THAP1 mutations in a Greek primary blepharospasm series

Parkinsonism and Related Disorders

Volumn 19, Issue 3, 2013, Pages 404-405

  Xiromerisiou, Georgia ^a   Dardiotis, Efthimios ^b   Tsironi, Evangelia E ^c   Hadjigeorgiou, Georgios ^b   Ralli, Styliani ^b   Kara, Eleanna ^a   Petalas, Antonios ^c   Tachmitzi, Sophia ^c   Hardy, John ^a   Houlden, Henry ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF THESSALY   (Greece)

^c GENERAL HOSPITAL OF LARISSA   (Greece)

Author keywords

Blepharospasm; Dystonia; DYT6; Mutations; Phenotype; THAP1

Indexed keywords

MESSENGER RNA;

5' UNTRANSLATED REGION; ADULT; AGED; AMINO ACID SUBSTITUTION; BLEPHAROSPASM; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; GREECE; HETEROZYGOTE; HUMAN; INTRON; LETTER; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; THAP1 GENE;

AGED; AGED, 80 AND OVER; APOPTOSIS REGULATORY PROTEINS; BLEPHAROSPASM; DNA-BINDING PROTEINS; FEMALE; GREECE; HUMANS; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION;

EID: 84874230687     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.08.015     Document Type: Letter

References (5)

1. Defazio G., Martino D., Aniello M.S., Masi G., Abbruzzese G., Lamberti S., et al. A family study on primary blepharospasm. Journal of Neurology Neurosurgery and Psychiatry 2006, 77:252-254.
2. Clarimon J., Brancati F., Peckham E., Valente E.M., Dallapiccola B., Abruzzese G., et al. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Movement Disorders 2007, 22:162-166.
3. Phukan J., Albanese A., Gasser T., Warner T. Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurology [Review] 2011, 10:1074-1085.
4. Xiao J., Zhao Y., Bastian R.W., Perlmutter J.S., Racette B.A., Tabbal S.D., et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010, 74:229-238.
5. Kim H.T., Edwards M.J., Tyson J., Quinn N.P., Bitner-Glindzicz M., Bhatia K.P. Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. Movement Disorders: Official Journal of the Movement Disorder Society [Case Reports] 2007, 22:1328-1331.