Late-onset POLR3-related Leukodystrophy: report of a novel compound heterozygous mutation in the POLR3A gene and review of the phenotype

被引:0
|
作者
Pacheco, Laura Pesantez [1 ]
Hallett, Mark [2 ]
机构
[1] NINDS, Human Motor Control Sect, Bethesda, MD 20892 USA
[2] NIH, Human Motor Control Sect, Bethesda, MD USA
关键词
D O I
10.1212/WNL.0000000000202228
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P13-11.006
引用
收藏
页数:3
相关论文
共 50 条
  • [31] 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations
    Potic, Ana
    Brais, Bernard
    Choquet, Karine
    Schiffmann, Raphael
    Bernard, Genevieve
    ARCHIVES OF NEUROLOGY, 2012, 69 (07) : 920 - 923
  • [32] Adult onset POLR3A leukodystrophy presenting with parkinsonism treated with pallidal deep brain stimulation
    Kyle, Kevin
    Mason, Xenos
    Bordelon, Yvette
    Pouratian, Nader
    Bronstein, Jeff
    PARKINSONISM & RELATED DISORDERS, 2021, 85 : 23 - 25
  • [33] Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement
    Azmanov, Dimitar N.
    Siira, Stefan J.
    Chamova, Teodora
    Kaprelyan, Ara
    Guergueltcheva, Velina
    Shearwood, Anne-Marie J.
    Liu, Ganqiang
    Morar, Bharti
    Rackham, Oliver
    Bynevelt, Michael
    Grudkova, Margarita
    Kamenov, Zdravko
    Svechtarov, Vassil
    Tournev, Ivailo
    Kalaydjieva, Luba
    Filipovska, Aleksandra
    HUMAN MOLECULAR GENETICS, 2016, 25 (19) : 4302 - 4314
  • [34] Stress and quality of life of parents of children with POLR3-related (4H) leukodystrophy
    Lentini, Laura
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [35] A 42-year-old woman with 4H leukodystrophy caused by a homozygous mutation in POLR3A gene
    YangYi-Ming
    ZhaoZhong-Min
    JiaYan-Li
    JiaYang-Juan
    HanNing
    WangJian-Hua
    中华医学杂志英文版, 2019, 132 (15) : 1879 - 1880
  • [36] A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review
    Sun, Lei
    Lin, Weihong
    Meng, Hongmei
    Zhang, Wuqiong
    Hou, Shuai
    FRONTIERS IN NEUROLOGY, 2023, 14
  • [37] A 42-year-old woman with 4H leukodystrophy caused by a homozygous mutation in POLR3A gene
    Yang, Yi-Ming
    Zhao, Zhong-Min
    Jia, Yan-Li
    Jia, Yang-Juan
    Han, Ning
    Wang, Jian-Hua
    CHINESE MEDICAL JOURNAL, 2019, 132 (15) : 1879 - 1880
  • [38] POLR3A-Related Disorder Presenting with Late-Onset Dystonia and Spastic Paraplegia
    Matos, Paula Camila Alves de Assis Pereira
    Gama, Maria Thereza Drumond
    Bezerra, Marcio Luiz Escorcio
    da Rocha, Antonio Jose
    Barsottini, Orlando G. P.
    Pedroso, Jose Luiz
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2020, 7 (04): : 467 - 469
  • [39] Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families
    Kraoua, Ichraf
    Jamoussi, Maha
    Drissi, Cyrine
    Kraoua, Lilia
    Drunat, Severine
    Benrhouma, Hanene
    Ben Younes, Thouraya
    Nagi, Sonia
    Abdelhak, Sonia
    Boespflug Tanguy, Odile
    Youssef-Turki, Ilhem Ben
    Trabelsi, Mediha
    Dorboz, Imen
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (10):
  • [40] Recapitulation of POLR3-related hypomyelinating leukodystrophy phenotypes in mice using a PDGFRA-dependent POLR3B exon-loss genetic model
    Michell-Robinson, Mackenzie
    Watt, Kristin
    Grouza, Vladimir
    Macintosh, Julia
    Pinard, Maxime
    Tuznik, Marius
    Chen, Xiaoru
    Darbelli, Lama
    Wu, Chia-Lun
    Perrier, Stefanie
    Chitsaz, Daryan
    Uccelli, Nonthue
    Liu, Hanwen
    Cox, Timothy
    Mueller, Christoph
    Kennedy, Timothy
    Coulombe, Benoit
    Rudko, David
    Trainor, Paul
    Bernard, Genevieve
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455