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2019, Number 2

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Correo Científico Médico 2019; 23 (2)

Main neurophysiological, clinical and genetics advances on Hereditary cerebellar ataxias

Rodríguez PJM, Núñez AE, Rojas RY, Aguilera SY, Amieiro PM, Sarmiento OMA
Full text How to cite this article

Language: Spanish
References: 25
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Key words:

hereditary cerebellar ataxias, genetic assessment, molecular biology, phenotypes.

ABSTRACT

The term “Hereditary cerebellar ataxia” comprises a wide spectrum of neurological disorders where ataxia is the main symptom. Hereditary ataxias are a complex group of entities, in which detection is essential for an adequate genetic assessment, satisfactory clinical control and in some cases, a suitable therapeutic approach. Clinical semiology variety and molecular biology advanceshave become hereditary ataxias one of the most interesting subjects inside neurology. Subtypes clinical diagnosis of ataxias is complicated by the salient overlap of phenotypes between genetic subtypes. In this article, we refer to the most important neurophysiological, clinical and genetics advances of hereditary cerebellar ataxias.


REFERENCES

  1. Velázquez Pérez L .Introducción al estudio de las ataxias espinocerebelosas. En: Ataxia espinocerebelosa tipo 2. Diagnóstico, pronóstico y evolución. 3a ed. La Habana: Ciencias Médicas; 2012.p.1-26.

  2. Rosenberg NR. Classification of the Spinocerebellar Ataxias. En: Kasper DL, Hauser SL, Jameson JL, Fauci AS, Longo DL, Loscalzo JA. Harrison´s Principles of Internal Medicine. 19th ed. New York: McGraw-Hill; 2015.p.451e.

  3. Klockgether T. Ataxias. En: Goetz CG. Textbook of Clinical Neurology. Philadelphia: Saunders Elsevier; 2016.p.765-780.

  4. Steinlin M. Non-progressive congenital ataxias. Brain Dev .1998 [citado 25 ago 2017]; 20(4):199-208.Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0387760498000199

  5. Sattar S, Gleeson JG. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders. Dev Med Child Neurol. 2011[citado 25 ago 2017]; 53(9):793-798.Disponible en: https://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2011.04021.x

  6. Pandolfo M, Manto M.Cerebellar and Afferent Ataxias. Continuum. 2013[citado 25 ago 2017]; 19 (5): 1312-1343.Disponible en: http://europepmc.org/abstract/med/24092292

  7. Ghizoni Teive HA. Ataxias. En: Micheli F, Luquin-Puido MR. Movimientos Anormales, Clinica y terapeutica. Buenos Aires: Panamericana; 2015. p. 423-448.

  8. Subramony SH, Xia G.Disorders of the Cerebellum, Including the Degenerative Ataxias. En: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC. Bradley’s Neurology in Clinical Practice. 6ta ed. Miami: Elsevier Saunders; 2016. p. 1802-1823.

  9. Berciano J, Polo JM, Infante J, Zarranz JJ. Enfermedades degenerativas Espinales y espinocerebelosas. En: Zarranz JJ. Neurología. 5ta ed. España: Elsevier; 2013. p. 523-536.

  10. Holloway TP, Rowley SM, Delatycki MB, Sarsero JP.Detection of interruptions in the GAA trinucleotide repeat expansion in the FXNgene of Friedreich ataxia. Biotechniques. 2011[citado 25 ago 2017]; 50(3):182-186.Disponible en: https://www.future-science.com/doi/10.2144/000113615

  11. Koeppen AH. Friedreich’s ataxia: pathology, pathogenesis and molecular genetics. J Neurol Sci. 2011[citado 27 sep 2017]; 303(1-2): 1-12.Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062632/

  12. Saccá F, Puorro G, Antenora A, Marsili A,Denaro A, Piro R, et al. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PloS One. 2011[citado 29 sep 2017]; 6(3): 17627.Disponible en: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0017627

  13. Schmucker S, Puccio H. Understanding the molecular mechanisms of Friedreich’s ataxia to develop therapeutic approaches. Hum Mol Genet. 2010[citado 29 sep 2017]; 19(R1): 103-110. Disponible en:https://academic.oup.com/hmg/article/19/R1/R103/624761

  14. Rosenberg NR. Ataxic Disorders. En: Kasper DL, Hauser SL, Jameson JL, Fauci AS, Longo DL, Loscalzo JA. Harrison´s Principles of Internal Medicine. 19 th ed. New York: McGraw-Hill; 2015. p. 2626-2631.

  15. Wood N. Cerebellar Ataxias and Related Conditions. En: Clarke Ch, Howard R, Rossor M, Shorvon S. Neurology: A Queen Square Textbook.2thed. London: Wiley-Blackwell; 2016. p. 629-643.

  16. Ropper AH, Samuels A. Degenerative Diseases of the Nervous System. En: Adams & Victors' Principles of Neurology. 10th ed. Philadelphia: McGraw-Hill; 2014. p.1060-1131.

  17. Cortés Velarde M, Martínez Rivera M, Menéndez González M. Otros parkinsonismos de base genética: ataxias espinocerebelosas, síndrome temblor-ataxia asociado a premutación x frágil y xantomatosis cerebrotendinosa. Rev Neurolog. 2012[citado 29 sep 2017]; 54 (Supl 4): 83-92.Disponible en: www.revneurol.com/sec/resumen.php?id=2012521

  18. Saunders-Pullman RJ, Bressman SB, Rosenberg RN. Autosomal Recessive Ataxias. En: Rowland LP, Pedley TA. Merritt's Neurology. 12th ed. New York: Lippincott & Williams; 2014.p.359-366.

  19. Jacquemont S, Hagerman RJ, Leehey M, Grysby J,Zhang L, Brunberg JA,et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. AJ HG. 2003[citado 11 may 2015]; 72(4):869-878. Disponible en: https://www.cell.com/ajhg/fulltext/S0002-9297(07)60609-0

  20. Goodlin Jones BL, Tassone F, Gane LW, Hagerman RJ. Autistic spectrum disorder and fragile X permutation. J Dev Behav Pediatr. 2004[citado 22 feb 2015); 25(6): 392-398.Disponible en: https://journals.lww.com/jrnldbp/Abstract/2004/12000/Autistic_Spectrum_Disorder_and_the_Fragile_X.2.aspx

  21. Harding AE. Clinical features and classification of inherited ataxias. En: Harding AE, Deufel T. Inherited ataxias. New York: Raven; 1993.p.1-14.

  22. González Zaldívar Y, Almaguer Mederos LE, Laffita Mesa JM, Vázquez Mojena Y, Sánchez Cruz G, Cruz Mariño T, et al. Primeras familias diagnosticadas con la enfermedad de Machado Joseph en la población cubana. CCM. 2012[citado 29 sep 2017]; 16(3 Supl 1). Disponible en: www.revcocmed.sld.cu/index.php/cocmed/article/view/882/0

  23. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010[citado 2 oct 2017];9(9):885-894. Disponible en: https://www.sciencedirect.com/science/article/pii/S1474442210701836

  24. Rodríguez Pupo JM, Díaz Rojas YV, Rojas Rodríguez Y, Rodríguez Batista Y, Núñez Arias E. Actualización en enfermedad de Huntington. CCM. 2013 [citado 2 oct 2017]; 17 (4 Supl1):546-557.Disponible en:http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1560-43812013000500003&lng=es

  25. Laffita Mesa JM. Ataxia Espinocerebelosa Tipo 2. Fundamentos Moleculares de la Predisposición genética a las Expansiones Trinucleotídicas en el gen ATXN2. Rev Anales Academ Cien Cuba. 2014[citado 2 oct 2017];4(2). Disponible en: http://www.revistaccuba.cu/index.php/revacc/article/view/172




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Correo Científico Médico. 2019;23