Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?

Movement Disorders

Volumn 29, Issue 7, 2014, Pages 921-927

  Lohmann, Katja ^a   Schmidt, Alexander ^a   Schillert, Arne ^a   Winkler, Susen ^a   Albanese, Alberto ^b   Baas, Frank ^c   Bentivoglio, Anna Rita ^d   Borngräber, Friederike ^a   Brüggemann, Norbert ^a   Defazio, Giovanni ^e   Del Sorbo, Francesca ^b   Deuschl, Günther ^f   Edwards, Mark J ^g   Gasser, Thomas ^h   Gómez Garre, Pilar ⁱ   Graf, Julia ^a   Groen, Justus L ^c   Grünewald, Anne ^a   Hagenah, Johann ^a   Hemmelmann, Claudia ^a   Jabusch, Hans Christian ^j,k   Kaji, Ryuji ^l   Kasten, Meike ^a   Kawakami, Hideshi ^m   Kostic, Vladimir S ⁿ   Liguori, Maria ^o   Mir, Pablo ⁱ   Münchau, Alexander ^a,p   Ricchiuti, Felicia ^e   Schreiber, Stefan ^f   Siegesmund, Katharina ^a   Svetel, Marina ⁿ   Tijssen, Marina A J ^q   Valente, Enza Maria ^r   Westenberger, Ana ^a   Zeuner, Kirsten E ^f   Zittel, Simone ^a,p   Altenmüller, Eckart ^j   Ziegler, Andreas ^a   Klein, Christine ^a   more..

^a UNIVERSITY OF LÜBECK   (Germany)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF BARI   (Italy)

^f UNIVERSITY OF KIEL   (Germany)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h UNIVERSITY OF TÜBINGEN   (Germany)

ⁱ CSIC   (Spain)

^j Hanover University of Music and Drama   (Germany)

^k DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^l UNIVERSITY OF TOKUSHIMA   (Japan)

^m HIROSHIMA UNIVERSITY   (Japan)

ⁿ UNIVERSITY OF BELGRADE   (Serbia)

^o CNR   (Italy)

^p UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^q UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^r CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

more..

Author keywords

Association study; Dystonia; Risk factor; Sulfatase

Indexed keywords

ARYLSULFATASE; ARYLSULFATASE G; UNCLASSIFIED DRUG; ARYLSULFATASE G, HUMAN;

ADULT; ARTICLE; ATTRIBUTABLE RISK; BLEPHAROSPASM; CAUCASIAN; CERVICAL DYSTONIA; CONTROL; CONTROLLED STUDY; ETHNIC GROUP; FOCAL DYSTONIA; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GERMANIC PEOPLE; GERMANY; HETEROZYGOTE; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MUSICIAN'S DYSTONIA; ONSET AGE; PRIORITY JOURNAL; QUALITY CONTROL; SEGMENTAL DYSTONIA; SINGLE NUCLEOTIDE POLYMORPHISM; DYSTONIC DISORDER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; PHYSIOLOGY; PROCEDURES; PSYCHOMOTOR PERFORMANCE; RISK; RISK FACTOR;

ARYLSULFATASES; DYSTONIC DISORDERS; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME-WIDE ASSOCIATION STUDY; HUMANS; PSYCHOMOTOR PERFORMANCE; RISK; RISK FACTORS;

EID: 84902162103     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25791     Document Type: Article

References (31)

1. Lockwood AH. Medical problems of musicians. N Engl J Med 1989;320:221-227.
2. AltenmÜller E, Jabusch HC. Focal dystonia in musicians: phenomenology, pathophysiology and triggering factors. Eur J Neurol 2010;17(Suppl 1):31-36.
3. Frucht SJ, Fahn S, Greene PE, et al. The natural history of embouchure dystonia. Mov Disord 2001;16:899-906.
4. Pullman SL, Hristova AH. Musician's dystonia. Neurology 2005;64:186-187.
5. Jankovic J, Ashoori A. Movement disorders in musicians. Mov Disord 2008;23:1957-1965.
6. http://www.bls.gov/ooh/entertainment-and-sports/musicians-and-singers.htm. 2010.
7. Schmidt A, Jabusch HC, Altenmuller E, et al. Phenotypic spectrum of musician's dystonia: a task-specific disorder? Mov Disord 2011;26:546-549.
8. Torres-Russotto D, Perlmutter JS. Task-specific dystonias: a review. Ann N Y Acad Sci 2008;1142:179-199.
9. Hallett M. Neurophysiology of dystonia: the role of inhibition. Neurobiol Dis 2011;42:177-184.
10. Schmidt A, Jabusch HC, Altenmuller E, et al. Dominantly transmitted focal dystonia in families of patients with musician's cramp. Neurology 2006;67:691-693.
11. Schmidt A, Jabusch HC, Altenmuller E, et al. Etiology of musician's dystonia: familial or environmental? Neurology 2009;72:1248-1254.
12. Stojanovic M, Cvetkovic D, Kostic VS. A genetic study of idiopathic focal dystonias. J Neurol 1995;242:508-511.
13. Waddy H, Fletcher N, Harding A, CDM. A genetic study of idiopathic focal dystonias. Ann Neurol 1991;29:320-324.
14. Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain 2007;130:1183-1193.
15. Klein C, Lohmann K, Ziegler A. The promise and limitations of genome-wide association studies. JAMA 2012:1-2.
16. Brüggemann N, Klein C. Genetics of primary torsion dystonia. Curr Neurol Neurosci Rep 2010;10:199-206.
17. Krawczak M, Nikolaus S, von Eberstein H, Croucher PJ, El Mokhtari NE, Schreiber S. PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Community Genet 2006;9:55-61.
18. Kasten M, Hagenah J, Graf J, et al. Cohort Profile: A population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK). Int J Epidemiol 2013;42:128-128k.
19. Ziegler A. Genome-wide association studies: quality control and population-based measures. Genet Epidemiol 2009;33(Suppl 1):S45-50.
20. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575.
21. Steffens M, Lamina C, Illig T, et al. SNP-based analysis of genetic substructure in the German population. Hum Hered 2006;62:20-29.
22. Nelis M, Esko T, Magi R, et al. Genetic structure of Europeans: a view from the North-East. PLoS One 2009;4:e5472.
23. Lao O, Lu TT, Nothnagel M, et al. Correlation between genetic and geographic structure in Europe. Curr Biol 2008;18:1241-1248.
24. Samani NJ, Erdmann J, Hall AS, et al. Genomewide association analysis of coronary artery disease. N Engl J Med 2007;357:443-453.
25. Ziegler A, Van Steen K, Wellek S. Investigating Hardy-Weinberg equilibrium in case-control or cohort studies or meta-analysis. Breast Cancer Res Treat 2011;128:197-201.
26. Sardiello M, Annunziata I, Roma G, Ballabio A. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Hum Mol Genet 2005;14:3203-3217.
27. Ferrante P, Messali S, Meroni G, Ballabio A. Molecular and biochemical characterisation of a novel sulphatase gene: arylsulfatase G (ARSG). Eur J Hum Genet 2002;10:813-818.
28. Ratzka A, Mundlos S, Vortkamp A. Expression patterns of sulfatase genes in the developing mouse embryo. Dev Dyn 2010;239:1779-1788.
29. Abitbol M, Thibaud JL, Olby NJ, et al. A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 2010;107:14775-14780.
30. Kowalewski B, Lamanna WC, Lawrence R, et al. Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A 2012;109:10310-10315.
31. Pruim RJ, Welch RP, Sanna S, et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 2010;26:2336-2337.