title: Adult-onset leukoencephalopathy with brain stem and spinal cord involvement in Chinese Han population: a case report and literature review.
abstract: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a recently described disorder with an autosomal recessive mode of inheritance. We report a case of rare adult-onset LBSL with typical magnetic resonance imaging (MRI) features. The DARS2 gene mutation analysis has identified a c. 228-20_21delTTinsC (p.R76SfsX5) mutation and a c. 850G > A (p. 284E > K) mutation. With glucocorticosteroid treatment the patient has had improvement in bladder symptoms. This is the first reported adult-onset LBSL case in the Chinese Han population. A review of the literature suggests that brain lactate elevation in adult-onset LBSL is lower than early-onset cases (P < 0.01), and early-onset cases show mild intelligence and cognition decline. These observations suggest that age of onset and brain lactate levels probably influence the prognosis of LBSL.
authors: Department of Neurology, The First Affiliated Hospital of Jilin University, Changchun, Jilin Province, People's Republic of China.
authors: Fu-Bo
authors: FB
authors: Cheng
authors: Ping-Ping
authors: PP
authors: Shen
authors: Hong-Wei
authors: HW
authors: Zhou
authors: Hong-Mei
authors: HM
authors: Meng
authors: Yu
authors: Y
authors: Yang
authors: Jia-Chun
authors: JC
authors: Feng
mesh_terms: D000328:Adult; D044466:Asian People; D001226:Aspartate-tRNA Ligase / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology; D001933:Brain Stem / Q000378:metabolism / Q000473:pathology*; D002681:China; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism; D056784:Leukoencephalopathies / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology*
chemical_list: D019344:Lactic Acid; D001226:Aspartate-tRNA Ligase; C558608:DARS2 protein, human