| H00871 | |
| H番号 | H00871 |
| 名称 | 脳幹及び脊髄障害と乳酸上昇を伴う白質脳症 |
| 概要 | 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). |
| カテゴリ | 先天性代謝異常症, ミトコンドリア病 |
| ネットワーク | - |
| 病因遺伝子 | DARS2 [HSA:55157] [KO:K01876] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.23 ICD-10: E75.2 MeSH: C567009 OMIM: 611105 |
| 文献 | PMID:22023289 著者 van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC タイトル Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. 雑誌 Biochem J 441:955-62 (2012) DOI:10.1042/BJ20110795 PMID:21749991 著者 Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schols L タイトル Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. 雑誌 J Med Genet 48:713-5 (2011) DOI:10.1136/jmg.2011.090282 |