DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy

被引:4
|
作者
Vieira de Rezende Pinto, Wladimir Bocca [1 ]
Sgobbi de Souza, Paulo Victor [1 ]
机构
[1] Fed Univ Sao Paulo UNIFESP, Dept Neurol & Neurosurg, Div Gen Neurol, BR-04023900 Sao Paulo, Brazil
关键词
SPINAL-CORD INVOLVEMENT; BRAIN-STEM; HIGH LACTATE; HOMOZYGOUS MUTATION;
D O I
10.1093/brain/awu134
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
页数:2
相关论文
共 50 条
  • [1] Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy
    van der Knaap, Marjo S.
    Hamilton, Eline M.
    van Berge, Laura
    BRAIN, 2014, 137
  • [2] Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene
    Lin, Jaime
    Faria, Eliete Chiconelli
    Da Rocha, Antonio Jose
    Masruha, Marcelo Rodrigues
    Pereira Vilanova, Luiz Celso
    Scheper, Gert C.
    Van der Knaap, Marjo S.
    JOURNAL OF CHILD NEUROLOGY, 2010, 25 (11) : 1425 - 1428
  • [3] Phenotypic spectrum of DARS2 mutations
    Finsteree, Josef
    Zarrouk-Mahjoub, Sinda
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 376 : 117 - 118
  • [4] Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene
    Charalampos Tzoulis
    Gia Tuong Tran
    Ivar Otto Gjerde
    Jan Aasly
    Gesche Neckelmann
    Jana Rydland
    Viktoria Varga
    Pia Wadel-Andersen
    Laurence A. Bindoff
    Journal of Neurology, 2012, 259 : 292 - 296
  • [5] Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene
    Tzoulis, Charalampos
    Gia Tuong Tran
    Gjerde, Ivar Otto
    Aasly, Jan
    Neckelmann, Gesche
    Rydland, Jana
    Varga, Viktoria
    Wadel-Andersen, Pia
    Bindoff, Laurence A.
    JOURNAL OF NEUROLOGY, 2012, 259 (02) : 292 - 296
  • [6] Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
    Koehler, Cornelia
    Heyer, Christoph
    Hoffjan, Sabine
    Stemmler, Susanne
    Luecke, Thomas
    Thiels, Charlotte
    Kohlschuetter, Alfried
    Loebel, Ulrike
    Horvath, Rita
    Kleinle, Stephanie
    Benet-Pages, Anna
    Abicht, Angela
    MOLECULAR AND CELLULAR PROBES, 2015, 29 (05) : 319 - 322
  • [7] Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: Two Siblings with A Novel Mutation in The DARS2 Gene
    Yelam, Anudeep
    Nagarajan, Elanagan
    Chuquilin, Miguel
    Govindarajan, Raghav
    NEUROLOGY, 2019, 92 (15)
  • [8] A New DARS2 Mutation Discovered in an Adult Patient
    N'Gbo N'Gbo Ikazabo, Rosy
    Mostosi, Christian
    Jissendi, Patrice
    Labaisse, Marie-Anne
    Vandernoot, Isabelle
    CASE REPORTS IN NEUROLOGY, 2020, 12 (01) : 107 - 113
  • [9] Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
    Bostanova, Fatima M.
    Tsygankova, Polina G.
    Larshina, Elena A.
    Nagornov, Ilya O.
    Evseeva, Yulia V.
    Krutikhina, Irina L.
    Dzhentemirova, Marina E.
    Kashlakova, Marina N.
    Petukhova, Marina S.
    Sharkova, Inna V.
    Zakharova, Ekaterina Y.
    GENES, 2024, 15 (05)
  • [10] Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation
    Huang, Wei-Lin
    Steenari, Maija R.
    Barrick, Rebekah
    Simon, Mariella T.
    Chang, Richard
    Eftekharian, Shaya S.
    Stover, Alexander
    Schwartz, Philip H.
    Latini, Alexandra
    Abdenur, Jose E.
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2024, 38