Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited

Parkinsonism and Related Disorders

Volumn 21, Issue 10, 2015, Pages 1256-1259

  Dobričić, Valerija ^a   Kresojević, Nikola ^a   Žarković, Milena ^a   Tomić, Aleksandra ^a   Marjanović, Ana ^a   Westenberger, Ana ^b   Cvetković, Dragana ^a   Svetel, Marina ^a   Novaković, Ivana ^a   Kostić, Vladimir S ^a  

^a UNIVERSITY OF BELGRADE   (Serbia)

^b UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Isolated dystonia; Mutation; TOR1A

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CERVICAL DYSTONIA; CHILD; CONTROLLED STUDY; DYSTONIA; DYT1 GENE; FEMALE; FOCAL DYSTONIA; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MIDDLE AGED; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SERBIAN (CITIZEN); SYSTEMATIC REVIEW; TOR1A GENE; CASE REPORT; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDER; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; SERBIA; YOUNG ADULT;

CHAPERONE; TOR1A PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SERBIA; YOUNG ADULT;

EID: 84942191658     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2015.08.001     Document Type: Article

References (12)

1. Klein C. Genetics in dystonia. Park. Relat. Disord. 2014, 20(Suppl. 1):S137-S142.
2. Ozelius L., Lubarr N. DYT1 early-onset primary dystonia. GeneReviews [Internet] 1999 Apr 14, 1993-2015. University of Washington, Seattle (WA), [updated 2014 Jan 02]. R.A. Pagon, M.P. Adam, H.H. Ardinger, S.E. Wallace, A. Amemiya, L.J.H. Bean, T.D. Bird, C.R. Dolan, C.T. Fong, R.J.H. Smith, K. Stephens (Eds.).
3. Calakos N., Patel V.D., Gottron M., Wang G., Tran-Viet K.N., Brewington D., et al. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J. Med. Genet. 2010, 47:646-650.
4. Zirn B., Grundmann K., Huppke P., Puthenparampil J., Wolburg H., Riess O., et al. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT 1). J. Neurol. Neurosurg. Psychiatry 2008, 79:1327-1330.
5. Vulinovic F., Lohmann K., Rakovic A., Capetian P., Alvarez-Fischer D., Schmidt A., et al. Unraveling cellular phenotypes of novel TorsinA/TOR1A mutations. Hum. Mutat. 2014, 35:1114-1122.
6. Cheng F.B., Feng J.C., Ma L.Y., Miao J., Ott T., Wan X.H., et al. Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia. Mov. Disord. 2014, 29:1079-1083.
7. Leung J.C., Klein C., Friedman J., Vieregge P., Jacobs H., Doheny D., et al. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001, 3:133-143.
8. Klein C., Liu L., Doheny D., Kock N., Müller B., de Carvalho Aguiar P., et al. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann. Neurol. 2002, 52:675-679.
9. Kabakci K., Hedrich K., Leung J.C., Mitterer M., Vieregge P., Lencer R., et al. Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004, 62:395-400.
10. Ritz K., Gerrits M.C., Foncke E.M., van Ruissen F., van der Linden C., Vergouwen M.D., et al. Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. J. Neurol. Neurosurg. Psychiatry 2009, 80:653-658.
11. Hettich J., Ryan S.D., de Souza O.N., Saraiva Macedo Timmers L.F., Tsai S., Atai N.A., et al. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A. Hum. Mutat. 2014, 35:1101-1113.
12. Ozelius L.J., Hewett J.W., Page C.E., Bressman S.B., Kramer P.L., Shalish C., et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 1997, 17:40-48.