Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia

Neurology

Volumn 83, Issue 13, 2014, Pages 1155-1162

  Cilia, Roberto ^a   Reale, Chiara ^b   Castagna, Anna ^c   Nasca, Alessia ^b   Muzi Falconi, Marco ^d   Barzaghi, Chiara ^b   Marzegan, Alberto ^c   Granata, Magda ^d   Marotta, Giorgio ^e   Sacilotto, Giorgio ^a   Vallauri, Davide ^a,f   Pezzoli, Gianni ^a   Goldwurm, Stefano ^a   Garavaglia, Barbara ^b  

^a PARKINSON INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE TRANSPORTER; SARCOGLYCAN;

ADULT; AGED; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL ARTICLE; DYSTONIA; DYT1 GENE; DYT11 GENE; DYT16 GENE; DYT5 GENE; DYT6 GENE; ELECTROPHYSIOLOGY; EXTENSOR MUSCLE; FAMILY HISTORY; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; MYOCLONUS; NIGRONEOSTRIATAL SYSTEM; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSON DISEASE; PRIORITY JOURNAL; SCANS WITHOUT EVIDENCE OF DOPAMINERGIC DEFICIT; SCREENING; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; TREMOR; DYSTONIC DISORDERS; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MUTATION; PROCEDURES; RETROSPECTIVE STUDY;

ADULT; AGED; DYSTONIC DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; RETROSPECTIVE STUDIES; SARCOGLYCANS;

EID: 84921381815     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000821     Document Type: Article

References (37)

1. Hughes AJ, Ben-Shlomo Y, Daniel SE, Lees AJ. What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinicopathologic study. Neurology 1992;42:1142-1146.
2. Hughes AJ, Daniel SE, Ben-Shlomo Y, Lees AJ. The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain 2002;125:861-870.
3. Meara J, Bhowmick BK, Hobson P. Accuracy of diagnosis in patients with presumed Parkinson's disease. Age Ageing 1999;28:99-102.
4. Bajaj NPS, Gontu V, Birchall J, Patterson J, Grosset DG, Lees AJ. Accuracy of clinical diagnosis in tremulous parkinsonian patients: a blinded video study. J Neurol Neurosurg Psychiatry 2010;81:1223-1228.
5. Kupsch AR, Bajaj N, Weiland F, et al. Impact of DaTscan SPECT imaging on clinical management, diagnosis, confidence of diagnosis, quality of life, health resource use and safety in patients with clinically uncertain parkinsonian syndromes: a prospective 1-year follow-up of an open-label controlled study. J Neurol Neurosurg Psychiatry 2012;83: 620-628.
6. Parkinson Study Group. Dopamine transporter brain imaging to assess the effects of pramipexole vs levodopa on Parkinson disease progression. JAMA 2002;287:1653-1661.
7. Whone AL, Watts RL, Stoessl AJ, et al. Slower progression of Parkinson's disease with ropinirole versus levodopa: the REAL-PET study. Ann Neurol 2003;54:93-101.
8. Fahn S; Parkinson Study Group. Does levodopa slow or hasten the rate of progression of Parkinson's disease? J Neurol 2005;252(suppl 4):IV37-IV42.
9. Marek K, Jennings D, Seibyl J. Imaging the dopamine system to assess disease modifying drugs: studies comparing dopamine agonists and levodopa. Neurology 2003;61 (6 suppl 3):S43-S48.
10. 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.
11. Schwingenschuh P, Ruge D, Edwards MJ, et al. Distinguishing SWEDDs patients with asymmetric resting tremor from Parkinson's disease: a clinical and electrophysiological study. Mov Disord 2010;25:560-569.
12. Bain PG. Dystonic tremor presenting as parkinsonism: long-term follow-up of SWEDDs. Neurology 2009;72: 1443-1445.
13. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863-873.
14. Quinn NP, Schneider SA, Schwingenschuh P, Bhatia KP. Tremor: some controversial aspects. Mov Disord 2011;26: 18-23.
15. Morgante F, Klein C. Dystonia. Continuum 2013;19 (5 movement disorders):1225-1241.
16. Erro R, Rubio-Agusti I, Saifee TA, et al. Rest and other types of tremor in adult-onset primary dystonia. J Neurol Neurosurg Psychiatry Epub 2013 Nov 18.
17. Klein C. Genetics in dystonia. Parkinsonism Relat Disord 2014;20(suppl 1):S137-S142.
18. Calvini P, Rodriguez G, Inguglia F, Mignone A, Guerra UP, Nobili F. The basal ganglia matching tools package for striatal uptake semi-quantification: description and validation. Eur J Nucl Med Mol Imaging 2007;34: 1240-1253.
19. Garavaglia B, Invernizzi F, Carbone ML, et al. GTPcyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis 2004;27:455-463.
20. Kägi G, Schwingenschuh P, Bhatia KP. Arm swing is reduced in idiopathic cervical dystonia. Mov Disord 2008;23:1784-1787.
21. de Laat KF, van de Warrenburg BP. Re-emergent tremor in a dystonic SWEDD case. Mov Disord 2012;27:462-463.
22. Foncke EM, Gerrits MC, van Ruissen F, et al. Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. Neurology 2006;67:1677-1680.
23. Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus dystonia syndrome. Nat Genet 2001;29:66-69.
24. Marelli C, Canafoglia L, Zibordi F, et al. A neurophysiological study of myoclonus in patients with DYT11 myoclonusdystonia syndrome. Mov Disord 2008;23:2041-2048.
25. Roze E, Apartis E, Clot F, et al. Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology 2008;70:1010-1016.
26. Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov Disord 1998;13:2-23.
27. van Tricht MJ, Dreissen YE, Cath D, et al. Cognition and psychopathology in myoclonus-dystonia. J Neurol Neurosurg Psychiatry 2012;83:814-820.
28. Peall KJ, Waite AJ, Blake DJ, Owen MJ, Morris HR. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Mov Disord 2011;26:1939-1942.
29. Marshall VL, Patterson J, Hadley DM, Grosset KA, Grosset DG. Two-year follow-up in 150 consecutive cases with normal dopamine transporter imaging. Nucl Med Commun 2006;27:933-937.
30. Hall DA, Jennings D, Seibyl J, Tassone F, Marek K. FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord 2010;16:608-611.
31. Leuzzi V, Carducci C, Cardona F, Artiola C, Antonozzi I. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002;59:1241-1243.
32. Stamelou M, Mencacci NE, Cordivari C, et al. Myoclonusdystonia syndrome due to tyrosine hydroxylase deficiency. Neurology 2012;79:435-441.
33. Luciano MS, Ozelius L, Sims K, Raymond D, Liu L, Saunders-Pullman R. Responsiveness to levodopa in epsilon-sarcoglycan deletions.Mov Disord 2009;24:425-428.
34. Zhang L, Yokoi F, Parsons DS, Standaert DG, Li Y. Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia. PLoS One 2012;7:e33669.
35. Antonini A, Vitale C, Barone P, et al. The relationship between cerebral vascular disease and parkinsonism: the VADO study. Parkinsonism Relat Disord 2012;18:775-780.
36. Tolosa E, Borght TV, Moreno E; DaTSCAN Clinically Uncertain Parkinsonian Syndromes Study Group. Accuracy of DaTSCAN (123I-Ioflupane) SPECT in diagnosis of patients with clinically uncertain parkinsonism: 2-year follow-up of an open-label study. Mov Disord 2007;22: 2346-2351.
37. Perlmutter JS, Eidelberg D. To scan or not to scan: DaT is the question. Neurology 2012;78:88-89.