|Name||Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|
|Description||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).|
|Category||Nervous system disease; Congenital disorder of metabolism|
|Gene||DARS2 [HSA:55157] [KO:K01876]|
|Other DBs||ICD-11: 5C53.23
AUTHORS van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC
TITLE Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
JOURNAL Biochem J 441:955-62 (2012)
AUTHORS Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schols L
TITLE Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
JOURNAL J Med Genet 48:713-5 (2011)