Síndromes hipercinéticos » Ataxias » Bibliografía

Bibliografía

1. Bradley WG, Daroff RB, Fenichel G, Jankovic J. Neurology in Clinical Practice. 5th Edition. 2008; Butterworth Heinemann-Elsevier.
2. López-Arlandis JM, Vílchez JJ, Palau F, Sevilla T. Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis. Neuroepidemiology. 1995;14:14-9.
3. Infante J, Combarros O, Volpini V, Corral J, Llorca J, Berciano J. Autosomal dominant cerebellar ataxias in Spain: molecular and clinical correlations, prevalence estimation and survival analysis. Acta Neurol Scand. 2005;111:391-9
4. Naidich TP, Duvernoy HM, Delman BN, Sorensen AG. Kollias SS, Haacke EM. Duvernoy's Atlas of the Human Brain Stem and Cerebellum. SpringerWienNewYork. ISBN 978-3-211-73970-9.
5. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3:291-304.
6. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007;130:2484-93.
7. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007;6:245-57.
8. Espinós-Armero C, González-Cabo P, Palau-Martínez F. Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology. Rev Neurol. 2005;41:409-22.
9. Schöls L, Amoiridi G, Przuntek H, Frank G, Epplen JT, Epplen C. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain. 1997;120:2131-40.
10. Tonon C, Lodi R. Idebenone in Friedreich's ataxia. Expert Opin Pharmacother. 2008;9:2327-37.
11. Cavalier L, Ouahchi K, Katden HJ, et al. Ataxia with isolated vitamin E defi ciency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 1998;62:301-10.
12. Gabsi S, Gouider-Khouja N, Belal S, et al. Eff ect of vitamin E supplementation in patients with ataxia with vitamin E defi ciency. Eur J Neurol 2001;8:477-81.
13. Wang J, Hegele RA. Microsomal triglyceride transfer protein (MTP) gene mutations in canadian subjects with abetalipoproteinemia. Hum Mutat 2000;15:294-95.
14. Wills AJ, Manning NJ, Reilly MM. Refsum’s disease. Q J Med 2001;94:403-06.
15. Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zarodd CM, Kolodny EH. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 aff ected patients. Genet Med 2005;7:119-23.
16. Verrips A, Hoefsloot LH, Steenbergen GCH, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 2000; 123: 908–19.
17. Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair.2004;3: 1187-96.
18. Le Ber I, Moreira MC, Rivaud-Pechoux S, Chamayou C, Ochsner F, Kuntzer T, et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 2003;126: 2761-72.
19. Le Ber I, Bouslam N, Rivaud-Pechoux S, et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain 2004; 127: 759–67.
20. Eirís-Puñal J, Gómez-Lado C, Castro-Gago M. Non-progressive congenital ataxias. Rev Neurol. 2006;43:621-9.
21. Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol. 2007;6:45-55.
22. Yokota O, Tsuchiya K, Terada S, et al. Frequency and clinicopathological characteristics of alcoholic cerebellar degeneration. Acta Neuropathol 2006; 112:43-51.
23. Dalmau J, Rosenfeld MR. Paraneoplastic syndromes of the CNS. Lancet Neurol 2008;7: 327-40.
24. Shams’ili S, Grefkens J, de Leeuw B, et al. Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients. Brain 2003;126:1409-18.
25. Manto MU, Laute MA, Aguera M, Rogemond V, Pandolfo M, Honnorat J. Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseases. Ann Neurol 2007;61:544-51.
26. Fearnley JM, Stevens JM, Rudge P. Superficial siderosis of the central nervous system. Brain 1995;118:1051-66.
27. Kumar N. Neuroimaging in Superficial Siderosis: An In-Depth Look. Am J Neuroradiol. 2010; 31:5-14.
28. Parchi P, Castellani R, Capellari S, Ghetti B, Young K, Chen SG, et al. Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann Neurol. 1996;39:767-78.
29. Wenning GK, Colosimo C, Geser F, Poewe W. Multiple system atrophy. Lancet Neurol 2004; 3:93-103.
30. Klockgether T, Schroth G, Diener HC, Dichgans J. Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology. J Neurol Neurosurg Psychiatry 1990;53:297-305.
31. Trujillo-Martin MM, Serrano-Aguilar P, Monton-álvarez F, Carrillo-Fumero R. Effectiveness and Safety of Treatments for Degenerative Ataxias: A Systematic Review. Mov Disord 2009;24: 1111-24.