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
  • [1] Lesch-Nyhan disease
    Nyhan, W. L.
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2008, 27 (6-7) : 559 - 563
  • [2] TRANSCRIPTOMIC APPROACH TO LESCH-NYHAN DISEASE
    Dauphinot, Luce
    Mockel, Lionel
    Cahu, Julie
    Jinnah, H. A.
    Ledroit, Morgan
    Potier, Marie-Claude
    Ceballos-Picot, Irene
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2014, 33 (4-6) : 208 - 217
  • [3] Dopamine function in Lesch-Nyhan disease
    Nyhan, WL
    ENVIRONMENTAL HEALTH PERSPECTIVES, 2000, 108 : 409 - 411
  • [4] Lesch-Nyhan disease and the basal ganglia
    Visser, JE
    Bär, PR
    Jinnah, HA
    BRAIN RESEARCH REVIEWS, 2000, 32 (2-3) : 449 - 475
  • [5] DOES THE BEHAVIOURAL PHENOTYPE OF LESCH-NYHAN DISEASE/LESCH NYHAN VARIANT DISORDER CORRELATE BEST WITH HPRT OR GPRT ENZYME ACTIVITY?
    Harris, J. C.
    Ward, R.
    Callon, W.
    Fu, R.
    Jinnah, H.
    Schretlen, D.
    JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2015, 59 (09) : 792 - 792
  • [6] Levodopa is Not a Useful Treatment for Lesch-Nyhan Disease
    Visser, Jasper E.
    Schretlen, David J.
    Bloem, Bastiaan R.
    Jinnah, Hyder A.
    MOVEMENT DISORDERS, 2011, 26 (04) : 746 - 749
  • [7] Lesch-Nyhan Disease and Related Disorders of Purine Metabolism
    Nyhan, William L.
    TZU CHI MEDICAL JOURNAL, 2007, 19 (03): : 105 - 108
  • [8] Adrenergic and noradrenergic plasma levels in Lesch-Nyhan disease
    Ernst, M
    Zametkin, AJ
    Pascualvaca, D
    Matochik, JA
    Eisenhofer, G
    Murphy, DL
    Cohen, RM
    NEUROPSYCHOPHARMACOLOGY, 2000, 22 (03) : 320 - 326
  • [9] Microstructural white matter abnormalities in Lesch-Nyhan disease
    Del Bene, Victor A.
    Crawford, Jeffrey L.
    Gomez-Gastiasoro, Ainara
    Vannorsdall, Tracy D.
    Buchholz, Alison
    Ojeda, Natalia
    Harris, James C.
    Jinnah, Hyder A.
    Schretlen, David J.
    EUROPEAN JOURNAL OF NEUROSCIENCE, 2022, 55 (01) : 264 - 276
  • [10] Adrenergic and Noradrenergic Plasma Levels in Lesch-Nyhan Disease
    Monique Ernst
    Alan J Zametkin
    Daisy Pascualvaca
    John A Matochik
    Graeme Eisenhofer
    Dennis L Murphy
    Robert M Cohen
    Neuropsychopharmacology, 2000, 22 : 320 - 326