gene are known to cause leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), a rare autosomal recessive neurological disorder. It was originally described as juvenile-onset slowly progressive ataxia and spasticity, but recent reports suggest a broader clinical spectrum. Most patients were found to carry compound heterozygous DARS2 mutations, and only...
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