Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

Movement Disorders

Volumn 25, Issue 13, 2010, Pages 2183-2187

  Sharma, Nutan ^a   Franco Jr , Ramon A ^b   Kuster, John K ^a   Mitchell, Adele A ^c   Fuchs, Tania ^c   Saunders Pullman, Rachel ^c   Raymond, Deborah ^c   Brin, Mitchell F ^d   Blitzer, Andrew ^e   Bressman, Susan B ^c   Ozelius, Laurie J ^f  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^c BETH ISRAEL MEDICAL CENTER   (United States)

^d ALLERGAN INC   (United States)

^e New York Center for Voice and Swallowing Disorders   (United States)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Focal dystonia; Segmental dystonia; Single nucleotide polymorphisms; TorsinA

Indexed keywords

PROTEIN; TOR1A PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; FOCAL DYSTONIA; GENE DELETION; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SEGMENTAL DYSTONIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; DYSTONIC DISORDERS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 78649359143     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23225     Document Type: Article

References (31)

1. Nutt J, Muenter, MD, Aronson, A, Kurland, LT, Melton, LJ. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 1988;3:188-194.
2. ESDE ESoDiEECG. A prevalence study of primary dystonia in eight European countries. J Neurol 2000;247:787-792.
3. Friedman A, Fahn, S. Spontaneous remissions in spasmodic torticollis. Neurology 1986;36:398-400.
4. Grandas F, Elston, J, Quinn, N, Marsden, CD. Blepharospasm: a review of 264 patients. J Neurol Neurosurg Psychiatry 1988;51:767-772.
5. Jankovic J, Ford, J. Blepharospasm and orofacial-cervical dystonia: clinical and pharmacological findings in 100 patients. Ann Neurol 1983;13:402-411.
6. Tolosa E. Clinical features of Meige's disease (idopathic orofacial dystonia): a report of 17 cases. Arch Neurol 1983;38:147-151.
7. Sheehy M, Marsden, CD. Writers' cramp-a focal dystonia. Brain 1982;105:461-480.
8. Waddy H, Fletcher, NA, Harding, AE, Marsden, CD. A genetic study of idiopathic focal dystonias. Ann Neurol 1991;29:320-324.
9. Chan J, Brin, MF, Fahn, S. Idiopathic cervical dystonia: clinical characteristics. Mov Disord 1991;6:119-126.
10. Defazio G, Livrea, P, Guanti, G, Lepore, V, Ferrari, E. Genetic contribution to idopathic adult-onset blepharospasm and cranialcervical dystonia. Eur J Neurol 1993;33:345-350.
11. Leube B, Kessler, KR, Goecke, T, Auburger, G, Benecke, R. Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord 1997;12:1000-1006.
12. Uitti R, Maraganore, DM. Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993;8:489-494.
13. Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 1996;5:1673-1677.
14. Bressman S, Warner TT, Almasy L, et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996;40:681-684.
15. Singleton A, Myers, A, Hardy J. The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Hum Mol Genet 2004;13(Review Issue1):R123-R126.
16. Mueller J, Fuchs J, Hofer A, et al. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 2005;57:535-541.
17. Olson J, Goddard KA, Dudek DM. The amyloid precursor protein locus and very-late-onset Alzheimer disease. Am J Hum Genet 2001;69:895-899.
18. Ozelius L, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
19. Clarimon J, Asgeirsson H, Singleton A, et al. Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol 2005;57:765-767.
20. 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.
21. Sibbing D, Asmus F, Konig IR, et al. Candidate gene studies in focal dystonia. Neurology 2003;61:1097-1101.
22. 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.
23. Kamm CAF, Mueller J, Mayer P, et al. Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 2006;67:1857-1859.
24. Kock N, Naismith TV, Boston HE, et al. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet 2006;15:1355-1364.
25. Risch N, Bressman, SB, Senthil, G, Ozelius, LJ. Intragenic Cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007;80:1188-1193.
26. Kamm C, Fischer H, Garavaglia B, et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008;70:2261-2262.
27. Frederic MY, Clot F, Blanchard A, et al. The pAsp216His TOR1A allele effect is not found in the French Population. Mov Disord 2009;24:919-921.
28. Bruggemann N, Kock N, Lohmann K, et al. The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases? Neurology 209;72:1441-1443.
29. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol 1998;78:1-10.
30. Purcell S NB, Todd-Brown K, Thomas L, et al. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am J Hum Genet 2007;81:559-575.
31. DeFazio G, Matarin M, Peckham EL, et al. The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord 2009;24:613-616.