Mutations in CIZ1 are not a major cause for dystonia in Germany

Movement Disorders

Volumn 30, Issue 5, 2015, Pages 740-743

  Dufke, Claudia ^a   Hauser, Ann Kathrin ^a,b   Sturm, Marc ^a   Fluhr, Susanne ^a   Wächter, Tobias ^b,c   Leube, Barbara ^d   Auburger, Georg ^e   Ott, Thomas ^a   Bauer, Peter ^a   Gasser, Thomas ^a,b   Grundmann, Kathrin ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c Center of Rehabilitation   (Germany)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^e GOETHE UNIVERSITY MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CIZ1 PROTEIN; GLUTAMINE; UNCLASSIFIED DRUG; CIZ1 PROTEIN, HUMAN; NUCLEAR PROTEIN;

CERVICAL DYSTONIA; DYSTONIA; GENE MUTATION; GENERALIZED DYSTONIA; GERMANY; HUMAN; LETTER; MOTOR DYSFUNCTION; MUSCLE CONTRACTION; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; PUBLICATION; SINGLE NUCLEOTIDE POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETICS; MALE; MUTATION;

DYSTONIA; FEMALE; GENE FREQUENCY; GERMANY; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS;

EID: 84926668264     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26198     Document Type: Letter

References (7)

1. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol 1998;78:1-10.
2. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863-873.
3. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet 1997;17:40-48.
4. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009;41:286-288.
5. Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012;71:458-469.
6. Cip1/Waf1-interacting zinc finger protein, Ciz1. Biochem Biophys Res Commun 1999;264:457-464.
7. Ma L, Chen R, Wang L, Yang Y, Wan X. No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families. Mov Disord 2013; e-pub ahead of print; DOI: 10.1002/mds.25542.