Skip to main content

Advertisement

SpringerLink
Log in

Does the network model fits neurophysiological abnormalities in blepharospasm?

  • Review Article
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

Several neurophysiological abnormalities have been described in blepharospasm, including loss of inhibition in sensorimotor pathways at cortical and brainstem level and abnormalities of sensory processing. These changes have traditionally been linked to a basal ganglia dysfunction. However, this interpretation has recently been questioned and alternative pathophysiological model positing that dystonia is a network disorder has been proposed. On the basis of available information, we can speculate that loss of inhibition at cortical and brainstem level and abnormalities of sensory processing in blepharospasm probably reflect the functional derangement of a network involving frontal and parietal cortical areas, basal ganglia, thalamus, and, possibly, the cerebellum.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, Galpern WR, Hallett M, Ludlow CL, Perlmutter JS, Rosen AR (2013) Dystonia coalition investigators, the focal dystonias: current views and challenges for future research. Mov Disord 28:926–943. https://doi.org/10.1002/mds.25567

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Peckham EL, Lopez G, Shamim EA, Richardson SP, Sanku S, Malkani R, Stacy M, Mahant P, Crawley A, Singleton A, Hallett M (2011) Clinical features of patients with blepharospasm: a report of 240 patients. Eur J Neurol 18:382–386. https://doi.org/10.1111/j.1468-1331.2010.03161.x

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK (2013) Phenomenology and classification of dystonia: a consensus update. Mov Disord 28:863–873. https://doi.org/10.1002/mds.25475

    Article  PubMed  PubMed Central  Google Scholar 

  4. Defazio G, Hallett M, Jinnah HA, Stebbins GT, Gigante AF, Ferrazzano G, Conte A, Fabbrini G, Berardelli A (2015) Development and validation of a clinical scale for rating the severity of blepharospasm. Mov Disord 30:525–530. https://doi.org/10.1002/mds.26156

    Article  PubMed  PubMed Central  Google Scholar 

  5. Martino D, Defazio G, Alessio G, Abbruzzese G, Girlanda P, Tinazzi M, Fabbrini G, Marinelli L, Majorana G, Buccafusca M, Vacca L, Livrea P, Berardelli A (2005) Relationship between eye symptoms and blepharospasm: a multicenter case-control study. Mov Disord 20:1564–1570. https://doi.org/10.1002/mds.20635

    Article  PubMed  Google Scholar 

  6. Bentivoglio AR, Daniele A, Albanese A, Tonali PA, Fasano A (2006) Analysis of blink rate in patients with blepharospasm. Mov Disord 21:1225–1229. https://doi.org/10.1002/mds.20889

    Article  PubMed  Google Scholar 

  7. Martino D, Liuzzi D, Macerollo A, Aniello MS, Livrea P, Defazio G (2010) The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia. Mov Disord 25:407–412. https://doi.org/10.1002/mds.23011

    Article  PubMed  Google Scholar 

  8. Boghen D (1997) Apraxia of lid opening: a review. Neurology 48:1491–1494. https://doi.org/10.1212/wnl.48.6.1491

    Article  CAS  PubMed  Google Scholar 

  9. Abbruzzese G, Berardelli A, Girlanda P, Marchese R, Martino D, Morgante F, Avanzino L, Colosimo C, Defazio G (2008) Long-term assessment of the risk of spread in primary late-onset focal dystonia. J Neurol Neurosurg Psychiatry 79:392–396. https://doi.org/10.1136/jnnp.2007.124594

    Article  CAS  PubMed  Google Scholar 

  10. Fabbrini G, Berardelli I, Moretti G, Pasquini M, Colosimo C, Berardelli A (2011) Nonmotor symptoms in adult-onset focal dystonia: psychiatric abnormalities. Mov Disord 26:1765–1766. https://doi.org/10.1002/mds.23668

    Article  PubMed  Google Scholar 

  11. Romano R, Bertolino GA, Martino D, Livrea P, Defazio G (2014) Impaired cognitive functions in adult-onset primary cranial cervical dystonia. Parkinsonism Relat Disord 20:162–165. https://doi.org/10.1016/j.parkreldis.2013.10.008

    Article  PubMed  Google Scholar 

  12. Cavalheiro S, da Costa MDS, Schaurich CG, Cappellano AM, Saba-Silva N, de Seixas Alves MT, Stavale JN (2019) An 8-year-old girl with blepharospasm and left thalamic tumor. Brain Pathol 29:457–458. https://doi.org/10.1111/bpa.12725

    Article  PubMed  Google Scholar 

  13. Singer C, Schatz NJ, Bowen B, Eidelberg D, Kazumata K, Sternau L, Shulman LM, Weiner WJ (1998) Asymmetric predominantly ipsilateral blepharospasm and contralateral parkinsonism in an elderly patient with a right mesencephalic cyst. Mov Disord 13:135–139. https://doi.org/10.1002/mds.870130125

    Article  CAS  PubMed  Google Scholar 

  14. Persing JA, Muir A, Becker DG, Jankovic JJ, Anderson RL, Edlich RF (1990) Blepharospasm-oromandibular dystonia associated with a left cerebellopontine angle meningioma. J Emerg Med 8:571–574. https://doi.org/10.1016/0736-4679(90)90452-2

    Article  CAS  PubMed  Google Scholar 

  15. Yin Foo Lee G, Scott G, Blumbergs PC, Patrick Brophy B, Lionel Crompton J (2001) Ganglioglioma of the lateral ventricle presenting with blepharospasm - case report and review of the literature. J Clin Neurosci 8:279–282. https://doi.org/10.1054/jocn.1999.0770

    Article  CAS  PubMed  Google Scholar 

  16. Lambrecq V, Sibon I, Loiseau H, Jeannin S, Dousset V, Rotgé JY, Guehl D, Burbaud P (2010) Acute blepharospasm and torticollis associated with an ependymoma of the lateral ventricle. Mov Disord 25:653–655. https://doi.org/10.1002/mds.22984

    Article  PubMed  Google Scholar 

  17. Leenders KL, Frackowiak RS, Quinn N, Brooks D, Sumner D, Marsden CD (1986) Ipsilateral blepharospasm and contralateral hemidystonia and parkinsonism in a patient with a unilateral rostral brainstem-thalamic lesion: structural and functional abnormalities studied with CT, MRI, and PET scanning. Mov Disord 1:51–58. https://doi.org/10.1002/mds.870010107

    Article  CAS  PubMed  Google Scholar 

  18. Aramideh M, Ongerboer de Visser BW, Holstege G, Majoie CB, Speelman JD (1996) Blepharospasm in association with a lower pontine lesion. Neurology 46:476–478. https://doi.org/10.1212/wnl.46.2.476

    Article  CAS  PubMed  Google Scholar 

  19. Jankovic J, Patel SC (1983) Blepharospasm associated with brainstem lesions. Neurology 33:1237–1240. https://doi.org/10.1212/wnl.33.9.1237

    Article  CAS  PubMed  Google Scholar 

  20. Awada A (1997) Blepharospasm caused by bilateral paramedian thalamic infarction. Rev Neurol 153:62–64

    CAS  PubMed  Google Scholar 

  21. Powers JM (1985) Blepharospasm due to unilateral diencephalon infarction. Neurology 35:283–284. https://doi.org/10.1212/wnl.35.2.283-b

    Article  CAS  PubMed  Google Scholar 

  22. Keane JR, Young JA (1985) Blepharospasm with bilateral basal ganglia infarction. Arch Neurol 42:1206–1208. https://doi.org/10.1001/archneur.1985.04060110088025

    Article  CAS  PubMed  Google Scholar 

  23. Palakurthy PR, Iyer V (1987) Blepharospasm accompanying hypoxic encephalopathy. Mov Disord 2:131–134. https://doi.org/10.1002/mds.870020208

    Article  CAS  PubMed  Google Scholar 

  24. Kirton CA, Riopelle RJ (2001) Meige syndrome secondary to basal ganglia injury: a potential cause of acute respiratory distress. Can J Neurol Sci 28:167–173. https://doi.org/10.1017/s0317167100052896

    Article  CAS  PubMed  Google Scholar 

  25. Velnar T, Ravnik J, Bunc G (2012) Resolution of blepharospasm after chronic subdural haematoma evacuation: a case report. Wien Klin Wochenschr 124:204–206. https://doi.org/10.1007/s00508-012-0124-2

    Article  PubMed  Google Scholar 

  26. Gilbert AL, Dillon WP, Horton JC (2012) Blepharospasm in a patient with pontine capillary telangiectasia. Ophthalmic Plast Reconstr Surg 28:92–93. https://doi.org/10.1097/IOP.0b013e3182364aa5

    Article  Google Scholar 

  27. Grandas F, López-Manzanares L, Traba A (2004) Transient blepharospasm secondary to unilateral striatal infarction. Mov Disord 19:1100–1102. https://doi.org/10.1002/mds.20109

    Article  PubMed  Google Scholar 

  28. Larumbe R, Vaamonde J, Artieda J, Zubieta JL, Obeso JA (1993) Reflex blepharospasm associated with bilateral basal ganglia lesion. Mov Disord 8:198–200. https://doi.org/10.1002/mds.870080215

    Article  CAS  PubMed  Google Scholar 

  29. Kulisevsky J, Avila A, Roig C, Escartín A (1993) Unilateral blepharospasm stemming from a thalamomesencephalic lesion. Mov Disord 8:239–240. https://doi.org/10.1002/mds.870080230

    Article  CAS  PubMed  Google Scholar 

  30. Miranda M, Millar A (1998) Blepharospasm associated with bilateral infarcts confined to the thalamus: case report. Mov Disord 13:616–617. https://doi.org/10.1002/mds.870130347

    Article  CAS  PubMed  Google Scholar 

  31. Lal V, Thussu A, Parihar PS, Sawhney IM, Prabhakar S (1998) Unusual manifestations of thalamic strokes. J Assoc Physicians India 46:559–561

    CAS  PubMed  Google Scholar 

  32. Algoed L, Janssens J, Vanhooren G (1992) Apraxia of eyelid opening secondary to right frontal infarction. Acta Neurol Belg 92:228–233

    CAS  PubMed  Google Scholar 

  33. Johnston JC, Rosenbaum DM, Picone CM, Grotta JC (1989) Apraxia of eyelid opening secondary to right hemisphere infarction. Ann Neurol 25:622–624. https://doi.org/10.1002/ana.410250615

    Article  CAS  PubMed  Google Scholar 

  34. O’Rourke K, O'Riordan S, Gallagher J, Hutchinson M (2006) Paroxysmal torticollis and blepharospasm following bilateral cerebellar infarction. J Neurol 253:1644–1645. https://doi.org/10.1007/s00415-006-0202-3

    Article  PubMed  Google Scholar 

  35. Gibb WR, Lees AJ, Marsden CD (1988) Pathological report of four patients presenting with cranial dystonias. Mov Disord 3:211–221. https://doi.org/10.1002/mds.870030305

    Article  CAS  PubMed  Google Scholar 

  36. Lang AE, Sharpe JA (1984) Blepharospasm associated with palatal myoclonus and communicating hydrocephalus. Neurology 34:1522

    Article  Google Scholar 

  37. Wali GM (2001) Asymmetrical blepharospasm associated with a left frontal cortical infarct. Mov Disord 16:181–182. https://doi.org/10.1002/1531-8257(200101)16:1%3C181::aid-mds1036%3E3.0.co;2-c

    Article  CAS  PubMed  Google Scholar 

  38. Lee SS, Lee HS (2011) Can subcortical infarction cause apraxia of eyelid opening? J Clin Neurosci 18:1399–1400. https://doi.org/10.1016/j.jocn.2010.12.055

    Article  PubMed  Google Scholar 

  39. Kim MJ, Kim SJ, Kim BR, Lee J (2014) Apraxia of eyelid opening after brain injury: a case report. Ann Rehabil Med 38:847–851. https://doi.org/10.5535/arm.2014.38.6.847

    Article  PubMed  PubMed Central  Google Scholar 

  40. Jacob PC, Chand RP (1995) Blepharospasm and jaw closing dystonia after parietal infarcts. Mov Disord 10:794–795. https://doi.org/10.1002/mds.870100614

    Article  CAS  PubMed  Google Scholar 

  41. Jankovic J (1986) Blepharospasm with basal ganglia lesions. Arch Neurol 43:866–868. https://doi.org/10.1001/archneur.1986.00520090006004

    Article  CAS  PubMed  Google Scholar 

  42. Sandyk R, Gillman MA (1984) Blepharospasm associated with communicating hydrocephalus. Neurology 34:1522–1523

    Article  Google Scholar 

  43. Day TJ, Lefroy RB, Mastaglia FL (1986) Meige’s syndrome and palatal myoclonus associated with brain. J Neurol Neurosurg Psychiatry 49:1324–1325. https://doi.org/10.1136/jnnp.49.11.1324

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  44. Herraiz J, Roquer J, Escudero D, Maso E (1988) Meige’s syndrome and bilateral pallidal calcification. J Neurol 235:384. https://doi.org/10.1007/bf00314242

    Article  CAS  PubMed  Google Scholar 

  45. Blin O, Masson G, Serratrice G (1991) Blepharospasm associated with pseudohypoparathyroidism and bilateral basal ganglia calcifications. Mov Disord 6:379. https://doi.org/10.1002/mds.870060422

    Article  CAS  PubMed  Google Scholar 

  46. Verghese J, Milling C, Rosenbaum DM (1999) Ptosis, blepharospasm, and apraxia of eyelid opening secondary to putaminal hemorrhage. Neurology 53:652. https://doi.org/10.1212/wnl.53.3.652-a

    Article  CAS  PubMed  Google Scholar 

  47. Jiménez-Jiménez FJ, Molina-Arjona JA, Roldán-Montaud A, Agullá A, Santos J, Fernández-Ballesteros A (1992) Blepharospasm associated with neurocysticercosis. Acta Neurol (Napoli) 14:56–59

    Google Scholar 

  48. Choe CH, Gausas RE (2012) Blepharospasm and apraxia of eyelid opening associated with anti-Hu paraneoplastic antibodies: a case report. Ophthalmology 119:865–868. https://doi.org/10.1016/j.ophtha.2011.10.008

    Article  PubMed  Google Scholar 

  49. Armangue T, Moris G, Cantarín-Extremera V, Conde CE, Rostasy K, Erro ME, Portilla-Cuenca JC, Turón-Viñas E, Málaga I, Muñoz-Cabello B, Torres-Torres C, Llufriu S, González-Gutiérrez-Solana L, González G, Casado-Naranjo I, Rosenfeld M, Graus F, Dalmau J, Spanish Prospective Multicentric Study of Autoimmunity in Herpes Simplex Encephalitis (2015) Autoimmune post-herpes simplex encephalitis of adults and teenagers. Neurology 85:1736–1743. https://doi.org/10.1212/WNL.0000000000002125

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Nociti V, Bentivoglio AR, Frisullo G, Fasano A, Soleti F, Iorio R, Loria G, Patanella AK, Marti A, Tartaglione T, Tonali PA, Batocchi AP (2008) Movement disorders in multiple sclerosis: causal or coincidental association? Mult Scler 14:1284–1287. https://doi.org/10.1177/1352458508094883

    Article  CAS  PubMed  Google Scholar 

  51. Kostić VS, Stojanović-Svetel M, Kacar A (1996) Symptomatic dystonias associated with structural brain lesions: report of 16 cases. Can J Neurol Sci 23:53–56. https://doi.org/10.1017/s0317167100039184

    Article  PubMed  Google Scholar 

  52. Khooshnoodi MA, Factor SA, Jinnah HA (2013) Secondary blepharospasm associated with structural lesions of the brain. J Neurol Sci 331:98–101. https://doi.org/10.1016/j.jns.2013.05.022

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  53. Black KJ, Ongür D, Perlmutter JS (1998) Putamen volume in idiopathic focal dystonia. Neurology 51:819–824. https://doi.org/10.1212/wnl.51.3.819

    Article  CAS  PubMed  Google Scholar 

  54. Etgen T, Mühlau M, Gaser C, Sander D (2006) Bilateral grey-matter increase in the putamen in primary blepharospasm. J Neurol Neurosurg Psychiatry 77:1017–1020. https://doi.org/10.1136/jnnp.2005.087148

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Obermann M, Yaldizli O, De Greiff A, Lachenmayer ML, Buhl AR, Tumczak F, Gizewski ER, Diener HC, Maschke M (2007) Morphometric changes of sensorimotor structures in focal dystonia. Mov Disord 22:1117–1123. https://doi.org/10.1002/mds.21495

    Article  PubMed  Google Scholar 

  56. Martino D, Di Giorgio A, D'Ambrosio E, Popolizio T, Macerollo A, Livrea P, Bertolino A, Defazio G (2011) Cortical gray matter changes in primary blepharospasm: a voxel-based morphometry study. Mov Disord 26:1907–1912. https://doi.org/10.1002/mds.23724

    Article  PubMed  Google Scholar 

  57. Suzuki Y, Kiyosawa M, Wakakura M, Mochizuki M, Ishii K (2011) Gray matter density increase in the primary sensorimotor cortex in long-term essential blepharospasm. Neuroimage 56:1–7. https://doi.org/10.1016/j.neuroimage.2011.01.081

    Article  PubMed  Google Scholar 

  58. Horovitz SG, Ford A, Najee-Ullah MA, Ostuni JL, Hallett M (2012) Anatomical correlates of blepharospasm. Transl Neurodegener 15:1–12. https://doi.org/10.1186/2047-9158-1-12

    Article  Google Scholar 

  59. Tayyabah Y, Dervenoulas G, Politis M (2018) Advances in MRI methodology. Int Rev Neurobiol 141:31–76. https://doi.org/10.1016/bs.irn.2018.08.008

    Article  Google Scholar 

  60. Alexander AL, Lee JE, Lazar M, Field AS (2007) Diffusion tensor imaging of the brain. Neurotherapeutics 4:316–329. https://doi.org/10.1016/j.nurt.2007.05.011

    Article  PubMed  PubMed Central  Google Scholar 

  61. Fabbrini G, Pantano P, Totaro P, Calistri V, Colosimo C, Carmellini M, Defazio G, Berardelli A (2008) Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm. Eur J Neurol 15:185–189. https://doi.org/10.1111/j.1468-1331.2007.02034.x

    Article  CAS  PubMed  Google Scholar 

  62. Pinheiro GL, Guimarães RP, Piovesana LG, Campos BM, Campos LS, Azevedo PC, Torres FR, Amato-Filho AC, França MC Jr, Lopes-Cendes I, Cendes F, D'Abreu A (2015) White matter microstructure in idiopathic craniocervical dystonia. Tremor Other Hyperkinet Mov 5:302. https://doi.org/10.7916/D86972H6

    Article  Google Scholar 

  63. Yang J, Luo C, Song W, Guo X, Zhao B, Chen X, Huang X, Gong Q, Shang HF (2014) Diffusion tensor imaging in blepharospasm and blepharospasm-oromandibular dystonia. J Neurol 261:1413–1424. https://doi.org/10.1007/s00415-014-7359-y

    Article  PubMed  Google Scholar 

  64. Glover GH (2011) Overview of functional magnetic resonance imaging. Neurosurg Clin N Am 22:133–139. https://doi.org/10.1016/j.nec.2010.11.001

    Article  PubMed  PubMed Central  Google Scholar 

  65. Smitha KA, Akhil Raja K, Arun KM, Rajesh PG, Thomas B, Kapilamoorthy TR, Kesavadas (2017) C resting state fMRI: a review on methods in resting state connectivity analysis and resting state networks. J Neuroradiol 30:305–317. https://doi.org/10.1177/1971400917697342

    Article  CAS  Google Scholar 

  66. Baker RS, Andersen AH, Morecraft RJ, Smith CD (2003) A functional magnetic resonance imaging study in patients with benign essential blepharospasm. J Neuroophthalmol 23:11–15. https://doi.org/10.1097/00041327-200303000-00003

    Article  PubMed  Google Scholar 

  67. Schmidt KE, Linden DE, Goebel R, Zanella FE, Lanfermann H, Zubcov AA (2003) Striatal activation during blepharospasm revealed by fMRI. Neurology 60:1738–1743. https://doi.org/10.1212/01.wnl.0000063306.67984.8c

    Article  PubMed  Google Scholar 

  68. Obermann M, Yaldizli O, de Greiff A, Konczak J, Lachenmayer ML, Tumczak F, Buhl AR, Putzki N, Vollmer-Haase J, Gizewski ER, Diener HC, Maschke M (2008) Increased basal-ganglia activation performing a non-dystonia-related task in focal dystonia. Eur J Neurol 15(2008):831–838. https://doi.org/10.1111/j.1468-1331.2008.02196.x

    Article  CAS  PubMed  Google Scholar 

  69. Lee MH, Smyser CD, Shimony JS (2013) Resting-state fMRI: a review of methods and clinical applications. Am J Neuroradiol 34:1866–1872. https://doi.org/10.3174/ajnr.A3263

    Article  CAS  PubMed  Google Scholar 

  70. Wei J, Wei S, Yang R, Yang L, Yin Q, Li H, Qin Q, Lei Y, Qin C, Tang J, Luo S, Guo W (2018) Voxel-mirrored homotopic connectivity of resting-state functional magnetic resonance imaging in blepharospasm. Front Psychol 9:1620. https://doi.org/10.3389/fpsyg.2018.01620

    Article  PubMed  PubMed Central  Google Scholar 

  71. Zhou B, Wang J, Huang Y, Yang Y, Gong Q, Zhou D (2013) A resting state functional magnetic resonance imaging study of patients with benign essential blepharospasm. J Neuroophthalmol 33:235–240. https://doi.org/10.1097/WNO.0b013e31828f69e5

    Article  CAS  PubMed  Google Scholar 

  72. Yang J, Luo C, Song W, Chen Q, Chen K, Chen X, Huang X, Gong Q, Shang H (2013) Altered regional spontaneous neuronal activity in blepharospasm: a resting state fMRI study. J Neurol 260:2754–2760. https://doi.org/10.1007/s00415-013-7042-8

    Article  PubMed  Google Scholar 

  73. Battistella G, Termsarasab P, Ramdhani RA, Fuertinger S, Simonyan S (2017) Isolated focal dystonia as a disorder of large-scale functional networks. Cereb Cortex 27:1203–1215. https://doi.org/10.1093/cercor/bhv313

    Article  PubMed  Google Scholar 

  74. Jochim A, Li Y, Zech M, Lam D, Gross N, Koch K, Zimmer C, Winkelmann J, Haslinger B (2018) Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). Parkinsonism Relat Disord 46:74–78. https://doi.org/10.1016/j.parkreldis.2017.10.008

    Article  PubMed  Google Scholar 

  75. Huang XF, Zhu MR, Shan P, Pei CH, Liang ZH, Zhou HL, Ni MF, Miao YM, Xu GQ, Zhang BW, Luo YY (2017) Multiple neural networks malfunction in primary blepharospasm: an independent components analysis. Front Hum Neurosci 11:235. https://doi.org/10.3389/fnhum.2017.00235

    Article  PubMed  PubMed Central  Google Scholar 

  76. Ni MF, Huang HF, Miao YW, Liang ZH (2017) Resting state fMRI observations of baseline brain functional activities and connectivities in primary blepharospasm. Neurosci Lett 660:22–28. https://doi.org/10.1016/j.neulet.2017.09.014

    Article  CAS  PubMed  Google Scholar 

  77. Jiang W, Lan Y, Cen C, Liu Y, Feng C, Lei Y, Guo W, Luo S (2019) Abnormal spontaneous neural activity of brain regions in patients with primary blepharospasm at rest. J Neurol Sci 403:44–49. https://doi.org/10.1016/j.jns.2019.06.002

    Article  PubMed  Google Scholar 

  78. Jinnah HA, Neychev V, Hess EJ (2017) The anatomical basis for dystonia: the motor network model. Tremor Other Hyperkinet Mov 7:506. https://doi.org/10.7916/D8V69X3S

    Article  CAS  Google Scholar 

  79. Berardelli A, Rothwell JC, Day BL, Marsden CD (1985) Pathophysiology of blepharospasm and oromandibular dystonia. Brain 108:593–608. https://doi.org/10.1093/brain/108.3.593

    Article  PubMed  Google Scholar 

  80. Tolosa E, Montserrat L, Bayes A (1988) Blink reflex studies in focal dystonias: enhanced excitability of brainstem interneurons in cranial dystonia and spasmodic torticollis. Mov Disord 3:61–69. https://doi.org/10.1002/mds.870030108

    Article  CAS  PubMed  Google Scholar 

  81. Baione V, Ferrazzano G, Berardelli I, Belvisi D, Berardelli A, Conte A (2019) Unravelling mechanisms of altered modulation of trigemino-facial circuits in blepharospasm. Clin Neurophysiol 130:1642–1643. https://doi.org/10.1016/j.clinph.2019.07.001

    Article  PubMed  Google Scholar 

  82. Conte A, Fabbrini G, Belvisi D, Marsili L, Di Stasio F, Berardelli A (2010) Electrical activation of the orbicularis oculi muscle does not increase the effectiveness of botulinum toxin type A in patients with blepharospasm. Eur J Neurol 17:449–455. https://doi.org/10.1111/j.1468-1331.2009.02840.x

    Article  CAS  PubMed  Google Scholar 

  83. Valls-Sole J, Tolosa ES, Ribera G (1991) Neurophysiological observations on the effects of botulinum toxin treatment in patients with dystonic blepharospasm. J Neurol Neurosurg Psychiatry 54:310–313. https://doi.org/10.1136/jnnp.54.4.310

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  84. Carella F, Ciano C, Musicco M, Scaioli V (1994) Exteroceptive reflexes in dystonia: a study of the recovery cycle of the R2 component of the blink reflex and of the exteroceptive suppression of the contracting sternocleidomastoid muscle in blepharospasm and torticollis. Mov Disord 9:183–187. https://doi.org/10.1002/mds.870090210

    Article  CAS  PubMed  Google Scholar 

  85. Pauletti G, Berardelli A, Cruccu G, Agostino R, Manfredi M (1993) Blink reflex and the masseter inhibitory reflex in patients with dystonia. Mov Disord 8:495–500. https://doi.org/10.1002/mds.870080414

    Article  CAS  PubMed  Google Scholar 

  86. Gómez-Wong E, Martí MJ, Tolosa E, Valls-Solé J (1998) Sensory modulation of the blink reflex in patients with blepharospasm. Arch Neurol 55:1233–1237. https://doi.org/10.1001/archneur.55.9.1233

    Article  PubMed  Google Scholar 

  87. Cruccu G, Deuschl G (2000) The clinical use of brainstem reflexes and hand-muscle reflexes. Clin Neurophysiol 111:371–387. https://doi.org/10.1016/s1388-2457(99)00291-6

    Article  CAS  PubMed  Google Scholar 

  88. Müller J, Rinnerthaler M, Poewe W, Kofler M (2007) Auditory startle reaction in primary blepharospasm. Mov Disord 22:268–272. https://doi.org/10.1002/mds.21270

    Article  PubMed  Google Scholar 

  89. Sommer M, Ruge D, Tergau F, Beuche W, Altenmüller E, Paulus W (2002) Intracortical excitability in the hand motor representation in hand dystonia and blepharospasm. Mov Disord 17:1017–1025. https://doi.org/10.1002/mds.10205

    Article  PubMed  Google Scholar 

  90. Currà A, Romaniello A, Berardelli A, Cruccu G, Manfredi M (2000) Shortened cortical silent period in facial muscles of patients with cranial dystonia. Neurology 54:130–135. https://doi.org/10.1212/wnl.54.1.130

    Article  PubMed  Google Scholar 

  91. Quartarone A, Morgante F, Sant'angelo A, Rizzo V, Bagnato S, Terranova C, Siebner HR, Berardelli A, Girlanda P (2008) Abnormal plasticity of sensorimotor circuits extends beyond the affected body part in focal dystonia. J Neurol Neurosurg Psychiatry 79:985–990. https://doi.org/10.1136/jnnp.2007.121632

    Article  CAS  PubMed  Google Scholar 

  92. Cruccu G, Pauletti G, Agostino R, Berardelli A, Manfredi M (1991) Masseter inhibitory reflex in movement disorders, Huntington’s chorea, Parkinson's disease, dystonia, and unilateral masticatory spasm. Electroencephalogr Clin Neurophysiol 81:24–30. https://doi.org/10.1016/0168-5597(91)90100-c

    Article  CAS  PubMed  Google Scholar 

  93. Basso MA, Evinger C (1996) An explanation for reflex blink hyperexcitability in Parkinson’s disease. II Nucleus raphe magnus. J Neurosci 16:7318–7330. https://doi.org/10.1523/JNEUROSCI.16-22-07318

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  94. Basso MA, Powers AS, Evinger C (1996) An explanation for reflex blink hyperexcitability in Parkinson’s disease. I Superior colliculus. J Neurosci 16:7308–7317. https://doi.org/10.1523/JNEUROSCI.16-22-07308

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  95. Evinger C, Manning KA, Pellegrini JJ, Basso MA, Powers AS, Sibony PA (1994) Not looking while leaping: the linkage of blinking and saccadic gaze shifts. Exp Brain Res 100:337–344. https://doi.org/10.1007/bf00227203

    Article  CAS  PubMed  Google Scholar 

  96. Cunic D, Roshan L, Khan FI, Lozano AM, Lang AE, Chen R (2002) Effects of subthalamic nucleus stimulation on motor cortex excitability in Parkinson’s disease. Neurology 58:1665–1672. https://doi.org/10.1212/wnl.58.11.1665

    Article  CAS  PubMed  Google Scholar 

  97. Molnar GF, Sailer A, Gunraj CA, Cunic DI, Lang AE, Lozano AM, Moro E, Chen R (2005) Changes in cortical excitability with thalamic deep brain stimulation. Neurology 64:1913–1919. https://doi.org/10.1212/01.WNL.0000163985.89444.DD

    Article  CAS  PubMed  Google Scholar 

  98. Däuper J, Peschel T, Schrader C, Kohlmetz C, Joppich G, Nager W, Dengler R, Rollnik JD (2002) Effects of subthalamic nucleus (STN) stimulation on motor cortex excitability. Neurology 59:700–706. https://doi.org/10.1212/wnl.59.5.700

    Article  PubMed  Google Scholar 

  99. Kühn AA, Meyer BU, Trottenberg T, Brandt SA, Schneider GH, Kupsch A (2003) Modulation of motor cortex excitability by pallidal stimulation in patients with severe dystonia. Neurology 60:768–774. https://doi.org/10.1212/01.wnl.0000044396.64752.4c

    Article  PubMed  Google Scholar 

  100. Ugawa Y, Day BL, Rothwell JC, Thompson PD, Merton PA, Marsden CD (1991) Modulation of motor cortical excitability by electrical stimulation over the cerebellum in man. J Physiol 441:57–72. https://doi.org/10.1113/jphysiol.1991.sp018738

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  101. Ugawa Y, Terao Y, Hanajima R, Sakai K, Furubayashi T, Machii K, Kanazawa I (1997) Magnetic stimulation over the cerebellum in patients with ataxia. Electroencephalogr Clin Neurophysiol 104:453–458. https://doi.org/10.1016/s0168-5597(97)00051-8

    Article  CAS  PubMed  Google Scholar 

  102. Ates MP, Alaydin HC, Cengiz B (2018) The effect of the anodal transcranial direct current stimulation over the cerebellum on the motor cortex excitability. Brain Res Bull 140:114–119. https://doi.org/10.1016/j.brainresbull.2018.04.012

    Article  PubMed  Google Scholar 

  103. Pinto AD, Chen R (2001) Suppression of the motor cortex by magnetic stimulation of the cerebellum. Exp Brain Res 140:505–510. https://doi.org/10.1007/s002210100862

    Article  CAS  PubMed  Google Scholar 

  104. Nuwer MR, Aminoff M, Desmedt J, Eisen AA, Goodin D, Matsuoka S, Mauguière F, Shibasaki H, Sutherling W, Vibert JF (1994) IFCN recommended standards for short latency somatosensory evoked potentials. Report of an IFCN committee. International Federation of Clinical Neurophysiology. Electroencephalogr Clin Neurophysiol 91:6–11. https://doi.org/10.1016/0013-4694(94)90012-4

    Article  CAS  PubMed  Google Scholar 

  105. Meyer-Hardting E, Wiederholt WC, Budnick B (1983) Recovery function of short latency components of the human somatosensory evoked potential. Arch Neurol 40:290–293. https://doi.org/10.1001/archneur.1983.04050050058008

    Article  CAS  PubMed  Google Scholar 

  106. Frasson E, Priori A, Bertolasi L, Mauguière F, Fiaschi A, Tinazzi M (2001) Somatosensory disinhibition in dystonia. Mov Disord 16:674–682. https://doi.org/10.1002/mds.1142

    Article  CAS  PubMed  Google Scholar 

  107. Antelmi E, Erro R, Rocchi L, Liguori R, Tinazzi M, Di Stasio F, Berardelli A, Rothwell JC, Bhatia KP (2017) Neurophysiological correlates of abnormal somatosensory temporal discrimination in dystonia. Mov Disord 32:141–148. https://doi.org/10.1002/mds.26804

    Article  CAS  PubMed  Google Scholar 

  108. Tamura Y, Matsuhashi M, Lin P, Ou B, Vorbach S, Kakigi R, Hallett M (2008) Impaired intracortical inhibition in the primary somatosensory cortex in focal hand dystonia. Mov Disord 23:558–565. https://doi.org/10.1002/mds.21870

    Article  PubMed  Google Scholar 

  109. Scontrini A, Conte A, Defazio G, Fiorio M, Fabbrini G, Suppa A, Tinazzi M, Berardelli A (2009) Somatosensory temporal discrimination in patients with primary focal dystonia. J Neurol Neurosurg Psychiatry 80:1315–1319. https://doi.org/10.1136/jnnp.2009.178236

    Article  CAS  PubMed  Google Scholar 

  110. Bradley D, Whelan R, Kimmich O, O'Riordan S, Mulrooney N, Brady P, Walsh R, Reilly RB, Hutchinson S, Molloy F, Hutchinson M (2012) Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype. J Neurol 259:77–82. https://doi.org/10.1007/s00415-011-6125-7

    Article  CAS  PubMed  Google Scholar 

  111. Conte A, McGovern EM, Narasimham S, Beck R, Killian O, O'Riordan S, Reilly RB, Hutchinson M (2017) Temporal discrimination: mechanisms and relevance to adult-onset dystonia. Front Neurol 8:625. https://doi.org/10.3389/fneur.2017.00625

    Article  PubMed  PubMed Central  Google Scholar 

  112. Fiorio M, Tinazzi M, Scontrini A, Stanzani C, Gambarin M, Fiaschi A, Moretto G, Fabbrini G, Berardelli A (2008) Tactile temporal discrimination in patients with blepharospasm. J Neurol Neurosurg Psychiatry 79:796–798. https://doi.org/10.1136/jnnp.2007.131524

    Article  CAS  PubMed  Google Scholar 

  113. Scontrini A, Conte A, Fabbrini G, Colosimo C, Di Stasio F, Ferrazzano G, Berardelli A (2011) Somatosensory temporal discrimination tested in patients receiving botulinum toxin injection for cervical dystonia. Mov Disord 26:742–746. https://doi.org/10.1002/mds.23447

    Article  PubMed  Google Scholar 

  114. Tinazzi M, Frasson E, Bertolasi L, Fiaschi A, Aglioti S (1999) Temporal discrimination of somesthetic stimuli is impaired in dystonic patients. Neuroreport 10:1547–1550. https://doi.org/10.1097/00001756-199905140-00028

    Article  CAS  PubMed  Google Scholar 

  115. Sanger TD, Tarsy D, Pascual-Leone A (2001) Abnormalities of spatial and temporal sensory discrimination in writer’s cramp. Mov Disord 16:94–99. https://doi.org/10.1002/1531-8257(200101)16:1%3C94::aid-mds1020%3E3.0.co;2-o

    Article  CAS  PubMed  Google Scholar 

  116. Fiorio M, Gambarin M, Valente EM, Liberini P, Loi M, Cossu G, Moretto G, Bhatia KP, Defazio G, Aglioti SM, Fiaschi A, Tinazzi M (2007) Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain 130:134–142. https://doi.org/10.1093/brain/awl283

    Article  PubMed  Google Scholar 

  117. Kimmich O, Molloy A, Whelan R, Williams L, Bradley D, Balsters J, Molloy F, Lynch T, Healy DG, Walsh C, O'Riordan S, Reilly RB, Hutchinson M (2014) Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates. Mov Disord 29:804–811. https://doi.org/10.1002/mds.25822

    Article  PubMed  Google Scholar 

  118. Hutchinson M, Kimmich O, Molloy A, Whelan R, Molloy F, Lynch T, Healy DG, Walsh C, Edwards MJ, Ozelius L, Reilly RB, O’Riordan S (2013) The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia. Mov Disord 28:1766–1774. https://doi.org/10.1002/mds.25676

    Article  PubMed  Google Scholar 

  119. Conte A, Defazio G, Ferrazzano G, Hallett M, Macerollo A, Fabbrini G, Berardelli A (2013) Is increased blinking a form of blepharospasm? Neurology 80:2236–2241. https://doi.org/10.1212/WNL.0b013e318296e99d

    Article  PubMed  PubMed Central  Google Scholar 

  120. Conte A, Ferrazzano G, Defazio G, Fabbrini G, Hallett M, Berardelli A (2017) Increased blinking may be a precursor of blepharospasm: a longitudinal study. Mov Disord Clin Pract 4:733–736. https://doi.org/10.1002/mdc3.12499

    Article  PubMed  PubMed Central  Google Scholar 

  121. Rocchi L, Casula E, Tocco P, Berardelli A, Rothwell J (2016) Somatosensory temporal discrimination threshold involves inhibitory mechanisms in the primary somatosensory area. J Neurosci 36:325–335. https://doi.org/10.1523/JNEUROSCI.2008-15.2016

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  122. Hutchinson M, Isa T, Molloy A, Kimmich O, Williams L, Molloy F, Moore H, Healy DG, Lynch T, Walsh C, Butler J, Reilly RB, Walsh R, O'Riordan S (2014) Cervical dystonia: a disorder of the midbrain network for covert attentional orienting. Front Neurol 5:54. https://doi.org/10.3389/fneur.2014.00054

    Article  PubMed  PubMed Central  Google Scholar 

  123. Valls-Solé J, Valldeoriola F, Tolosa E, Marti MJ (1997) Distinctive abnormalities of facial reflexes in patients with progressive supranuclear palsy. Brain 120:1877–1883. https://doi.org/10.1093/brain/120.10.1877

    Article  PubMed  Google Scholar 

  124. Berardelli A, Currà A, Fabbrini G, Gilio F, Manfredi M (2003) Pathophysiology of tics andTourette syndrome. J Neurol 250:781–787. https://doi.org/10.1007/s00415-003-1102-4

    Article  PubMed  Google Scholar 

  125. Molloy FM, Dalakas MC, Floeter MK (2002) Increased brainstem excitability in stiff-person syndrome. Neurology 59:449–451. https://doi.org/10.1212/wnl.59.3.449

    Article  CAS  PubMed  Google Scholar 

  126. Cantello R (2002) Applications of transcranial magnetic stimulation in movement disorders. J Clin Neurophysiol 19:272–293. https://doi.org/10.1097/00004691-200208000-00003

    Article  PubMed  Google Scholar 

  127. Hallett M (2011) Neurophysiology of dystonia: the role of inhibition. Neurobiol Dis 42:177–184. https://doi.org/10.1016/j.nbd.2010.08.025

    Article  PubMed  Google Scholar 

  128. Edwards MJ, Huang YZ, Wood NW, Rothwell JC, Bhatia KP (2003) Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 126:2074–2080. https://doi.org/10.1093/brain/awg209

    Article  PubMed  Google Scholar 

  129. Ikoma K, Samii A, MercuriB WEM, Hallett M (1996) Abnormal cortical motor excitability in dystonia. Neurology 46:1371–1376. https://doi.org/10.1212/wnl.46.5.1371

    Article  CAS  PubMed  Google Scholar 

  130. Panizza M, Lelli S, Nilsson J, Hallett M (1990) H-reflex recovery curve and reciprocal inhibition of H-reflex in different kinds of dystonia. Neurology 40:824–828. https://doi.org/10.1212/wnl.40.5.824

    Article  CAS  PubMed  Google Scholar 

  131. Liuzzi D, Gigante AF, Leo A, Defazio G (2016) The anatomical basis of upper limb dystonia: lesson from secondary cases. Neurol Sci 37:1393–1398. https://doi.org/10.1007/s10072-016-2598-6

    Article  PubMed  Google Scholar 

  132. Tisch S, Limousin P, Rothwell JC, Asselman P, Quinn N, Jahanshahi M, Bhatia KP, Hariz M (2006) Changes in blink reflex excitability after globus pallidus internus stimulation for dystonia. Mov Disord 21:1650–1655. https://doi.org/10.1002/mds.20899

    Article  PubMed  Google Scholar 

  133. Mai JK, Forutan F (2012) Thalamus. In: Mai JK, Paxinos G (eds) The Human Nervous System, 3rd edn. Elsevier Inc, pp 618–677

  134. Brighina F, Romano M, Giglia G, Saia V, Puma A, Giglia F, Fierro B (2009) Effects of cerebellar TMS on motor cortex of patients with focal dystonia: a preliminary report. Exp Brain Res 192:651–656. https://doi.org/10.1007/s00221-008-1572-9

    Article  CAS  PubMed  Google Scholar 

  135. Koch G, Porcacchia P, Ponzo V, Carrillo F, Cáceres-Redondo MT, Brusa L, Desiato MT, Arciprete F, Di Lorenzo F, Pisani A, Caltagirone C, Palomar FJ, Mir P (2014) Effects of two weeks of cerebellar theta burst stimulation in cervical dystonia patients. Brain Stimul 7:564–572. https://doi.org/10.1016/j.brs.2014.05.002

    Article  PubMed  Google Scholar 

  136. Bologna M, Paparella G, Fabbrini A, Leodori G, Rocchi L, Hallett M, Berardelli A (2016) Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. Clin Neurophysiol 127:3472–3479. https://doi.org/10.1016/j.clinph.2016.09.008

    Article  PubMed  PubMed Central  Google Scholar 

  137. Gerwig M, Kolb FP, Timmann D (2007) The involvement of the human cerebellum in eyeblink conditioning. Cerebellum 6:38–57. https://doi.org/10.1080/14734220701225904

    Article  CAS  PubMed  Google Scholar 

  138. Antelmi E, Di Stasio F, Rocchi L, Erro R, Liguori R, Ganos C, Brugger F, Teo J, Berardelli A, Rothwell J, Bhatia KP (2016) Impaired eye blink classical conditioning distinguishes dystonic patients with and without tremor. Parkinsonism Relat Disord 31:23–27. https://doi.org/10.1016/j.parkreldis.2016.06.011

    Article  CAS  PubMed  Google Scholar 

  139. Teo JT, van de Warrenburg BP, Schneider SA, Rothwell JC, Bhatia KP (2009) Neurophysiological evidence for cerebellar dysfunction in primary focal dystonia. J Neurol Neurosurg Psychiatry 80:80–83. https://doi.org/10.1136/jnnp.2008.1446

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medical Sciences and Public Health, Neurology Unit, University of Cagliari and AOU Cagliari, Monserrato, 09042, Cagliari, Italy

    Marcello Mario Mascia, Sabino Dagostino & Giovanni Defazio

Authors
  1. Marcello Mario Mascia
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sabino Dagostino
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Giovanni Defazio
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

M.M. Mascia: conception, literature search, and writing the first draft. S. Dagostino: revision and critique. G. Defazio: revision and critique.

All the authors read and approved the final manuscript.

Corresponding author

Correspondence to Marcello Mario Mascia.

Ethics declarations

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical approval

None

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Mascia, M.M., Dagostino, S. & Defazio, G. Does the network model fits neurophysiological abnormalities in blepharospasm?. Neurol Sci 41, 2067–2079 (2020). https://doi.org/10.1007/s10072-020-04347-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-020-04347-z

Keywords

Search

Navigation