Differential diagnosis of dystonia

European Journal of Neurology

Volumn 17, Issue SUPPL. 1, 2010, Pages 1-8

  Elia, A E ^a   Lalli, S ^a   Albanese, A ^a,b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

Author keywords

Diagnosis; Dystonia; Genetics; Movement disorders

Indexed keywords

CHOREA; CLINICAL FEATURE; CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; DYSKINESIA; DYSTONIA; ESSENTIAL TREMOR; GENETIC HETEROGENEITY; LABORATORY TEST; MEDICAL ERROR; MYOCLONUS; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; GENETICS; HUMAN; TRINUCLEOTIDE REPEAT;

DIAGNOSIS, DIFFERENTIAL; DYSTONIA; HUMANS; MOLECULAR CHAPERONES; TRINUCLEOTIDE REPEATS;

CHAPERONE; TOR1A PROTEIN, HUMAN;

EID: 77953349523     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2010.03052.x     Document Type: Conference Paper

References (44)

1. Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In : Marsden CD, Fahn S eds. Movement Disorders 2., London: Butterworths, 1987: 332358.
2. Fahn S. Concept and classification of dystonia. Adv Neurol 1988 50 : 1 8.
3. Albanese A. The clinical expression of primary dystonia. J Neurol 2003 250 : 1145 1151.
4. Albanese A, Lalli S. Is this dystonia? Mov Disord 2009 24 : 1725 1731.
5. Geyer HL, Bressman SB. The diagnosis of dystonia. Lancet Neurol 2006 5 : 780 790.
6. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2010 17 : in press.
7. Leegwater-Kim J, Louis ED, Pullman SL, et al. Intention tremor of the head in patients with essential tremor. Mov Disord 2006 21 : 2001 2005.
8. Roze E, Coelho-Braga MC, Gayraud D, et al. Head tremor in Parkinson's disease. Mov Disord 2006 21 : 1245 1248.
9. Grotzsch H, Pizzolato GP, Ghika J, et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002 58 : 1839 1842.
10. Wider C, Melquist S, Hauf M, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology 2008 70 : 1377 1383.
11. Gasser T. Hunting for genes and mutations: it's worth remembering the basics. Neurology 2008 70 : 1373 1374.
12. Bressman SB, de LD, Brin MF, et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann Neurol 1989 26 : 612 620.
13. Cassetta E, Del Grosso N, Bentivoglio AR, Valente EM, Frontali M, Albanese A. Italian family with cranial cervical dystonia: clinical and genetic study. Mov Disord 1999 14 : 820 825.
14. Bressman SB, Raymond D, Wendt K, et al. Diagnostic criteria for dystonia in DYT1 families. Neurology 2002 59 : 1780 1782.
15. 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.
16. Louis ED, Ottman R, Hauser WA. How common is the most common adult movement disorder? estimates of the prevalence of essential tremor throughout the world. Mov Disord 1998 13 : 5 10.
17. Defazio G, Abbruzzese G, Livrea P, Berardelli A. Epidemiology of primary dystonia. Lancet Neurol 2004 3 : 673 678.
18. Opal P, Tintner R, Jankovic J, et al. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord 2002 17 : 339 345.
19. Rivest J, Marsden CD. Trunk and head tremor as isolated manifestations of dystonia. Mov Disord 1990 5 : 60 65.
20. Louis ED, Barnes L, Wendt KJ, et al. A teaching videotape for the assessment of essential tremor. Mov Disord 2001 16 : 89 93.
21. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992 55 : 181 184.
22. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999 56 : 33 39.
23. Tassin J, Durr A, Bonnet AM, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain 2000 6 (Pt 6 1112 1121.
24. Edwards M, Wood N, Bhatia K. Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov Disord 2003 18 : 706 711.
25. Schneider SA, Edwards MJ, Mir P, et al. Patients with adult-onset dystonic tremor resembling parkinsonian tremor have scans without evidence of dopaminergic deficit (SWEDDs). Mov Disord 2007 22 : 2210 2215.
26. Nygaard TG, Marsden CD, Fahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991 41 : 174 181.
27. Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009 24 : 490 499.
28. Vercueil L. Myoclonus and movement disorders. Neurophysiol Clin 2006 36 : 327 331.
29. Gatto EM, Pardal MM, Micheli FE. Unusual phenotypic expression of the DYT1 mutation. Parkinsonism Relat Disord 2003 9 : 277 279.
30. Chinnery PF, Reading PJ, McCarthy EL, Curtis A, Burn DJ. Late-onset axial jerky dystonia due to the DYT1 deletion. Mov Disord 2002 17 : 196 198.
31. Leung JC, Klein C, Friedman J, et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001 3 : 133 143.
32. Nardocci N, Zorzi G, Barzaghi C, et al. Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. Mov Disord 2008 23 : 28 34.
33. Marelli C, Canafoglia L, Zibordi F, et al. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. Mov Disord 2008 23 : 2041 2048.
34. Quinn NP. Essential myoclonus and myoclonic dystonia. Mov Disord 1996 11 : 119 124.
35. Cardoso F, Seppi K, Mair KJ, Wenning GK, Poewe W. Seminar on choreas. Lancet Neurol 2006 5 : 589 602.
36. Schrag A, Quinn NP, Bhatia KP, Marsden CD. Benign hereditary chorea - entity or syndrome? Mov Disord 2000 15 : 280 288.
37. Miyasaki JM, Sa DS, Galvez-Jimenez N, Lang AE. Psychogenic movement disorders. Can J Neurol Sci 2003 30 (Suppl 1 S94 S100.
38. Fahn S, Williams DT. Psychogenic dystonia. Adv Neurol 1988 50 : 431 455.
39. Shill H, Gerber P. Evaluation of clinical diagnostic criteria for psychogenic movement disorders. Mov Disord 2006 21 : 1163 1168.
40. Voon V, Lang AE, Hallett M. Diagnosing psychogenic movement disorders-which criteria should be used in clinical practice? Nat Clin Pract Neurol 2007 3 : 134 135.
41. Lesser RP, Fahn S. Dystonia: a disorder often misdiagnosed as a conversion reaction. Am J Psychiatry 1978 135 : 349 352.
42. Low HL, Honey CR. Focal childhood-onset, action induced primary hip dystonia treated with pallidal deep brain stimulation. Mov Disord 2008 23 : 1926 1928.
43. Bentivoglio AR, Loi M, Valente EM, Ialongo T, Tonali P, Albanese A. Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? Mov Disord 2002 17 : 1058 1063.
44. Abdo WF, van De Warrenburg BP, Burn DJ, Quinn NP, Bloem BR. The clinical approach to movement disorders. Nat Rev Neurol 2010 6 : 29 37.