Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2

被引：0
|
作者：
Tzoulis, C. [1 ,2 ]
Tran, G. T. [1 ,2 ]
Gjerde, I. O. [1 ]
Aasly, J. [3 ]
Neckelmann, G. [4 ]
Rydland, J. [5 ]
Varga, V. [1 ]
Wadel-Andersen, P. [6 ]
Bindoff, L. A. [1 ,2 ]
机构：
[1] Haukeland Hosp, Dept Neurol, N-5021 Bergen, Norway
[2] Univ Bergen, Dept Clin Med, Bergen, Norway
[3] St Olavs Hosp, Dept Neurol, Trondheim, Norway
[4] Haukeland Hosp, Dept Radiol, N-5021 Bergen, Norway
[5] St Olavs Hosp, Dept Radiol, Trondheim, Norway
[6] Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2012年 / 19卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：728 / 728
页数：1
相关论文
共 50 条
  • [21] Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    Wongkittichote, Parith
    Magistrati, Martina
    Shimony, Joshua S.
    Smyser, Christopher D.
    Fatemi, Seyed Ali
    Fine, Amena S.
    Bellacchio, Emanuele
    Dallabona, Cristina
    Shinawi, Marwan
    MOLECULAR GENETICS AND METABOLISM, 2022, 136 (04) : 260 - 267
  • [22] The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey
    Cavusoglu, Dilek
    Olgac-Dundar, Nihal
    Oztekin, Ozgur
    Ozdemir, Taha Resid
    Arican, Pinar
    Gencpinar, Pinar
    TURKISH JOURNAL OF PEDIATRICS, 2018, 60 (02) : 216 - 220
  • [23] Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate
    Serkov, SV
    Pronin, IN
    Bykova, OV
    Maslova, OI
    Arutyunov, NV
    Muravina, TI
    Kornienko, VN
    Fadeeva, LM
    Marks, H
    Bönnemann, C
    Schiffmann, R
    van der Knaap, MS
    NEUROPEDIATRICS, 2004, 35 (01) : 1 - 5
  • [24] A novel homozygous mutation of DARS2 may cause a severe LBSL variant
    Miyake, N.
    Yamashita, S.
    Kurosawa, K.
    Miyatake, S.
    Tsurusaki, Y.
    Doi, H.
    Saitsu, H.
    Matsumoto, N.
    CLINICAL GENETICS, 2011, 80 (03) : 293 - 296
  • [25] Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): Assessment of the involved white matter tracts by MRP
    Kassem, Hassan
    Wafaie, Ahmed
    Abdelfattah, Sherif
    Farid, Tarek
    EUROPEAN JOURNAL OF RADIOLOGY, 2014, 83 (01) : 191 - 196
  • [26] Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused by DARS1 mutations
    Zhu, Jingyi
    Guo, Xiaomin
    Ran, Ningjing
    Liang, Jingtao
    Liu, Fuyou
    Liu, Junyan
    Wang, Rongyu
    Jiang, Lianyan
    Yang, Dongdong
    Liu, Meijun
    FRONTIERS IN GENETICS, 2023, 13
  • [27] Teaching NeuroImages: MRI guides genetics Leukoencephalopathy with brainstem and spinal cord involvement (LBSL)
    Schicks, Julia
    Schoels, Ludger
    van der Knaap, Marjo S.
    Synofzik, Matthis
    NEUROLOGY, 2013, 80 (16) : E176 - E177
  • [28] A Case of AARS2 Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
    Doyle, Michael
    Lynch, John
    NEUROLOGY, 2018, 90
  • [29] MR characteristics in LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation)
    Heckl, Stefan
    Gohla, Georg
    Schwarz, Ricarda
    Baumgartner, Karolin
    Horger, Marius
    ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN, 2024, 196 (05): : 417 - 420
  • [30] Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
    Yahia, Ashraf
    Elsayed, Liena
    Babai, Arwa
    Salih, Mustafa A.
    El-Sadig, Sarah Misbah
    Amin, Mutaz
    Koko, Mahmoud
    Abubakr, Rayan
    Idris, Razaz
    Taha, Shaimaa Omer M. A.
    Elmalik, Salah A.
    Brice, Alexis
    Ahmed, Ammar Eltahir
    Stevanin, Giovanni
    BMC NEUROLOGY, 2018, 18
12345