Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls

Parkinsonism and Related Disorders

Volumn 31, Issue , 2016, Pages 119-123

  Zech, Michael ^a,b   Jochim, Angela ^a   Boesch, Sylvia ^c   Weber, Sandrina ^b   Meindl, Tobias ^a   Peters, Annette ^b   Gieger, Christian ^b   Mueller, Joerg ^c,d   Messner, Michael ^e   Ceballos Baumann, Andres ^e   Poewe, Werner ^c   Haslinger, Bernhard ^a   Winkelmann, Juliane ^a,b,f  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d Vivantes Klinikum Spandau   (Germany)

^e Center for Parkinson's Disease and Movement Disorders Schön Klinik München Schwabing   (Germany)

^f Technische Universität München Munich Cluster for Systems Neurology   (Germany)

Author keywords

Dystonia; DYT1; Gene; Rare variant analysis; TOR1A

Indexed keywords

ALANINE; ASPARAGINE; ISOLEUCINE; METHIONINE; SERINE; THREONINE; VALINE; CHAPERONE; TOR1A PROTEIN, HUMAN;

5' UNTRANSLATED REGION; ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DYSTONIA; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FUNCTION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; TOR1A GENE; ADOLESCENT; BIOLOGY; CAUCASIAN; GENE FREQUENCY; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; GENOTYPE; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COMPUTATIONAL BIOLOGY; DYSTONIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; YOUNG ADULT;

EID: 84979765542     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2016.07.013     Document Type: Article

References (12)

1. [1] Balint, B., Bhatia, K.P., Dystonia: an update on phenomenology, classification, pathogenesis and treatment. Curr. Opin. Neurol. 27 (2014), 468–476.
2. [2] LeDoux, M.S., The genetics of dystonias. Adv. Genet. 79 (2012), 35–85.
3. [3] Dobricic, V., Kresojevic, N., Zarkovic, M., Tomic, A., Marjanovic, A., Westenberger, A., Cvetkovic, D., Svetel, M., Novakovic, I., Kostic, V.S., Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited. Park. Relat. Disord. 21 (2015), 1256–1259.
4. [4] Wichmann, H.E., Gieger, C., Illig, T., Group, M.K.S., KORA-gen–resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen 67:Suppl. 1 (2005), S26–S30.
5. [5] van der Stoep, N., van Paridon, C.D., Janssens, T., Krenkova, P., Stambergova, A., Macek, M., Matthijs, G., Bakker, E., Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum. Mutat. 30 (2009), 899–909.
6. [6] Ozelius, L.J., Page, C.E., Klein, C., Hewett, J.W., Mineta, M., Leung, J., Shalish, C., Bressman, S.B., de Leon, D., Brin, M.F., Fahn, S., Corey, D.P., Breakefield, X.O., The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 62 (1999), 377–384.
7. [7] Calakos, N., Patel, V.D., Gottron, M., Wang, G., Tran-Viet, K.N., Brewington, D., Beyer, J.L., Steffens, D.C., Krishnan, R.R., Zuchner, S., Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J. Med. Genet. 47 (2010), 646–650.
8. [8] LeDoux, M., Vemula, S., Xiao, J., Thompson, M., Perlmutter, J., Wrigth, L., Jinnah, H.A., Rosen, A., Hedera, P., Comella, C., Weissbach, A., Junker, J., Jankovic, J., Barbano, R., Reich, S., Rodriguez, R., Berman, B., Chouinard, S., Severt, L., Agarwal, P., Stover, N., Clinical and genetic features of cervical dystonia in a large multicenter cohort. Neurol. Genet., 2(3), 2016 Apr 11, e69.
9. [9] Xiao, J., Bastian, R.W., Perlmutter, J.S., Racette, B.A., Tabbal, S.D., Karimi, M., Paniello, R.C., Blitzer, A., Batish, S.D., Wszolek, Z.K., Uitti, R.J., Hedera, P., Simon, D.K., Tarsy, D., Truong, D.D., Frei, K.P., Pfeiffer, R.F., Gong, S., Zhao, Y., LeDoux, M.S., High-throughput mutational analysis of TOR1A in primary dystonia. BMC Med. Genet., 10, 2009, 24.
10. [10] Cheng, F.B., Feng, J.C., Ma, L.Y., Miao, J., Ott, T., Wan, X.H., Grundmann, K., Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. Mov. Disord. 29 (2014), 1079–1083.
11. [11] Vulinovic, F., Lohmann, K., Rakovic, A., Capetian, P., Alvarez-Fischer, D., Schmidt, A., Weissbach, A., Erogullari, A., Kaiser, F.J., Wiegers, K., Ferbert, A., Rolfs, A., Klein, C., Seibler, P., Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. Hum. Mutat. 35 (2014), 1114–1122.
12. [12] Zirn, B., Grundmann, K., Huppke, P., Puthenparampil, J., Wolburg, H., Riess, O., Muller, U., Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J. Neurol. Neurosurg. Psychiatry 79 (2008), 1327–1330.