| H00871 | |
| H number | H00871 |
| 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 | Inherited metabolic disorder, Mitochondrial disease |
| Network | - |
| Gene | DARS2 [HSA:55157] [KO:K01876] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.23 ICD-10: E75.2 MeSH: C567009 OMIM: 611105 |
| Reference | PMID:22023289 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) DOI:10.1042/BJ20110795 PMID:21749991 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) DOI:10.1136/jmg.2011.090282 |