The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

Movement Disorders

Volumn 24, Issue 4, 2009, Pages 613-616

  Defazio, Giovanni ^a   Matarin, Mar ^b   Peckham, Elizabeth L ^c   Martino, Davide ^a   Valente, Enza M ^d   Singleton, Andrew ^b   Crawley, Anthony ^c   Aniello, Maria Stella ^a   Brancati, Francesco ^d   Abbruzzese, Giovanni ^e   Girlanda, Paolo ^f   Livrea, Paolo ^a   Hallett, Mark ^c   Berardelli, Alfredo ^g  

^a UNIVERSITY OF BARI   (Italy)

^b NATIONAL INSTITUTE ON AGING   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d Mendel Institute   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f UNIVERSITY OF MESSINA   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Blepharospasm; Dystonia; Primary adult onset; Single nucleotide polymorphisms; Spread; TOR1A

Indexed keywords

GENE PRODUCT; PROTEIN TOR1A; TORSIN A; UNCLASSIFIED DRUG; CHAPERONE; TOR1A PROTEIN, HUMAN;

3' UNTRANSLATED REGION; AGED; ARTICLE; BLEPHAROSPASM; CAUCASIAN; CONTROLLED STUDY; DISEASE DURATION; DYSTONIA; FEMALE; FOCAL HAND DYSTONIA; GENE FREQUENCY; GENE MUTATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; CHI SQUARE DISTRIBUTION; COHORT ANALYSIS; GENETIC PREDISPOSITION; GENETICS; ITALY; KAPLAN MEIER METHOD; MIDDLE AGED; MORTALITY; PROPORTIONAL HAZARDS MODEL; RETROSPECTIVE STUDY; RISK FACTOR; UNITED STATES;

AGED; BLEPHAROSPASM; CHI-SQUARE DISTRIBUTION; COHORT STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; KAPLAN-MEIERS ESTIMATE; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; RETROSPECTIVE STUDIES; RISK FACTORS; SENSITIVITY AND SPECIFICITY; UNITED STATES;

EID: 67651165237     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22471     Document Type: Article

References (16)

1. Bressman SB. Dystonia genotypes, phenotypes, and classification. In: Fahn S, Hallett M, DeLong MR, editors. Dystonia 4, Adv neurol vol. 94, Philadelphia: Lippincott Williams & Wilkins; 2004. p 101-107.
2. Clarimon J, Asgeirsson H, Singleton A, et al. Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 2005;57: 765-767.
3. Clarimon J, Brancati F, Peckham E et al. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord 2007;22:162-166.
4. Kamm C, Asmus F, Mueller J, et al. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 2006;67:1857-1859.
5. Hague S, Klaffke S, Clarimon J, et al. Lack of association with TorsinA haplotype in German patients with sporadic dystonia. Neurology 2006;66:951-952.
6. Abbruzzese G, Berardelli A, Girlanda P, et al. Long term assessment of the risk of spread in primary late-onset focal dystonia. J Neurol Neurosurg Psychiatry 2008;79:392-396.
7. Weiss EM, Hershey T, Karimi M, et al. Relative risk of spread of symptoms among the focal onset primary dystonias. Mov Disord 2006;21:1175-1181.
8. Skogseid IM, Kerty E. The course of cervical dystonia and patient satisfaction with long term botulinum toxin A treatment. Eur J Neurol 2005;12:163-170.
9. Bressman SB, Raymond D, Wendt K, et al. Diagnostic criteria for dystonia in DYT1 families. Neurology 2002;59:1780-1782.
10. Wright RA, Ahlskog JE. Focal shoulder-elevation dystonia. Mov Disord 2000;15:709-713.
11. Elble RJ. Diagnostic criteria for essential tremor and differential diagnosis. Neurology 2000;54 (Suppl. 4):S2-S6.
12. Parmar KB, Machin D. Survival analysis: a practical approach. New York: John Wiley; 1995.
13. Landis JR, Koch GG. The measurement of observer agreement for categorical data. Biometrics 1977;33:159-174.
14. Cox DR. Regression models and life tables. J R Stat Soc 1972; 34:187-220.
15. Defazio G, Berardelli A, Abbruzzese G, et al. Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. J Neurol Neurosurg Psychiatry 1999;67:613-619.
16. Defazio G, Abbruzzese G, Livrea P, Berardelli A. Epidemiology of primary dystonia. Lancet Neurol 2004:3:673-678.