Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

被引:51
作者
Crosiers, David [2 ,3 ,4 ,5 ]
Ceulemans, Berten [4 ,5 ]
Meeus, Bram [2 ,5 ,6 ]
Nuytemans, Karen [2 ,5 ,6 ]
Pals, Philippe [4 ,5 ]
Van Broeckhoven, Christine [1 ,2 ,6 ]
Cras, Patrick [3 ,4 ,5 ]
Theuns, Jessie [2 ,5 ,6 ]
机构
[1] Univ Antwerp VIB, CDE, Dept Mol Genet, B-2610 Antwerp, Belgium
[2] VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, Antwerp, Belgium
[3] Inst Born Bunge, Neurobiol Lab, Antwerp, Belgium
[4] Univ Antwerp Hosp, Dept Neurol & Child Neurol, Antwerp, Belgium
[5] Univ Antwerp, Antwerp, Belgium
[6] Inst Born Bunge, Neurogenet Lab, Antwerp, Belgium
关键词
ATP13A2; PARK9; Kufor-Rakeb syndrome; Parkinsonism; DISEASE;
D O I
10.1016/j.parkreldis.2010.10.011
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:135 / 138
页数:4
相关论文
共 8 条
  • [1] ALDIN ASN, 1994, ACTA NEUROL SCAND, V89, P347
  • [2] Benamer HTS, 2000, MOVEMENT DISORD, V15, P503, DOI 10.1002/1531-8257(200005)15:3<503::AID-MDS1013>3.0.CO
  • [3] 2-V
  • [4] ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
    Di Fonzo, A.
    Chien, H. F.
    Socal, M.
    Giraudo, S.
    Tassorelli, C.
    Iliceto, G.
    Fabbrini, G.
    Marconi, R.
    Fincati, E.
    Abbruzzese, G.
    Marini, P.
    Squitieri, F.
    Horstink, M. W.
    Montagna, P.
    Dalla Libera, A.
    Stocchi, F.
    Goldwurm, S.
    Ferreira, J. J.
    Meco, G.
    Martignoni, E.
    Lopiano, L.
    Jardim, L. B.
    Oostra, B. A.
    Barbosa, E. R.
    Bonifati, V.
    [J]. NEUROLOGY, 2007, 68 (19) : 1557 - 1562
  • [5] ATP13A2 Variants in Early-Onset Parkinson's Disease Patients and Controls
    Djarmati, Ana
    Hagenah, Johann
    Reetz, Kathrin
    Winkler, Susen
    Behrens, Maria Isabel
    Pawlack, Heike
    Lohmann, Katja
    Ramirez, Alfredo
    Tadic, Vera
    Brueggemann, Norbert
    Berg, Daniela
    Siebner, Hartwig R.
    Lang, Anthony E.
    Pramstaller, Peter P.
    Binkofski, Ferdinand
    Kostic, Vladimir S.
    Volkmann, Jens
    Gasser, Thomas
    Klein, Christine
    [J]. MOVEMENT DISORDERS, 2009, 24 (14) : 2104 - 2111
  • [6] PARK9-linked parkinsonism in eastern Asia:: Mutation detection in ATP13A2 and clinical phenotype
    Ning, Y. P.
    Kanai, K.
    Tomiyama, H.
    Li, Y.
    Funayama, M.
    Yoshino, H.
    Sato, S.
    Asahina, M.
    Kuwabara, S.
    Takeda, A.
    Hattori, T.
    Mizuno, Y.
    Hattori, N.
    [J]. NEUROLOGY, 2008, 70 (16) : 1491 - 1493
  • [7] Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    Ramirez, Alfredo
    Heimbach, Andre
    Gruendemann, Jan
    Stiller, Barbara
    Hampshire, Dan
    Cid, L. Pablo
    Goebel, Ingrid
    Mubaidin, Ammar F.
    Wriekat, Abdul-Latif
    Roeper, Jochen
    Al-Din, Amir
    Hillmer, Axel M.
    Karsak, Meliha
    Liss, Birgit
    Woods, C. Geoffrey
    Behrens, Maria I.
    Kubisch, Christian
    [J]. NATURE GENETICS, 2006, 38 (10) : 1184 - 1191
  • [8] ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation
    Schneider, Susanne A.
    Paisan-Ruiz, Coro
    Quinn, Niall P.
    Lees, Andrew J.
    Houlden, Henry
    Hardy, John
    Bhatia, Kailash P.
    [J]. MOVEMENT DISORDERS, 2010, 25 (08) : 979 - 984