title: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis.
authors.affiliation: Center for Parkinson's Disease, Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, 123 Ta-Pi Road, Niaosong, Kaohsiung 833, Taiwan. Electronic address: myl@ksts.seed.net.tw.
authors.forename: Min-Yu
authors.initials: MY
authors.lastname: Lan
authors.affiliation: Center for Parkinson's Disease, Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, 123 Ta-Pi Road, Niaosong, Kaohsiung 833, Taiwan. Electronic address: changyy7@gmail.com.
authors.forename: Yung-Yee
authors.initials: YY
authors.lastname: Chang
authors.affiliation: Neuroscience Research Center, Chang Gung Memorial Hospital, and Chang Gung University, Linkou, 5 Fu-Shin Street, Kwei-Shan, Taoyuan 333, Taiwan; Division of Movement Disorder, Department of Neurology, Chang Gung Memorial Hospital, and Chang Gung University, Linkou, 5 Fu-Shin Street, Kwei-Shan, Taoyuan 333, Taiwan. Electronic address: neuroyeh@gmail.com.
authors.forename: Tu-Hseuh
authors.initials: TH
authors.lastname: Yeh
authors.affiliation: Center for Parkinson's Disease, Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, 123 Ta-Pi Road, Niaosong, Kaohsiung 833, Taiwan. Electronic address: tklin@cgmh.org.tw.
authors.forename: Tsu-Kung
authors.initials: TK
authors.lastname: Lin
authors.affiliation: Neuroscience Research Center, Chang Gung Memorial Hospital, and Chang Gung University, Linkou, 5 Fu-Shin Street, Kwei-Shan, Taoyuan 333, Taiwan; Division of Movement Disorder, Department of Neurology, Chang Gung Memorial Hospital, and Chang Gung University, Linkou, 5 Fu-Shin Street, Kwei-Shan, Taoyuan 333, Taiwan. Electronic address: bob.cslu@gmail.com.
authors.forename: Chin-Song
authors.initials: CS
authors.lastname: Lu
mesh_terms: D000328:Adult; D001226:Aspartate-tRNA Ligase / Q000172:deficiency* / Q000235:genetics; D001933:Brain Stem / Q000000981:diagnostic imaging*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000209:etiology*; D013116:Spinal Cord / Q000000981:diagnostic imaging
chemical_list: D001226:Aspartate-tRNA Ligase; C558608:DARS2 protein, human
keywords: Gene rearrangement; Hereditary spastic paraplegia; Leukoencephalopathy; Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation