MRI morphometry in primary focal dystonia

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Primary blepharospasm (BS) is one of most frequent forms of focal dystonia characterized by excessive involuntary eye closure. Pathophysiology of primary BS remains obscure. The purpose of this study: to determine changes of the cerebral gray matter volume that may be pathogenically important in primary BS. We examined 23 right-handed patients with primary BS (6 males and 17 females) and 16 healthy age- and sex-matched individuals who underwent voxel-based morphometry (VOM) – a method of assessment of fine regional quantitative changes of gray matter volume. In 15 patients VOM studies were performed twice, before and one month after injections of botulinum toxin type A (BTA). Compared to controls, BS patients were characterized by the decrease in gray matter volume in the head of the right caudate nucleus, anterior and posterior lobes of the right cerebellar hemisphere, and the right fusiform gurus. Multiplefactor analysis did not show relationships between gray matter changes and age of patients, age at the debut of BS, and duration of the disease or BTA treatment. On repeat examination after local BTA injections in the circular orbicular muscles (aimed at reducing dystonic spasms in BS patients), the increase in gray matter volume in both fusiform gyri, the opercular parts of the left Rolandic gyrus, the right middle and the left inferior temporal gyri, the left inferior frontal gyrus, and the left cingular gyrus was observed. The obtained data demonstrate the presence of structural brain changes in primary BS, confirming a significant role of the striatum and the cerebellum in pathophysiology of this form of focal dystonia.


About the authors

Sofiya L. Timerbaeva

Research Center of Neurology

Russian Federation, Moscow

Rodion N. Konovalov

Research Center of Neurology

ORCID iD: 0000-0001-5539-245X

Cand. Sci. (Med.), senior researcher, Neuroradiology department

Russian Federation, 125367 Moscow, Volokolamskoye shosse, 80

Sergey N. Illarioshkin

Research Center of Neurology

Author for correspondence.
ORCID iD: 0000-0002-2704-6282

D. Sci. (Med.), Prof., Corr. Member of the Russian Academy of Sciences, Deputy Director, Head, Department for brain research

Russian Federation, Moscow


  1. Баранова Т.С., Коновалов Р.Н., Юдина Е.Н., Иллариошкин С.Н. Воксел-ориентированная морфометрия: новый метод прижизненного мониторинга нейродегенеративного процесса. В сб.: Материалы Всероссийской конференции с международным участием «Современные направления исследований функциональной межполушарной асимметрии и пластичности мозга». М., 2010: 540–543.
  2. Колесниченко Ю.А., Машин В.В., Иллариошкин С.Н., Зайц Р.Дж. Воксел-ориентированная морфометрия: новый метод оценки локальных вторичных атрофических изменений головного мозга. Анн. клин. и эксперим. неврологии 2007; 1 (4): 35−42.
  3. Alarcón F., Zijlmans J.C., Dueñas G., Cevallos N. Post-stroke movement disorders: report of 56 patients. J. Neurol. Neurosurg. Psychiatry 2004; 75: 1568–1574.
  4. Ashburner J., Friston K.J. Voxel-based morphometry – the methods. NeuroImage 2000; 11: 805–821.
  5. Baker R.S., Andersen A.H., Morecraft R.J., Smith C.D. A functional magnetic resonance imaging study in patients with benign essential blepharospasm. J. Neuroophthalmol. 2003; 23: 11–15.
  6. Berardelli A., Rothwell J.C., Hallett M. et al. The pathophysiology of primary dystonia. Brain 1998; 121: 1195–1212.
  7. Beukers R.J., van der Meer J.N., van der Salm S.M. et al. Severity of dystonia is correlated with putaminal gray matter changes in Myoclonus-Dystonia. Eur. J. Neurol. 2011; 18: 906–912.
  8. Beyer M.K., Janvin C.C., Larsen J.P. et al. A magnetic resonance imaging of patients with Parkinson’s disease with mild cognitive impairment and dementia using voxel-based morphometry. J. Neurol. Neurosurg. Psychiatry 2007; 78: 254–259.
  9. Black K.J., Ongur D., Perlmutter J.S. Putamen volume in idiophatic focal dystonia. Neurology 1998; 5: 819–824.
  10. Burns L.H., Pakzaban P., Deacon T.W. et al. Selective putaminal excitotoxic lesions in non human primates model the movement disorder of Huntington disease. Neuroscience 1995; 64: 1007–1017.
  11. Byrnes M.L., Thickbroom G.W., Wilson S.A. et al. The corticomotor representation of upper limb muscles in writer’s cramp and changes following botulinum toxin injection. Brain 1998; 121: 977–988.
  12. Defazio G., Livrea P., De Salvia R. et al. Prevalence of primary blepharospasm in a community of Puglia region, Southern Italy. Neurology 2001; 56: 1579–1581.
  13. Defazio G., Livrea P. Epidemiology of primary blepharospasm. Mov. Disord. 2002; 17: 7–12.
  14. Draganski B., Thun-Hohenstein C., Bogdahn U. et al. “Motor circuit” gray matter changes in idiopathic cervical dystonia. Neurology 2003; 61: 1228–1231.
  15. Draganski B., Bhatia K.P. Brain structure in movement disorders: a neuroimaging perspective. Curr. Opin. Neurol. 2010; 23: 413–419.
  16. Egger K., Mueller J., Schocke M. et al. Voxel based morphometry reveals specific gray matter changes in primary dystonia. Mov. Disord. 2007; 22: 1538–1542.
  17. Esmaeli-Gutstein B., Nahmias C., Thompson M. et al. Positron emission tomography in patients with benign essential blepharospasm. Ophthal. Plast. Reconstr. Surg. 1999; 15: 23–27.
  18. Etgen T., Mühlau M., Gaser C., Sander D. Bilateral putaminal greymatter increase in primary blepharospasm. J Neurol. Neurosurg. Psychiatry 2006; 77: 1017–1020.
  19. Evinger C., Perlmutter J.S. Blind men and blinking elephants. Neurology 2003; 60: 1732–1733.
  20. Federico F., Simone I.L., Lucivero V. et al. Proton magnetic resonance spectroscopy in primary blepharospasm. Neurology 1998; 51: 892–895.
  21. Galardi G., Perani D., Grassi F. et al. Basal ganglia and thalamo-cortical hypermetabolism in patients with spasmodic torticollis. Acta. Neurol. Scand. 1996; 94: 172–176.
  22. Gibb W.R., Lees A.J., Marsden C.D. Pathological report of four patients presenting with cranial dystonias. Mov. Disord. 1988; 3: 211–221.
  23. Gilio F., Currà A., Lorenzano C. et al. Effects of botulinum toxin type A on intracortical inhibition in patients with dystonia. Ann. Neurol. 2000; 48: 20–26.
  24. Good C.D., Johnsrude I.S., Ashburner J. et al. A voxel-based morphometric study of ageing in 465 normal adult human brains. Neuroimage 2001; 14: 21–36.
  25. Grandas F., Elston J., Quinn N., Marsden C.D. Blepharospasm: a review of 264 patients. J. Neurol. Neurosurg. Psychiatry 1988; 51: 767–772.
  26. Grandas F., Lopez-Manzanares L., Traba A. Transient blepharospasm secondary to unilateral striatal infarction. Mov. Disord. 2004; 19: 1100–1102.
  27. Hallet M. Blepharospasm: recent advances. Neurology 2002; 59: 1306–1312.
  28. Hallett M., Daroff R.B. Blepharospasm: report of a workshop. Neurology 1996; 46: 1213–1218. 9 ОРИГИНАЛЬНЫЕ СТАТЬИ. Клиническая неврология МРТ-морфометрия при первичной фокальной дистонии
  29. Hutchinson M., Nakamura T., Moeller J.R. et al. The metabolic topography of essential blepharospasm: a focal dystonia with general implications. Neurology 2000; 55: 673–677.
  30. Jankovic J., Patel S.C. Blepharospasm associated with brainstem lesions. Neurology 1983; 33: 1237–1240.
  31. Jankovic J., Orman J. Blepharospasm: demographic and clinical survey of 250 patients. Ann. Ophthalmol. 1984; 16: 371–376.
  32. Jinnah H.A., Hess E.J. A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum? Neurology 2006; 67: 1740–1741.
  33. Larumbe R., Vaamonde J., Artieda J. et al. Reflex blepharospasm associated with bilateral basal ganglia lesion. Mov. Disord. 1993; 8: 198–200.
  34. Lee M.S., Marsden C.D. Movement disorders following lesions of the thalamus or subthalamic region. Mov. Disord. 1994; 9: 493–507.
  35. Martino D., Di Giorgio A., D’Ambrosio E. et al. Cortical gray matter changes in primary blepharospasm: A voxel-based morphometry study. Mov.Disord. 2011; 26: 1907–1912.
  36. Nopoulos P.C., Aylward E.H., Ross C.A. et al. Cerebral cortex structure in prodromal Huntington disease. Neurobiol. Dis. 2010; 40: 544−554.
  37. Nutt J.G., Muenter M.D., Melton L.J. et al. Epidemiology of dystonia in Rochester, Minnesota. Adv. Neurol. 1988; 50: 361–365.
  38. Obermann M., Yaldizli O., De Greiff A. et al. Morphometric changes of sensorimotor structures in focal dystonia. Mov. Disord. 2007; 22: 1117–1123.
  39. O’Rourke K., O’Riordan S., Gallagher J., Hutchinson M. Paroxysmal torticollis and Blepharospasm following bilateral cerebellar infarction. J. Neurol. 2006; 253: 1644–1645.
  40. Pantano P., Totaro P., Fabbrini G. et al. A transverse and longitudinal MR imaging Voxel-based Morphometry study in patients with primary cervical dystonia. AJNR Am. J. Neuroradiol. 2011; 32: 81–84.
  41. Rumbach L., Barth P., Costaz A., Mas J. Hemidystonia consequent upon ipsilateral vertebral Artery occlusion and cerebellar infarction. Mov. Disord. 1995; 10: 522–525.
  42. Schicatano E.J., Basso M.A., Evinger C. Animal model explains the origins of the cranial dystonia benign essential blepharospasm. J Neurophysiol. 1997; 77: 2842–2846.
  43. Schmidt K.E., Linden D.E., Goebel R. et al. Striatal activation during blepharospasm revealed by fMRI. Neurology 2003; 60: 1738–1743.
  44. Schneider S., Feifel E., Ott D. et al. Prolonged MRI T2 times of the lentiform nucleus in idiopathic spasmodic torticollis. Neurology 1994; 44: 846–850.
  45. Soneson C., Fontes M., Zhou Y. et al. Early changes in the hypothalamic region in prodromal Huntington disease revealed by MRI analysis. Neurobiol. Dis. 2010; 40: 531−543.
  46. Usmani N., Bedi G.S., Sengun C. et al. Late onset of cervical dystonia in a 39-year-old patient following cerebellar hemorrhage. J. Neurol. 2011; 258: 149–151.
  47. Verghese J., Milling C., Rosenbaum D.M. Ptosis, blepharospasm, and apraxia of eyelid opening secondary to putaminal hemorrhage. Neurology 1999; 53: 652.
  48. Zadro I., Brinar V.V., Barun B. et al. Cervical dystonia due to cerebellar stroke. Mov. Disord. 2008; 23: 919–920.

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Copyright (c) 2012 Timerbaeva S.L., Konovalov R.N., Illarioshkin S.N.

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