Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia

被引:8
|
作者
Furukawa, Yoshiaki [1 ,2 ]
Kish, Stephen J. [3 ,4 ,5 ]
机构
[1] Juntendo Tokyo Koto Geriatr Med Ctr, Dept Neurol, Tokyo 1360075, Japan
[2] Univ & Postgrad Univ Juntendo, Fac Med, Dept Neurol, Tokyo, Japan
[3] Ctr Addict & Mental Hlth, Res Imaging Ctr, Human Brain Lab, Toronto, ON, Canada
[4] Univ Toronto, Dept Psychiat, Toronto, ON, Canada
[5] Univ Toronto, Dept Pharmacol, Toronto, ON, Canada
关键词
TYROSINE-HYDROXYLASE; BRAIN BIOPTERIN; I GENE; MUTATION; DISEASE; FAMILY; ONSET; PET;
D O I
10.1093/brain/awu325
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
页码:E351 / U18
页数:3
相关论文
共 50 条
  • [21] Multiple transcripts due to alternative splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia
    Hirano, M
    Imaiso, Y
    Ueno, S
    ANNALS OF NEUROLOGY, 1997, 42 (03) : M59 - M59
  • [22] A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping
    Skrygan, M
    Bartholomé, B
    Bonafé, L
    Blau, N
    Bartholomé, K
    JOURNAL OF INHERITED METABOLIC DISEASE, 2001, 24 (03) : 345 - 351
  • [23] Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia
    Hirano, M
    Yanagihara, T
    Ueno, S
    ANNALS OF NEUROLOGY, 1998, 44 (03) : 365 - 371
  • [24] A novel missense mutation of the GTP cyclohydrolase 1 gene in a Taiwanese family with dopa-responsive dystonia: A case report
    Yang, Chen-Chih
    Wang, Wei-Chung
    Yeh, Tu-Hsueh
    Chen, Tzu-Hsuan
    Liu, Yen-Liang
    Lu, Ming-Kuei
    Lu, Chin-Song
    Tsai, Chon-Haw
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2018, 165 : 21 - 23
  • [25] Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: A case report
    Kikuchi, A
    Takeda, A
    Fujihara, K
    Kimpara, T
    Shiga, Y
    Tanji, H
    Nagai, M
    Ichinose, H
    Urano, F
    Okamura, N
    Arai, H
    Itoyama, Y
    MOVEMENT DISORDERS, 2004, 19 (05) : 590 - 593
  • [26] A novel missense mutation of the GTP cyclohydrolase I gene in a Korean family with hereditary progressive dystonia/dopa-responsive dystonia
    Kang, JH
    Kang, SY
    Kang, HK
    Koh, YS
    Im, JH
    Lee, MC
    BRAIN & DEVELOPMENT, 2004, 26 (05): : 287 - 291
  • [27] Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia
    Theuns, Jessie
    Crosiers, David
    Debaene, Luc
    Nuytemans, Karen
    Meeus, Bram
    Sleegers, Kristel
    Goossens, Dirk
    Corsmit, Ellen
    Elinck, Ellen
    Peeters, Karin
    Mattheijssens, Maria
    Pickut, Barbara
    Del-Favero, Jurgen
    Engelborghs, Sebastiaan
    De Deyn, Peter Paul
    Cras, Patrick
    Van Broeckhoven, Christine
    MOVEMENT DISORDERS, 2012, 27 (11) : 1451 - 1456
  • [28] Three novel mutations in the GTP cyclohydrolase I gene in 3 Japanese families with dopa-responsive dystonia
    Ueno, S
    Hirano, M
    Tamaru, Y
    Imai, T
    Kawamura, J
    ANNALS OF NEUROLOGY, 1996, 40 (03) : T185 - T185
  • [29] GTP Cyclohydrolase I and Tyrosine Hydroxylase Gene Mutations in Familial and Sporadic Dopa-Responsive Dystonia Patients
    Cai, Chunyou
    Shi, Wentao
    Zeng, Zheng
    Zhang, Meiyun
    Ling, Chao
    Chen, Lei
    Cai, Chunquan
    Zhang, Benshu
    Li, Wei-Dong
    PLOS ONE, 2013, 8 (06):
  • [30] Cognitive and psychiatric phenotype in a family with autosomal dominant dopa-responsive dystonia secondary to GTP cyclohydrolase deficiency
    Cummins, G.
    Barker, R. A.
    MOVEMENT DISORDERS, 2014, 29 : S494 - S495