New approaches in dystonia clinical features, genetic issues and pathophysiology;Les nouvelles approches des dystonies (clinique, génétique et hypothèses physio-pathologiques)

Bulletin de l'Academie Nationale de Medecine

Volumn 195, Issue 4-5, 2011, Pages 921-934

  Vidailhet, Marie ^a   Grabli, David ^a  

^a INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

Author keywords

Basal Ganglia Diseases; Cerebellum; Dystonia; Genes; Magnetic Resonance Imaging; Pathological Conditions; Physiology; Signs and Symptoms

Indexed keywords

EID: 84856673853     PISSN: 00014079     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0001-4079(19)32044-8     Document Type: Conference Paper

References (29)

1. FAHN S. - Biochemistry of the basal ganglia. Adv. Neurol, 1976,14, 59-89.
2. BRESSMAN S.B. - Genetics of dystonia : an overview. Parkinsonism & related disorder, 2007,13 Suppl, S347-55.
3. Oz E Lius L.J., BRESSMAN S.B. - Genetic and clinical features of primary torsion dystonia. Neurobiology of disease, 2011,42(2), 127-35.
4. DEFAZIO G., MATARIN M., PECKHAM E.L. et al. - The TORIA polymorphism rsl 182 and the risk of spread in primary blepharospasm. Mov Disord, 2009,24(4), 613-6.
5. ROZE E., SOUMARE A., PIRONNEAU I. et al. - Case-control study of writer's cramp. Brain, 2009, 132(Pt 3), 756-64.
6. SCHMIDT A., JABUSCH H.C., ALTENMULLER E. et al. - Etiology of musician's dystonia : familial or environmental ? Neurology, 2009, 72(14), 1248-54.
7. BREAKEHELD X.O., BLOOD A.J., Li Y., HALLETT M., HANSON P.I., STANDAERT D.G.- The pathophysiological basis of dystonias. Nat Rev Neurosci, 2008, 9(3), 222-34. (Pubitemid 351272666)
8. ZHANG L., YOKOI F., JIN Y.H. et al. - Altered Dendritic Morphology of Purkinje cells in Dytl DeltaGAG Knock-In and Purkinje Cell-Specific Dytl Conditional Knockout Mice. PloS one 2011,(5W,el8357.
9. FREDERIC M.Y., CLOT F., BLANCHARD A., et al. - The p. Asp216His TORIA allele effect is not found in the French population. Mov. Disord, 2009,24(6), 919-21.
10. RISCH N.J., BRESSMAN S.B., SENTHIL G., OZELIUS L.J. - Intragenic Cis and Trans modification of genetic susceptibility in DYTl torsion dystonia. American journal of human genetics, 2007, 80(6),91.
11. BRESSMAN S.B., RAYMOND D., FUCHS T., HEIMAN G.A., OZELIUS L.J., SAUNDERS-PULLMAN R. - Mutations in THAPI (DYT6) in early-onset dystonia : a genetic screening study. Lancet neurology, 2009,8(5), 441-6.
12. DJARMATI A., SCHNEIDER S.A., LOHMANN K. et al. - Mutations in THAPI (DYT6) and generalised dystonia with prominent spasmodic dysphonia : a genetic screening study. Lancet neurology, 2009, 8(5), 447-52.
13. ROZE E., APARTIS E., CLOT F. et al. - Myoclonus-dystonia : clinical and electrophysiologic pattern related to SGCE mutations. Neurology, 2008, 70(13), 1010-6. (Pubitemid 351451308)
14. GRUNEWALD A., DJARMATI A., LOHMANN-HEDRICH K., et al. - Myoclonus-dystonia : significance of large SGCE deletions. Human mutation, 2008,29(2), 331-2.
15. TEZENAS DU MONTCEL S., CLOT F., VIDAILHET M. et al. - Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. Journal of medical genetics, 2006, 43(5), 394-400.
16. GUETTARD E., PORTNOI M.F., LOHMANN-HEDRICH K., et al - Myoclonus-dystonia due to maternal uniparental disomy. Archives of neurology, 2008,65(10), 1380-5.
17. CLOT F., GRABLI D., CAZENEUVE C. et al. - Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 2009,1 3 2 (P17), 753-63.
18. LEU-SEMENESCU S., ARNULF I., DECAIX C. et al. - Sleep and rhythm consequences of a genetically induced loss of serotonin. Sleep, 2010,33(3), 307-14.
19. CALDERON D.P., FREMONT R., KRAENZLIN F., KHODAKHAH K. - The neural substrates of rapid-onset Dystonia-Parkinsonism. Nature neuroscience, 2011,14(3), 357-65.
20. GRABLI D., MCCAIRN K., HIRSCH EC. et al. - Behavioural disorders induced by external globus pallidus dysfunction in primates : I. Behavioural study. Brain, 2004,127(Pt9), 2039-54. (Pubitemid 39150262)
21. NEYCHEV V.K., FAN X., MITEV V.I., HESS E.J., JINNAH H.A. - The basal ganglia and cerebellum interact in the expression of dystonic movement. Brain, 2008,131(Pt 9), 2499-509.
22. EGGER K., MUELLER J., SCHOCKE M. et al. - Voxel based morphometry reveals specific gray matter changes in primary dystonia. Mov. Disord., 2007,22(11), 1538-42. (Pubitemid 47477912)
23. DELMAIRE C., VIDAILHET M., ELBAZ A. et al. - Structural abnormalities in the cerebellum and sensorimotor circuit in writer's cramp. Neurology, 2007,69(4), 376-80. (Pubitemid 47205665)
24. DELMAIRE C., VIDAILHET M., WASSERMANN D. et al. - Diffusion abnormalities in the primary sensorimotor pathways in writer's cramp. Archives of neurology, 2009, 66(4), 502-8.
25. CARBON M., EIDELBERG D. - Abnormal structure-function relationships in hereditary dystonia. Neuroscience, 2009,164(1), 220-9.
26. HUBSCH C., VIDAILHET M., RIVAUD-PECHOUX S. et al. - Impaired saccadic adaptation in DYTI1 dystonia. Journal of neurology, neurosurgery, and psychiatry, 2011.
27. BEUKERS R.J., FONCKE E.M., VAN DER MEER J.N. et al. - Disorganized sensorimotor integration in mutation-positive myoclonus-dystonia : a functional magnetic resonance imaging study. Archives of neurology, 2010,67(4), 469-74.
28. QARTARONE A., SIEBNER H.R., ROTHWELL J.C.- Task-specific h and dystonia : can too much plasticity be bad for you ? Trends in neurosciences, 2006,29(4), 192-9.
29. 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 (Pt 9), 2327-35.