Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis

Min-Yu Lan; Yung-Yee Chang; Tu-Hseuh Yeh; Tsu-Kung Lin; Chin-Song Lu

doi:10.1016/j.jns.2016.11.058

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) with a novel DARS2 mutation and isolated progressive spastic paraparesis

J Neurol Sci. 2017 Jan 15:372:229-231. doi: 10.1016/j.jns.2016.11.058. Epub 2016 Nov 24.

Authors

Min-Yu Lan¹, Yung-Yee Chang², Tu-Hseuh Yeh³, Tsu-Kung Lin⁴, Chin-Song Lu⁵

Affiliations

¹ 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: [email protected].
² 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: [email protected].
³ 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: [email protected].
⁴ 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: [email protected].
⁵ 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: [email protected].

PMID: 28017220
DOI: 10.1016/j.jns.2016.11.058

No abstract available

Keywords: Gene rearrangement; Hereditary spastic paraplegia; Leukoencephalopathy; Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.

Publication types

Case Reports
Letter

MeSH terms

Adult
Aspartate-tRNA Ligase / deficiency*
Aspartate-tRNA Ligase / genetics
Brain Stem / diagnostic imaging*
DNA Mutational Analysis
Female
Humans
Leukoencephalopathies / genetics*
Leukoencephalopathies / pathology*
Magnetic Resonance Imaging
Mitochondrial Diseases / genetics*
Mitochondrial Diseases / pathology*
Mutation / genetics*
Paraparesis, Spastic / etiology*
Spinal Cord / diagnostic imaging

Substances

Aspartate-tRNA Ligase
DARS2 protein, human

Supplementary concepts

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation