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

Journal of the Neurological Sciences

Volumn 372, Issue , 2017, Pages 229-231

  Lan, Min Yu ^a   Chang, Yung Yee ^a   Yeh, Tu Hseuh ^b   Lin, Tsu Kung ^a   Lu, Chin Song ^b  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

Author keywords

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

Indexed keywords

GENOMIC DNA; LACTIC ACID; MESSENGER RNA; ASPARTATE TRANSFER RNA LIGASE; DARS2 PROTEIN, HUMAN;

ADULT; BALANCE IMPAIRMENT; BRAIN STEM; CASE REPORT; DISEASE COURSE; DISEASE DURATION; DNA SEQUENCE; EXON; FEMALE; GENE REARRANGEMENT; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LETTER; LEUKOENCEPHALOPATHY; LIMB WEAKNESS; MUSCLE TONE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RIGIDITY; SPASTIC PARAPLEGIA; SPINAL CORD; UNSTEADY GAIT; WHITE MATTER LESION; DEFICIENCY; DIAGNOSTIC IMAGING; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; PARAPARESIS, SPASTIC; PATHOLOGY;

ADULT; ASPARTATE-TRNA LIGASE; BRAIN STEM; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; MUTATION; PARAPARESIS, SPASTIC; SPINAL CORD;

EID: 84999261488     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2016.11.058     Document Type: Letter

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