Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort

Parkinsonism and Related Disorders

Volumn 19, Issue 6, 2013, Pages 634-638

  Rubio Agusti, I ^a,b   Parees I ^a   Kojovic, M ^a,c   Stamelou, M ^a   Saifee, T A ^a   Charlesworth, G ^a   Sheerin, U M ^a   Edwards, M J ^a   Bhatia, K P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HOSPITAL UNIVERSITARIO LA FE   (Spain)

^c UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

Dystonia; Familial dystonia; Familial tremor; Tremor

Indexed keywords

ADULT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ETHNICITY; FAMILY HISTORY; FEMALE; FOCAL DYSTONIA; GENETIC PREDISPOSITION; GENETIC SCREENING; HEAD TREMOR; HEREDITY; HUMAN; INTERVIEW; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC EXAMINATION; NON TREMULOUS CERVICAL DYSTONIA; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE; TREMOR; TREMULOUS CERVICAL DYSTONIA; YOUNG ADULT; AGED; COHORT ANALYSIS; COMPLICATION; FAMILY HEALTH; GENETICS; MIDDLE AGED; TORTICOLLIS;

ANTIPARKINSON AGENT; BOTULINUM TOXIN;

AGED; ANTI-DYSKINESIA AGENTS; BOTULINUM TOXINS; COHORT STUDIES; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; TORTICOLLIS; TREMOR;

EID: 84891525027     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.02.017     Document Type: Article

References (32)

1. Dauer W.T., Burke R.E., Greene P., Fahn S. Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia. Brain 1998, 121(Pt 4):547-560.
2. Defazio G., Berardelli A., Hallett M. Do primary adult-onset focal dystonias share aetiological factors?. Brain 2007, 130:1183-1193.
3. Leube B., Kessler K.R., 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.
4. Wunderlich S., Reiners K., Gasser T., Naumann M. Cervical dystonia in monozygotic twins: case report and review of the literature. Mov Disord 2001, 16:714-718.
5. Factor S.A. Cervical dystonia in twins. Mov Disord 2002, 17:846-847.
6. Leube B., Rudnicki D., Ratzlaff T., Kessler K.R., 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.
7. Bentivoglio A.R., Ialongo T., Contarino M.F., Valente E.M., Albanese A. Phenotypic characterization of DYT13 primary torsion dystonia. Mov Disord 2004, 19:200-206.
8. Xiao J., Uitti R.J., Zhao Y., Vemula S.R., Perlmutter J.S., Wszolek Z.K., et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012, 71:458-469.
9. Fuchs T., Saunders-Pullman R., Masuho I., Luciano M.S., Raymond D., Factor S., et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2013, 45:88-92.
10. Chan J., Brin M.F., Fahn S. Idiopathic cervical dystonia: clinical characteristics. Mov Disord 1991, 6:119-126.
11. Jankovic J., Leder S., Warner D., Schwartz K. Cervical dystonia: clinical findings and associated movement disorders. Neurology 1991, 41:1088-1091.
12. Pal P.K., Samii A., Schulzer M., Mak E., Tsui J.K. Head tremor in cervical dystonia. Can J Neurol Sci 2000, 27:137-142.
13. Molho E.S., Feustel P.J., Factor S.A. Clinical comparison of tardive and idiopathic cervical dystonia. Mov Disord 1998, 13:486-489.
14. Svetel M., Ivanovic N., Marinkovic J., Jovic J., Dragasevic N., Kostic V.S. Characteristics of dystonic movements in primary and symptomatic dystonias. J Neurol Neurosurg Psychiatry 2004, 75:329-330.
15. Charlesworth G., Plagnol V., Holmstrom K.M., Bras J., Sheerin U.M., Preza E., et al. Mutations in Ano3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012.
16. Albanese A., Asmus F., Bhatia K.P., Elia A.E., Elibol B., Filippini G., et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011, 18:5-18.
17. 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.
18. Deuschl G. Dystonic tremor. Rev Neurol (Paris) 2003, 159:900-905.
19. Jedynak C.P., Bonnet A.M., Agid Y. Tremor and idiopathic dystonia. Mov Disord 1991, 6:230-236.
20. Valente E.M., Edwards M.J., Mir P., DiGiorgio A., Salvi S., Davis M., et al. The epsilon-sarcoglycan gene in myoclonic syndromes. Neurology 2005, 64:737-739.
21. Muller U. The monogenic primary dystonias. Brain 2009, 132:2005-2025.
22. Valente E.M., Warner T.T., Jarman P.R., Mathen D., Fletcher N.A., Marsden C.D., et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998, 121(Pt 12):2335-2339.
23. Winter P., Kamm C., Biskup S., Kohler A., Leube B., Auburger G., et al. DYT7 gene locus for cervical dystonia on chromosome 18p is questionable. Mov Disord 2012.
24. Munchau A., Valente E.M., Davis M.B., Stinton V., Wood N.W., Quinn N.P., et al. A yorkshire family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord 2000, 15:954-959.
25. Uitti R.J., Maraganore D.M. Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993, 8:489-494.
26. Bressman S.B., Warner T.T., Almasy L., Uitti R.J., Greene P.E., Heiman G.A., et al. Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996, 40:681-684.
27. Brancati F., Defazio G., Caputo V., Valente E.M., Pizzuti A., Livrea P., et al. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. Mov Disord 2002, 17:392-397.
28. O'Riordan S., Lynch T., Hutchinson M. Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family. J Neurol 2004, 251:845-848.
29. Jain S., Lo S.E., Louis E.D. Common misdiagnosis of a common neurological disorder: how are we misdiagnosing essential tremor?. Arch Neurol 2006, 63:1100-1104.
30. Schrag A., Munchau A., Bhatia K.P., Quinn N.P., Marsden C.D. Essential tremor: an overdiagnosed condition?. J Neurol 2000, 247:955-959.
31. Groen J.L., Ritz K., Contarino M.F., van de Warrenburg B.P., Aramideh M., Foncke E.M., et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 2010, 25:2420-2427.
32. Martino D., Aniello M.S., Masi G., Lamberti P., Lucchese V., Lamberti S., et al. Validity of family history data on primary adult-onset dystonia. Arch Neurol 2004, 61:1569-1573.