Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Definition:

Leukoencephalopathy with brain stem and spinal cord involvement and brain lactate elevation (LBSL) is an autosomal recessive juvenile to adult-onset white matter disorder presenting with slowly progressive pyramidal, cerebellar and dorsal column dysfunction, often leading to wheelchair dependency before age 30 years. LBSL is caused by mutations in the gene DARS2, which codes for mitochondrial aspartyl-tRNA synthetase (mtAspRS).

References:

[1]. Laura van Berge, et al. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. Biochem J. 2012 Feb 1;441(3):955-62. [Content Brief]

[2]. Matthis Synofzik, et al. Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet. 2011 Oct;48(10):713-5. [Content Brief]

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