Paroxysmal Kinesigenic Dystonia in a Lesch-Nyhan Disease Variant

被引：3
|
作者：
De la Casa-Fages, Beatriz [1 ]
Perez-Sanchez, Javier R. [1 ]
Grandas, Francisco [1 ]
机构：
[1] Hosp Gen Univ Gregorio Maranon, Movement Disorders Unit, Madrid, Spain
来源：
MOVEMENT DISORDERS CLINICAL PRACTICE | 2014年 / 1卷 / 02期
关键词：
kinesigenic dystonia; paroxysmal; Lesch-Nyhan disease; variant; HPRT gene;
D O I：
10.1002/mdc3.12034
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：123 / 124
页数：2
相关论文
共 50 条
  • [31] Oxidative stress and dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease
    Visser, JE
    Smith, DW
    Moy, SS
    Breese, GR
    Friedmann, T
    Rothstein, JD
    Jinnah, HA
    DEVELOPMENTAL BRAIN RESEARCH, 2002, 133 (02): : 127 - 139
  • [32] Molecular Characterization and Structure Analysis of Hprt in a Chinese Patient with Lesch-Nyhan Disease
    Jian, Wei-Xia
    Peng, Wen-Hui
    Li, Hai-Ling
    Feng, Qi-Wen
    Wang, Wei-Xing
    Su, Qing
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2013, 32 (04) : 189 - 195
  • [33] Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency
    Schretlen, DJ
    Harris, JC
    Park, KS
    Jinnah, HA
    Del Pozo, NO
    JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY, 2001, 7 (07) : 805 - 812
  • [34] Unleashing the Power of Induced Pluripotent stem Cells in in vitro Modelling of Lesch-Nyhan Disease
    Javed, Sundas
    Fersini, Marco
    Bernardini, Giulia
    STEM CELL REVIEWS AND REPORTS, 2025, 21 (02) : 304 - 318
  • [35] A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts
    Paula Escudero-Ferruz
    Neus Ontiveros
    Claudia Cano-Estrada
    Diane J. Sutcliffe
    H. A. Jinnah
    Rosa J. Torres
    José M. López
    Molecular Medicine, 30
  • [36] From genotype to phenotype; clinical variability in Lesch-Nyhan disease. The role of epigenetics
    Trigueros Genao, M.
    Torres, R. J.
    REVISTA CLINICA ESPANOLA, 2014, 214 (08): : 461 - 465
  • [37] Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease
    Visser, Jasper E.
    Chorin, Odelia
    Jinnah, H. A.
    PEDIATRIC NEUROLOGY, 2024, 155 : 156 - 159
  • [38] Levodopa therapy in a Lesch-Nyhan disease patient:: Pathological, biochemical, neuroimaging, and therapeutic remarks
    Serrano, Mercedes
    Perez-Duenas, Belen
    Ormazabal, Aida
    Artuch, Rafael
    Campistol, Jaume
    Torres, Rosa J.
    Garcia-Cazorla, Angels
    MOVEMENT DISORDERS, 2008, 23 (09) : 1297 - 1300
  • [39] Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex
    Thumfart, Julia
    Weschke, Bernhard
    Ringe, Hannelore
    Weinhold, Natalie
    Mueller, Dominik
    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2016, 20 (04) : 649 - 651
  • [40] A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts
    Escudero-Ferruz, Paula
    Ontiveros, Neus
    Cano-Estrada, Claudia
    Sutcliffe, Diane J.
    Jinnah, H. A.
    Torres, Rosa J.
    Lopez, Jose M.
    MOLECULAR MEDICINE, 2024, 30 (01)
12345