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Ataxias: Pathogenesis, Types, Causes and Treatment

Yıl 2017, Cilt: 4 Sayı: 2, 32 - 39, 01.08.2017

Öz

 Ataxia refers to incoordination in voluntary
movements and abnormal postural control. 
There are many different statements concerning the definition, scope and
terminology of ataxia.  Different
clinical findings, exposure to different neurological structures and several
causes play a role in the formation of each ataxia type. In most cases, there
is no cure for ataxia and a supportive treatment is necessary to control the
symptoms. Ataxia usually results from a damage to the cerebellum and its
connections such as the vestibular, proprioceptive and visual systems.
Clinically, ataxias can be subdivided into cerebellar, vestibular, sensory,
frontal, optic, visual, mixed ataxia and ataxic-hemiparesis. Etiologically,
ataxias may be divided into hereditary ataxias, sporadic degenerative ataxias
and acquired ataxias. Genetic forms of ataxia must be distinguished from the
acquired ataxias including chronic alcohol use, cerebrovascular disorders,
various toxic agents, immune-mediated inflammation, vitamin deficiencies, and
chronic central nervous system infections. After the treatment of identified
acquired causes, since ataxia is usually resistant to medical treatments, the
management is supportive but may involve physical, occupational, and speech
therapy.

Kaynakça

  • 1. Schmahmann JD. Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellarcognitive affective syndrome. J Neuropsychiatry Clin Neurosci. 2004; 16(3):367-8.
  • 2. Timmann D, Diener HC. Coordination and ataxia. In: Goetz CG, Pappert EJ, eds. Textbook of Clinical Neurology. 1999; 285-300. 1st ed. Philadelphia; WB Saunders Company.
  • 3. Gordon N. The cerebellum and cognition. Eur J Paediatr Neurol. 2007; 11(4):232-4.
  • 4. Gottwald B, Wilde B, Mihajlovic Z, Mehdorn H. Evidence for distinct cognitive deficits after focal cerebellar lesions. J Neurol Neurosurg Psychiatry. 2004; 75(11):1524-31.
  • 5. Peng YP, Qiu YH, Qiu J, Wang JJ. Cerebellar interposed nucleus lesions suppress lymphocyte function in rats. Brain Res Bull. 2006; 71(1-3):10-17.
  • 6. Ghez C, Thach WT .The Cerebellum. In. Kandel ER, Schwartz JH, Jessel TM, eds. Principals of Neural Science. 2000; 832-52. 4th ed. New York: Mc Graw-Hill.
  • 7. Baloh RW, Yee RD, Kimm J, Honrubia V. Vestibular-ocular reflex patients with lesions involving the vestibulocerebellum. Exp Neurol. 1981;72(1):141-52.
  • 8. Dietrichs E. Clinical manifestation of focal cerebellar disease as related to the organization of neural pathways. Acta Neurol Scand .Suppl. 2008;88:6-11.
  • 9. Borello-France DF, Gallagher JD, Redfern M, Furman JM, Carvell GE. Voluntary movement strategies of individuals with unilateral peripheral vestibular hypofunction. J Vestib Res. 1999;9(4):265-75.
  • 10. Horak FB, Shupert CL, Dietz V, Horstmann G. Vestibular and somatosensory contributions to responses to head and body displacements in stance. Exp Brain Res. 1994;100(1):93-106.
  • 11. Demer JL,Viirre ES.Visual-vestibular interaction during standing, walking, and running. J Vestib Res. 1996;6(4):295-313.
  • 12. Karatas M. Central vertigo and dizziness: epidemiology, differential diagnosis, and common causes. Neurologist. 2008;14(6):355-64.
  • 13. Ramnani N, Toni I, Passingham RE, Haggard P. The cerebellum and parietal cortex play a specific role in coordination: a PET study. Neuroimage. 2001;14(4):899-911.
  • 14. Mariotti C, Fancellu R, Di Donato S. An overview of the patient with ataxia. Journal of Neurology. 2005;252:511-8.
  • 15. Terry JB, Rosenberg RN. Frontal lobe ataxia. Surg Neurol. 1995;44(6):583-8.
  • 16. Ishikawa M, Hashimoto M, Kuwana N, et al. Guidelines for management of idiopathic normal pressure hydrocephalus. Neurol Med Chir (Tokyo). 2008; 48 Suppl:S1-23.
  • 17. Thompson PD. Frontal lobe ataxia. Handb Clin Neurol. 2012;103:619-22.
  • 18. Gorman MJ, Dafer R, Levine SR. Ataxic Hemiparesis, Critical Appraisal of a Lacunar Syndrome. Stroke. 1998;29:2549-55.
  • 19. Rossetti AO, Reichhart MD, Bogousslavsky J. Central Horner’s syndrome with contralateral ataxic hemiparesis. A diencephalic alternate syndrome. Neurology. 2003;12;61(3):334-8.
  • 20. Cavina-Pratesi C, Ietswaart M, Humphreys GW, Lestou V, Milner AD. Impaired grasping in a patient with optic ataxia: primary visuomotor deficit or secondary consequence of misreaching? Neuropsychologia. 2010;48(1):226-34.
  • 21. Karatas M. Internuclear and supranuclear disorders of eye movements: clinical features and causes. European Journal of Neurology. 2009;16:1265–77.
  • 22. Drachman DA, Hart CW. An approach to the dizzy patient. Neurology.1972;22:323-30.
  • 23. Paulus WM, Straube A, Brandt T. Visual stabilization of posture: Physiological stimulus characteristics and clinical aspects. Brain. 1984;107:1143-63.
  • 24. Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain. 2004;127(Pt 2):280-93.
  • 25. Eggers SDZ, Zee DS. Central vestibular disorders. In: Cummings CW, Flint PW, Harker LA, et al., eds. Otolaryngology, Head and Neck Surgery. 2005; 3254-88. 4st ed. St. Louis: Mosby.
  • 26. Riant F, Vahedi K, Tournier-Lasserve E. Hereditary episodic ataxia. Rev Neurol (Paris). 2011; 67(5):401-7.
  • 27. Tan H, Qurashi A, Poidevin M, Nelson DL, Li H, Jin P. Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum Mol Genet. 2012;21(1):57-65.
  • 28. Naik S, Pohl K, Malik M, Siddiqui A, Josifova D. Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene. Pediatr Neurol. 2011;45(5):328-30.
  • 29. Perlman SL. Cerebellar Ataxia. Curr Treat Options Neurol. 2000;3:215-24.
  • 30. van de Warrenburg BPC, van Gaalen J, Boesch S, et al. EFNS/ENS consensus on the diagnosis and management of chronic ataxias in adulthood. Eur J Neurol. 2014;21:552-62.
  • 31. Gabsi S, Gouider-Khouja N, Belal S, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol. 2001;5:477-81.
  • 32. Lorincz MT. Recognition and Treatment of Neurologic Wilson's Disease, Semin Neurol. 2012;32(5):538-43. 33. Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology. 2003;60(7):1206-8.
  • 34. Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH. Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol. 2008;12:1371-9.
  • 35. Hadjivassiliou M, Sanders DS, Woodroofe N, Williamson C, Grünewald RA. Gluten ataxia. Cerebellum. 2008;7(3):494-8.

Ataksiler: Patogenez, Tipleri, Nedenleri ve Tedavisi

Yıl 2017, Cilt: 4 Sayı: 2, 32 - 39, 01.08.2017

Öz

Ataksi istemli hareketlerde inkoordinasyon ve
anormal postüral kontrol anlamına gelir. Ataksinin tanımına, kapsamına ve
terminolojisine ilişkin birçok farklı ifade vardır. Farklı klinik bulgular,
farklı nörolojik yapıların etkilenmesi ve birçok neden her bir ataksi tipinin
ortaya çıkmasında rol oynar. Olguların çoğunda ataksinin tedavisi yoktur ve
semptomları kontrol etmek için destek tedavisi gereklidir. Ataksi sıklıkla
serebellum ve vestibüler, proprioseptif ve görsel sistemler gibi sistemlerle
bağlantılarının hasarından kaynaklanır. Ataksiler klinik olarak serebellar,
vestibüler, duyusal, frontal, optik, görsel, mikst tip ataksi ve ataksik –
hemiparezi şeklinde alt gruplara ayrılabilir. Ataksiler etyolojik olarak
herediter ataksiler, sporadik dejeneratif ataksiler ve edinilmiş ataksiler
olarak gruplanabilir. Ataksilerin genetik formları mutlaka kronik alkol
kullanımı, serebrovasküler hastalıklar, çeşitli toksik ajanlar, immun –
aracılıklı inflamasyon, vitamin eksiklikleri ve kronik santral sinir sistemi
enfeksiyonlarını içeren edinilmiş ataksilerden ayırt edilmelidir. Ataksi
sıklıkla medikal tedavilere dirençli olduğu için, saptanan edinilmiş nedenlerin
tedavisinden sonraki tedavi destek tedavisidir fakat fiziksel, mesleki ve
konuşma terapilerini içerebilir.

Kaynakça

  • 1. Schmahmann JD. Disorders of the cerebellum: ataxia, dysmetria of thought, and the cerebellarcognitive affective syndrome. J Neuropsychiatry Clin Neurosci. 2004; 16(3):367-8.
  • 2. Timmann D, Diener HC. Coordination and ataxia. In: Goetz CG, Pappert EJ, eds. Textbook of Clinical Neurology. 1999; 285-300. 1st ed. Philadelphia; WB Saunders Company.
  • 3. Gordon N. The cerebellum and cognition. Eur J Paediatr Neurol. 2007; 11(4):232-4.
  • 4. Gottwald B, Wilde B, Mihajlovic Z, Mehdorn H. Evidence for distinct cognitive deficits after focal cerebellar lesions. J Neurol Neurosurg Psychiatry. 2004; 75(11):1524-31.
  • 5. Peng YP, Qiu YH, Qiu J, Wang JJ. Cerebellar interposed nucleus lesions suppress lymphocyte function in rats. Brain Res Bull. 2006; 71(1-3):10-17.
  • 6. Ghez C, Thach WT .The Cerebellum. In. Kandel ER, Schwartz JH, Jessel TM, eds. Principals of Neural Science. 2000; 832-52. 4th ed. New York: Mc Graw-Hill.
  • 7. Baloh RW, Yee RD, Kimm J, Honrubia V. Vestibular-ocular reflex patients with lesions involving the vestibulocerebellum. Exp Neurol. 1981;72(1):141-52.
  • 8. Dietrichs E. Clinical manifestation of focal cerebellar disease as related to the organization of neural pathways. Acta Neurol Scand .Suppl. 2008;88:6-11.
  • 9. Borello-France DF, Gallagher JD, Redfern M, Furman JM, Carvell GE. Voluntary movement strategies of individuals with unilateral peripheral vestibular hypofunction. J Vestib Res. 1999;9(4):265-75.
  • 10. Horak FB, Shupert CL, Dietz V, Horstmann G. Vestibular and somatosensory contributions to responses to head and body displacements in stance. Exp Brain Res. 1994;100(1):93-106.
  • 11. Demer JL,Viirre ES.Visual-vestibular interaction during standing, walking, and running. J Vestib Res. 1996;6(4):295-313.
  • 12. Karatas M. Central vertigo and dizziness: epidemiology, differential diagnosis, and common causes. Neurologist. 2008;14(6):355-64.
  • 13. Ramnani N, Toni I, Passingham RE, Haggard P. The cerebellum and parietal cortex play a specific role in coordination: a PET study. Neuroimage. 2001;14(4):899-911.
  • 14. Mariotti C, Fancellu R, Di Donato S. An overview of the patient with ataxia. Journal of Neurology. 2005;252:511-8.
  • 15. Terry JB, Rosenberg RN. Frontal lobe ataxia. Surg Neurol. 1995;44(6):583-8.
  • 16. Ishikawa M, Hashimoto M, Kuwana N, et al. Guidelines for management of idiopathic normal pressure hydrocephalus. Neurol Med Chir (Tokyo). 2008; 48 Suppl:S1-23.
  • 17. Thompson PD. Frontal lobe ataxia. Handb Clin Neurol. 2012;103:619-22.
  • 18. Gorman MJ, Dafer R, Levine SR. Ataxic Hemiparesis, Critical Appraisal of a Lacunar Syndrome. Stroke. 1998;29:2549-55.
  • 19. Rossetti AO, Reichhart MD, Bogousslavsky J. Central Horner’s syndrome with contralateral ataxic hemiparesis. A diencephalic alternate syndrome. Neurology. 2003;12;61(3):334-8.
  • 20. Cavina-Pratesi C, Ietswaart M, Humphreys GW, Lestou V, Milner AD. Impaired grasping in a patient with optic ataxia: primary visuomotor deficit or secondary consequence of misreaching? Neuropsychologia. 2010;48(1):226-34.
  • 21. Karatas M. Internuclear and supranuclear disorders of eye movements: clinical features and causes. European Journal of Neurology. 2009;16:1265–77.
  • 22. Drachman DA, Hart CW. An approach to the dizzy patient. Neurology.1972;22:323-30.
  • 23. Paulus WM, Straube A, Brandt T. Visual stabilization of posture: Physiological stimulus characteristics and clinical aspects. Brain. 1984;107:1143-63.
  • 24. Migliaccio AA, Halmagyi GM, McGarvie LA, Cremer PD. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain. 2004;127(Pt 2):280-93.
  • 25. Eggers SDZ, Zee DS. Central vestibular disorders. In: Cummings CW, Flint PW, Harker LA, et al., eds. Otolaryngology, Head and Neck Surgery. 2005; 3254-88. 4st ed. St. Louis: Mosby.
  • 26. Riant F, Vahedi K, Tournier-Lasserve E. Hereditary episodic ataxia. Rev Neurol (Paris). 2011; 67(5):401-7.
  • 27. Tan H, Qurashi A, Poidevin M, Nelson DL, Li H, Jin P. Retrotransposon activation contributes to fragile X premutation rCGG-mediated neurodegeneration. Hum Mol Genet. 2012;21(1):57-65.
  • 28. Naik S, Pohl K, Malik M, Siddiqui A, Josifova D. Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene. Pediatr Neurol. 2011;45(5):328-30.
  • 29. Perlman SL. Cerebellar Ataxia. Curr Treat Options Neurol. 2000;3:215-24.
  • 30. van de Warrenburg BPC, van Gaalen J, Boesch S, et al. EFNS/ENS consensus on the diagnosis and management of chronic ataxias in adulthood. Eur J Neurol. 2014;21:552-62.
  • 31. Gabsi S, Gouider-Khouja N, Belal S, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol. 2001;5:477-81.
  • 32. Lorincz MT. Recognition and Treatment of Neurologic Wilson's Disease, Semin Neurol. 2012;32(5):538-43. 33. Lamperti C, Naini A, Hirano M, et al. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology. 2003;60(7):1206-8.
  • 34. Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH. Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol. 2008;12:1371-9.
  • 35. Hadjivassiliou M, Sanders DS, Woodroofe N, Williamson C, Grünewald RA. Gluten ataxia. Cerebellum. 2008;7(3):494-8.
Toplam 34 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular İç Hastalıkları
Bölüm Derleme
Yazarlar

Anıl Tanburoğlu Bu kişi benim

Mehmet Karataş Bu kişi benim

Yayımlanma Tarihi 1 Ağustos 2017
Gönderilme Tarihi 28 Şubat 2018
Yayımlandığı Sayı Yıl 2017 Cilt: 4 Sayı: 2

Kaynak Göster

APA Tanburoğlu, A., & Karataş, M. (2017). Ataxias: Pathogenesis, Types, Causes and Treatment. Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi, 4(2), 32-39.
AMA Tanburoğlu A, Karataş M. Ataxias: Pathogenesis, Types, Causes and Treatment. MMJ. Ağustos 2017;4(2):32-39.
Chicago Tanburoğlu, Anıl, ve Mehmet Karataş. “Ataxias: Pathogenesis, Types, Causes and Treatment”. Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi 4, sy. 2 (Ağustos 2017): 32-39.
EndNote Tanburoğlu A, Karataş M (01 Ağustos 2017) Ataxias: Pathogenesis, Types, Causes and Treatment. Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi 4 2 32–39.
IEEE A. Tanburoğlu ve M. Karataş, “Ataxias: Pathogenesis, Types, Causes and Treatment”, MMJ, c. 4, sy. 2, ss. 32–39, 2017.
ISNAD Tanburoğlu, Anıl - Karataş, Mehmet. “Ataxias: Pathogenesis, Types, Causes and Treatment”. Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi 4/2 (Ağustos 2017), 32-39.
JAMA Tanburoğlu A, Karataş M. Ataxias: Pathogenesis, Types, Causes and Treatment. MMJ. 2017;4:32–39.
MLA Tanburoğlu, Anıl ve Mehmet Karataş. “Ataxias: Pathogenesis, Types, Causes and Treatment”. Muğla Sıtkı Koçman Üniversitesi Tıp Dergisi, c. 4, sy. 2, 2017, ss. 32-39.
Vancouver Tanburoğlu A, Karataş M. Ataxias: Pathogenesis, Types, Causes and Treatment. MMJ. 2017;4(2):32-9.