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Academia Mexicana de Neurología, A.C.

2011, Number 2

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Rev Mex Neuroci 2011; 12 (2)

Disautonomic features in presyntomatic subjects and patients with type 2 spinocerebellar ataxia

Montes BJ, Estévez BM, Almaguer MLE

Language: Spanish
References: 52
Page: 76-81
PDF size: 184.64 Kb.


ABSTRACT

Background: Patients with type 2 spinocerebellar ataxias (E-SCA2) frequently complaint about symptoms of the autonomous nervous system (ANS). Nowadays, it is not clear if these patients present abnormalities in the regulation of the ANS during the presymptomatic stage of the disease (PS-SCA2). Objective: To determine the presence of autonomic dysfunction in E-SCA2 and PS-SCA2. We hypothesized that the rate of autonomic symptoms in carriers of the SCA2-gene mutation is higher than in healthy control subjects. Patients and methods: Ninety seven E-SCA2 and forty eight PS-SCA2 genetically diagnosed patients were assessed using the standardized clinical autonomic Scale for Outcomes in Parkinson’s disease (SCOPA-AUT). The markers were compared with healthy subjects, similar in age and sex. Results: The patients and PS-SCA2 showed an increase in the rate and severity of the disautonomic symptoms than those of the control group, predominating symptoms related to the urinary (39.7%) and gastrointestinal (30.6%) system; where constipation (19.3%) and pollakiunia (17.7%) were frequent in PS-SCA2 and pollakiunia (19%), nicturia (12.7%) and dysphagia (12.1%) in E-SCA2 group. No symptoms were reported by 23 (47.9%) PSSCA2 and 32 (33%) E-SCA2. A weak but significant correlation (‹ 0.35) were found between the total score of SCOPA-AUT and CAG, the motor scale (ICARS) and illness duration. Conclusion: The carries of the SCA2- gen mutation shows progressive symptoms from the presymptomatic stage. This is the first report that shows clinical autonomic dysfunction in PS-SCA2 subjects


REFERENCES

  1. Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004; 61(5): 727-33.

  2. Klockgether T. Ataxias. Diagnostic procedure and treatment. Nervenarzt 2005; 76(10): 1275-83.

  3. Dur A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010; 9: 885-94.

  4. Veláquez L, Sánchez G, Santos N, Almaguer L, Escalona K, Rodríquez R, et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holquin. Neuroscience Letter 2009; 454: 157-60.

  5. Velázquez-Pérez L, Sánchez-Cruz G, Canales-Ochoa N, Rodríguez-Labrada R, Rodríguez-Díaz J, Almaguer-Mederos L, et al. Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2. J Neurol Sci 2007; 263: 158-64.

  6. Velazquez PL, Seifried C, Santos-Falcon N, Abele M, Ziemann U. Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol. 2004; 56: 444-7.

  7. Velázquez PL, Medina EE. Caracterización electrofisiológica en familiares asintomáticos de enfermos con ataxia espinocerebelosa tipo 2. Rev Neurol 1998; 27: 921-6.

  8. Trouillas PTT, Hallett M, Currier RD, Subramony SH, Wesse K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci 1997; 145: 205-11.

  9. Visser M, Marinus J, Stiggelbout AM, Jacobus J, Hilten V. Assessment of autonomic dysfunction in Parkinsons disease: The SCOPA-AUT. The Movement Disorders. 2004; 19(11): 1306-12.

  10. Martí-Martínez S, Monge-Argilés JA, Sánchez-Payá J, Turpín-Fenoll L, Martín-Estefanía C, Leiva-Santana C. Versión española del test perfil de síntomas autonómicos. Rev Neurol 2009; 49(11): 577-80.

  11. Suárez G, Opfer-Gehrking T, Offord K, Atkinson E, OBrien P, Low P. The Autonomic Symptom Profile. A new instrument to assess autonomic symptoms. Neurology 1999; 52: 523-8.

  12. Kuriyama N, Mizuno T, Lida A, Watanabe Y, Nakagawa M. Autonomic nervous evaluation in the early stage of olivopontocerebellar atrophy. Auton Neurosci 2005; 123: 87-93.

  13. Kuroiwa Y, Shimada Y, Toyokura Y. Postural hypotension and low R-R interval variability in parkinsonism, spinocerebellar degeneration, and Shy-Drager syndrome. Neurology 1983; 33(4): 463-7.

  14. Yeh T, Lu CS, Wu Chou YH, Chong CC, Wu T, Han NH. Autonomic Dysfuntion in Machado-Joseph Disease. Arch Neurol 2005; 62: 630-6.

  15. Sanchez-Cruz G, Velazquez-Perez L, Gomez-Pena L, Martinez-Gongora E, Castellano-Sanchez G, Santos-Falcon N. Dysautonomic features in patients with Cuban type 2 spinocerebellar ataxia. Rev Neurol 2001; 33(5): 428-33.

  16. Pradhan C, Yashavantha BS, Pal PK, Sathyaprabha TN. Spinocerebellar ataxias type 1, 2 and 3: a study of heart rate variability. Acta Neurol Scand 2007;117: 337-42.

  17. De Joanna G, De Rosa A, Salvatore E, Castaldo I, De Luca N, Izzo R, et al. Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: A cardiovascular neurophysiologic study. J Neurol Sci 2008; 275: 60-3.

  18. Orozco D, Nodarse FA, Cordovés SR, Auburger G. Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology 1990; 40: 1369-75.

  19. Oka H, Yoshioka M, Onouchi K MM, Mochio S, Suzuk Mi, Hirai T, et al. Characteristics of orthostatic hypotension in Parkinsons disease. Brain 2007; 130: 2425-32.

  20. 20 Netravathi M, Sathyaprabha TN, Jayalaxmi K, Datta P, Nirmala M, Pal PK. A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias. Acta Neurol Scand 2009; 120(3): 204-9.

  21. Low PA, Ángstrom JW. Trastorno del Sistema Nervioso Autónomo. En: Harrison Principios de Medicina Interna. Mexico: McGraw Hill; 2006, p. 2673-9.

  22. Boulton A, Vinik AI, Arezzo JC, Bril V, Feldman EL, Freeman R, Malik RA. Diabetic neuropathies: a statement by the American Diabetes Association. Diabetes Care 2005; 28: 956-62.

  23. Montes-Brown J, Sánchez-Cruz G, García AM, Báez ME, Velázquez- Pérez L. Heart rate variability in type 2 spinocerebellar ataxia. Acta Neurol Scand 2010, DOI: 10.1111/j.1600-0404.2009.01320.x.

  24. Ewing DJ, Martyn CN, Young RJ, Clarke BF. The value of cardiovascular autonomic function tests: 10 years experience in diabetes. Diabetes Care 1985; 8(5): 491-8.

  25. Vinick A, Ziegler D. Diabetic Cardiovascular Autonomic Neuropathy. Circulation 2007; 115: 387-97.

  26. Low PA. Composite Autonomic Scoring Scale for Laboratory Quantification of Generalize Autonomic Failure. Mayo Clin Proc 1993; 68: 748-52.

  27. Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 2004; 61(5): 727-33.

  28. Klockgether T. Ataxias. Diagnostic procedure and treatment. Nervenarzt 2005; 76(10): 1275-83.

  29. Dur A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010; 9: 885-94.

  30. Veláquez L, Sánchez G, Santos N, Almaguer L, Escalona K, Rodríquez R, et al. Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holquin. Neuroscience Letter 2009; 454: 157-60.

  31. Velázquez-Pérez L, Sánchez-Cruz G, Canales-Ochoa N, Rodríguez-Labrada R, Rodríguez-Díaz J, Almaguer-Mederos L, et al. Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2. J Neurol Sci 2007; 263: 158-64.

  32. Velazquez PL, Seifried C, Santos-Falcon N, Abele M, Ziemann U. Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2. Ann Neurol. 2004; 56: 444-7.

  33. Velázquez PL, Medina EE. Caracterización electrofisiológica en familiares asintomáticos de enfermos con ataxia espinocerebelosa tipo 2. Rev Neurol 1998; 27: 921-6.

  34. Trouillas PTT, Hallett M, Currier RD, Subramony SH, Wesse K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci 1997; 145: 205-11.

  35. Visser M, Marinus J, Stiggelbout AM, Jacobus J, Hilten V. Assessment of autonomic dysfunction in Parkinsons disease: The SCOPA-AUT. The Movement Disorders. 2004; 19(11): 1306-12.

  36. Martí-Martínez S, Monge-Argilés JA, Sánchez-Payá J, Turpín-Fenoll L, Martín-Estefanía C, Leiva-Santana C. Versión española del test perfil de síntomas autonómicos. Rev Neurol 2009; 49(11): 577-80.

  37. Suárez G, Opfer-Gehrking T, Offord K, Atkinson E, OBrien P, Low P. The Autonomic Symptom Profile. A new instrument to assess autonomic symptoms. Neurology 1999; 52: 523-8.

  38. Kuriyama N, Mizuno T, Lida A, Watanabe Y, Nakagawa M. Autonomic nervous evaluation in the early stage of olivopontocerebellar atrophy. Auton Neurosci 2005; 123: 87-93.

  39. Kuroiwa Y, Shimada Y, Toyokura Y. Postural hypotension and low R-R interval variability in parkinsonism, spinocerebellar degeneration, and Shy-Drager syndrome. Neurology 1983; 33(4): 463-7.

  40. Yeh T, Lu CS, Wu Chou YH, Chong CC, Wu T, Han NH. Autonomic Dysfuntion in Machado-Joseph Disease. Arch Neurol 2005; 62: 630-6.

  41. Sanchez-Cruz G, Velazquez-Perez L, Gomez-Pena L, Martinez-Gongora E, Castellano-Sanchez G, Santos-Falcon N. Dysautonomic features in patients with Cuban type 2 spinocerebellar ataxia. Rev Neurol 2001; 33(5): 428-33.

  42. Pradhan C, Yashavantha BS, Pal PK, Sathyaprabha TN. Spinocerebellar ataxias type 1, 2 and 3: a study of heart rate variability. Acta Neurol Scand 2007;117: 337-42.

  43. De Joanna G, De Rosa A, Salvatore E, Castaldo I, De Luca N, Izzo R, et al. Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: A cardiovascular neurophysiologic study. J Neurol Sci 2008; 275: 60-3.

  44. Orozco D, Nodarse FA, Cordovés SR, Auburger G. Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology 1990; 40: 1369-75.

  45. Oka H, Yoshioka M, Onouchi K MM, Mochio S, Suzuk Mi, Hirai T, et al. Characteristics of orthostatic hypotension in Parkinsons disease. Brain 2007; 130: 2425-32.

  46. 20 Netravathi M, Sathyaprabha TN, Jayalaxmi K, Datta P, Nirmala M, Pal PK. A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias. Acta Neurol Scand 2009; 120(3): 204-9.

  47. Low PA, Ángstrom JW. Trastorno del Sistema Nervioso Autónomo. En: Harrison Principios de Medicina Interna. Mexico: McGraw Hill; 2006, p. 2673-9.

  48. Boulton A, Vinik AI, Arezzo JC, Bril V, Feldman EL, Freeman R, Malik RA. Diabetic neuropathies: a statement by the American Diabetes Association. Diabetes Care 2005; 28: 956-62.

  49. Montes-Brown J, Sánchez-Cruz G, García AM, Báez ME, Velázquez- Pérez L. Heart rate variability in type 2 spinocerebellar ataxia. Acta Neurol Scand 2010, DOI: 10.1111/j.1600-0404.2009.01320.x.

  50. Ewing DJ, Martyn CN, Young RJ, Clarke BF. The value of cardiovascular autonomic function tests: 10 years experience in diabetes. Diabetes Care 1985; 8(5): 491-8.

  51. Vinick A, Ziegler D. Diabetic Cardiovascular Autonomic Neuropathy. Circulation 2007; 115: 387-97.

  52. Low PA. Composite Autonomic Scoring Scale for Laboratory Quantification of Generalize Autonomic Failure. Mayo Clin Proc 1993; 68: 748-52.




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