Phenotypes and genetic architecture of focal primary torsion dystonia

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 83, Issue 10, 2012, Pages 1006-1011

  Groen, Justus L ^a   Kallen, Marlot C ^a   Van De Warrenburg, Bart P C ^b   Speelman, J D ^a   Van Hilten, Jacobus J ^c   Aramideh, Majid ^d   Boon, Agnita J W ^e   Klein, Christine ^f   Koelman, Johannes H T M ^a   Langeveld, Ton P ^c   Baas, Frank ^a   De Koning Tijssen, Marina A J ^a,g  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Medical Centre Alkmaar   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF LÜBECK   (Germany)

^g UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BLEPHAROSPASM; CERVICAL DYSTONIA; CLUSTER ANALYSIS; COHORT ANALYSIS; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FOCAL PRIMARY TORSION DYSTONIA; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; MENTAL STRESS; NECK INJURY; NETHERLANDS; ONSET AGE; PAIN; PRIORITY JOURNAL; PROSPECTIVE STUDY; SEX RATIO; SPASMODIC DYSPHONIA; SUBSTANCE ABUSE; TORSION DYSTONIA; TREMOR; WRITER'S CRAMP;

ADULT; AGE OF ONSET; AGED; COHORT STUDIES; DYSTONIC DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MENDELIAN RANDOMIZATION ANALYSIS; MIDDLE AGED; NETHERLANDS; PHENOTYPE; PROSPECTIVE STUDIES; RESEARCH DESIGN; RISK FACTORS;

EID: 84866171527     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2012-302729     Document Type: Article

References (42)

1. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol 199878:1-10.
2. Butler AG, Duffey PO, Hawthorne MR, et al. An epidemiologic survey of dystonia within the entire population of northeast England over the past nine years. Adv Neurol 2004;94:95-9.
3. Singleton A, Hardy J. A generalisable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet 2011;20:R158-62.
4. Munchau A, Valente EM, Davis MB, et al. A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord 2000;15:954-9.
5. Contarino MF, Berger-Plantinga E, Foncke EM, et al. Clinical and genetic characterization of a large Dutch family with primary focal dystonia. Mov Disord 2008;23:1998-2003.
6. Leube B, Rudnicki D, Ratzlaff T, et al. 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;5:1673-7.
7. Valente EM, Bentivoglio AR, Cassetta E, et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol 2001;49:362-6.
8. Norgren N, Mattson E, Forsgren L, et al. A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. Neurogenetics 2011;12:137-43.
9. Xiao J, Zhao Y, Bastian RW, et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010;74:229-38.
10. Groen JL, Ritz K, Contarino MF, et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 2010;25:2420-7.
11. Sharma N, Franco RA Jr, Kuster JK, et al. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia. Mov Disord 2010;25:2183-7.
12. Brancati F, Valente EM, Castori M, et al. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. J Neurol Neurosurg Psychiatry 2003;74:665-6.
13. Risch NJ, Bressman SB, Senthil G, et al. Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007;80:1188-93.
14. Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet Neurol 2006;5:780-90.
15. Groen JL, Yildirim E, Ritz K, et al. THAP1 mutations are infrequent in spasmodic dysphonia. Mov Disord 2011;26:1952-4.
16. Ritz K, Groen JL, Kruisdijk JJ, et al. Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp. Mov Disord 2009;24:1390-2.
17. Meunier S, Bleton JP, Mazevet D, et al. TENS is harmful in primary writing tremor. Clin Neurophysiol 2011;122:171-5.
18. Leube B, Kessler KR, Goecke T, et al. Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord 1997;12:1000-6.
19. Dhaenens CM, Krystkowiak P, Douay X, et al. Clinical and genetic evaluation in a French population presenting with primary focal dystonia. Mov Disord 2005;20:822-5.
20. Peckham EL, Lopez G, Shamim EA, et al. Clinical features of patients with blepharospasm: a report of 240 patients. Eur J Neurol 2011;18:382-6.
21. O'Riordan S, Raymond D, Lynch T, et al. Age at onset as a factor in determining the phenotype of primary torsion dystonia. Neurology 2004;63:1423-6.
22. National Public Health Compass. Parkinson's disease: nationale prevalence, incidence and death. http://www.nationaalkompas.nl/gezondheid-en- ziekte/ziekten-en-aandoeningen/zenuwstelsel-en-zintuigen/ziekte-van-parkinson/ cijfers-ziekte-van-parkinson-prevalentie-incidentie-en-sterfte-uit-de-vtv-2010/ 2012 (accessed 14 May 2012).
23. Defazio G, Aniello MS, Masi G, et al. Frequency of familial aggregation in primary adult-onset cranial cervical dystonia. Neurol Sci 2003;24:168-9.
24. Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009;361:1651-61.
25. Epidemiologic Study of Dystonia in Europe (ESDE) Collaborative Group. Sex-related influences on the frequency and age of onset of primary dystonia. Neurology 1999;53:1871-3.
26. Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000;54:1746-52.
27. Bressman SB, Raymond D, Fuchs T, et al. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009;8:441-6.
28. Maillard L, Ishii K, Bushara K, et al. Mapping the basal ganglia: fMRI evidence for somatotopic representation of face, hand, and foot. Neurology 2000;55:377-83.
29. Delmaire C, Krainik A, Tezenas du MS, et al. Disorganized somatotopy in the putamen of patients with focal hand dystonia. Neurology 2005;64:1391-6.
30. Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol 2000;247:787-92.
31. Miller KM, Okun MS, Fernandez HF, et al. Depression symptoms in movement disorders: comparing Parkinson's disease, dystonia, and essential tremor. Mov Disord 2007;22:666-72.
32. Muller J, Kemmler G, Wissel J, et al. The impact of blepharospasm and cervical dystonia on health-related quality of life and depression. J Neurol 2002;249:842-6.
33. de Graaf R, Ten Have M, van Gool C, et al. Prevalence of mental disorders, and trends from 1996 to 2009. Results from NEMESIS-2 (In Dutch). Tijdschr Psychiatr 2012;54:27-38.
34. Chan J, Brin MF, Fahn S. Idiopathic cervical dystonia: clinical characteristics. Mov Disord 1991;6:119-26.
35. Duane DD. Young age onset of cervical dystonia. Mov Disord 2009;24:632-3.
36. Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov Disord 1998;13(Suppl 3):2-23.
37. Hedera P, Phibbs FT, Fang JY, et al. Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor. BMC Neurol 2010;10:66.
38. Breakefield XO, Blood AJ, Li Y, et al. The pathophysiological basis of dystonias. Nat Rev Neurosci 2008;9:222-34.
39. Martino D, Aniello MS, Masi G, et al. Validity of family history data on primary adult-onset dystonia. Arch Neurol 2004;61:1569-73.
40. Bradley D, Whelan R, Walsh R, et al. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia. Brain 2009;132:2327-35.
41. van der Sluis S, Verhage M, Posthuma D, et al. Phenotypic complexity, measurement bias, and poor phenotypic resolution contribute to the missing heritability problem in genetic association studies. PLoS One 2010;5:e13929.
42. Singleton AB, Hardy J, Traynor BJ, et al. Towards a complete resolution of the genetic architecture of disease. Trends Genet 2010;26:438-42.