Literature DB >> 28017220

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

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

Abstract

Entities:  

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

Mesh：

Substances：

Year:  2016        PMID： 28017220     DOI： 10.1016/j.jns.2016.11.058

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  7 in total

Review 1.  Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.

Authors:  Rebecca Meyer-Schuman; Anthony Antonellis
Journal:  Hum Mol Genet       Date:  2017-10-01       Impact factor: 6.150

2.  Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.

Authors:  Martje G Pauly; Yorck Hellenbroich; Kathrin Grundmann-Hauser; Frauke Hinrichs; Katja Lohmann; Norbert Brüggemann
Journal:  Mov Disord Clin Pract       Date:  2021-06-14

3.  A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

Authors:  Keiko Shimojima; Takafumi Higashiguchi; Kanako Kishimoto; Satoko Miyatake; Noriko Miyake; Jun-Ichi Takanashi; Naomichi Matsumoto; Toshiyuki Yamamoto
Journal:  Hum Genome Var       Date:  2017-11-09

4.  Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study.

Authors:  Pasquini Luca; Guarnera Alessia; Rossi-Espagnet Maria Camilla; Napolitano Antonio; Martinelli Diego; Deodato Federica; Diodato Daria; Carrozzo Rosalba; Dionisi-Vici Carlo; Longo Daniela
Journal:  Neuroradiology       Date:  2020-07-22       Impact factor: 2.804

Review 5.  Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity.

Authors:  Jeng-Lin Li; Ni-Chung Lee; Pin-Shiuan Chen; Gin Hoong Lee; Ruey-Meei Wu
Journal:  Mov Disord Clin Pract       Date:  2021-08-11

Review 6.  Involvement of the Spinal Cord in Mitochondrial Disorders.

Authors:  Josef Finsterer; Sinda Zarrouk-Mahjoub
Journal:  J Neurosci Rural Pract       Date:  2018 Apr-Jun

7.  Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).

Authors:  Tsu-Kung Lin; Yung-Yee Chang; Hung-Yu Lin; Chia-Wei Liou; Pei-Wen Wang; Jiin-Haur Chuang; Shang-Der Chen; Yao-Chung Chuang; Sheng-Teng Huang; Te-Yao Hsu; Cheng-Huei Peng; Min-Yu Lan
Journal:  PLoS One       Date:  2019-10-31       Impact factor: 3.240
  7 in total

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