POLR3A-Related Disorder Presenting with Late-Onset Dystonia and Spastic Paraplegia

被引:7
|
作者
Matos, Paula Camila Alves de Assis Pereira [1 ]
Gama, Maria Thereza Drumond [1 ]
Bezerra, Marcio Luiz Escorcio [2 ]
da Rocha, Antonio Jose [3 ]
Barsottini, Orlando G. P. [1 ]
Pedroso, Jose Luiz [1 ]
机构
[1] Univ Fed Sao Paulo, Dept Neurol, Ataxia Unit, Sao Paulo, Brazil
[2] Univ Fed Sao Paulo, Dept Neurophysiol, Sao Paulo, Brazil
[3] Fac Ciencias Med Santa Casa Sao Paulo, Dept Radiol, Sao Paulo, Brazil
来源
关键词
ataxias; atypical parkinsonism; rare diseases; neurodegeneration with brain iron acculumation (NBIA); POLR3A; MUTATIONS;
D O I
10.1002/mdc3.12945
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:467 / 469
页数:3
相关论文
共 50 条
  • [1] Neuropsychological profile of POLR3A-related spastic ataxia
    Cypers, Gert
    Delaruelle, Zoe
    Van den Stock, Jan
    NEUROLOGICAL SCIENCES, 2025, 46 (03) : 1383 - 1387
  • [2] Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia
    Morales-Rosado, Joel A.
    Macke, Erica L.
    Cousin, Margot A.
    Oliver, Gavin R.
    Dhamija, Radhika
    Klee, Eric W.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (09):
  • [3] HEREDITARY SPASTIC PARAPLEGIA - A FAMILY WITH LATE-ONSET
    SCHOLZ, J
    KESSLER, C
    AKTUELLE NEUROLOGIE, 1994, 21 (05) : 188 - 190
  • [4] Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D
    Maechtel, Rebecca
    Dobert, Jan-Philipp
    Hehr, Ute
    Weiss, Alexander
    Kettwig, Matthias
    Laugwitz, Lucia
    Groeschel, Samuel
    Schmidt, Manuel
    Arnold, Philipp
    Regensburger, Martin
    Zunke, Friederike
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2024, 11 (07): : 1715 - 1731
  • [5] POLR3A-related spastic ataxia: new mutations and a look into the phenotype
    Jon Infante
    Karla M. Serrano-Cárdenas
    Marc Corral‐Juan
    Xavier Farré
    Ivelisse Sánchez
    Enrique M. de Lucas
    Antonio García
    José Luis Martín-Gurpegui
    José Berciano
    Antoni Matilla-Dueñas
    Journal of Neurology, 2020, 267 : 324 - 330
  • [6] POLR3A-related spastic ataxia: new mutations and a look into the phenotype
    Infante, Jon
    Serrano-Cardenas, Karla M.
    Corral-Juan, Marc
    Farre, Xavier
    Sanchez, Ivelisse
    de Lucas, Enrique M.
    Garcia, Antonio
    Luis Martin-Gurpegui, Jose
    Berciano, Jose
    Matilla-Duenas, Antoni
    JOURNAL OF NEUROLOGY, 2020, 267 (02) : 324 - 330
  • [7] Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia
    Sytsma, Trevor M.
    Chen, Dong-Hui
    Rolf, Bradley
    Dorschner, Michael
    Jayadev, Suman
    Keene, C. Dirk
    Zhang, Jing
    Bird, Thomas D.
    Latimer, Caitlin S.
    NEUROPATHOLOGY, 2022, 42 (01) : 58 - 65
  • [8] LATE-ONSET PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY WITH SPASTIC PARAPLEGIA
    Celmeli, Fatih
    la Marca, Giancarlo
    Santisteban, Ines
    Hershfield, Michael S.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 (06) : 717 - 718
  • [9] POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation
    Yau, Wai Yan
    Ashton, Catherine
    Mulroy, Eoin
    Foltynie, Thomas
    Limousin, Patricia
    Vandrovcova, Jana
    Verma, Kunal P.
    Stell, Rick
    Davis, Mark
    Lamont, Phillipa
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2024, 11 (06): : 1636 - 1642
  • [10] POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
    Infante, J.
    Serrano, K. M.
    Marco-de Lucas, E.
    Sanchez-Rodriguez, A.
    Berciano, J.
    Corral, M.
    Farre, X.
    Matilla, A.
    MOVEMENT DISORDERS, 2019, 34 : S104 - S104