Ataxias heredodegenerativas
| Contribuinte(s) |
Pedraza Linares, Olga Lucía |
|---|---|
| Data(s) |
15/07/2013
|
| Resumo |
Descripción de las ataxias heredodegenerativas con énfasis en la semiología general de este tipo de enfermedades y la fisiopatología de los grandes grupos de ataxias. NEURODEGENERATIVE DISEASES NAMED AS ATAXIA CONSTITUTES THE MOST COMMON PATHOLOGY INBETWEEN DEGENERATIVE DISEASES THAT AFFECT CEREBELLUM AND SPINE. THE PURPOSE OF THE SUBSEQUENT PAGES HAS TO BE WITH THE PATHOPHYSIOLOGY OF THIS WIDE GROUP OF ENTITIES AND THEIR PRESENTATION, THE LIMITATIONS OF DIAGNOSIS AND THE NARROW WAY OF TREATMENT |
| Formato |
application/pdf |
| Identificador | |
| Idioma(s) |
spa |
| Publicador |
Facultad de Medicina |
| Direitos |
info:eu-repo/semantics/openAccess |
| Fonte |
reponame:Repositorio Institucional EdocUR instname:Universidad del Rosario Botez- Marquard Th, Lalonde R et cols. Le cervelet comportemente moteur et non moteur. En: Neuropsichologie Clinique et Neurologie du comportement. Botez Marquar-Th and Boller F (eds).Les presses de l´Université de Montréal, 2005: 295-315 Pedraza OL, Prieto JC, Casasbuenas OL and Espinosa E. Identificación clínica de las ataxias hereditarias: estudio de 38 casos en Colombia. Rev Neurol 1997; 25:1016-1022 Pedraza OL y Yepes M. Ataxias y enfermedades del cerebelo en: Neurología. Segunda Edición: Toro J, Yepes M, Palacios E. (Ed) Manual Moderno, Bogotá; 2010: p 669-681 Pandolfo, M. Friedreich ataxia: the clinical picture. J Neurol, 2009; 256 Suppl 1, 3–8 Pedraza OL. Botez MI, Vezina JL. Medidas del Tallo cerebral en pacientes con ataxias hereditarias. Una ayuda útil en la valoración radiológica. Acta Neurol Colombiana 1994; 10: 61-66 Campuzano, V. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 1996; 271, 1423–1427 Durr A, Cossee M, Agid Y et al. Clinical and genetic abnormalities in patients with Friedreich’s ataxia. N Engl J Med 1996; 335: 1169-75 Prieto JC, Pedraza OL, Gómez ML y Duran C. Análisis Molecular de la Ataxia de Friedreich en Colombia. Acta Neurol Colomb 2004; 20: 7-12 Pedraza OL, Botez MI. Status of thiamine in inherited ataxias. J Neurol, Neurosurg and Psychiatry, 1992; 55:136-137 Botez MI, Botez T, Elie R, Amantadine hydrochloride treatment in heredodegenerative ataxias, a double blind, study. J Neurol Neurosurg and Psychiatry, 1996; 61:259-264 Palau, F. and Espinós, C. Autosomal recessive cerebellar ataxias. Orphanet journal of rare diseases, 2006; 1, 47 Date, H. et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet, 2001: 29, 184–188 Anheim, M. et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 2009; 132, 2688–2698 Sadeh, M. and Lossos, A. Cerebellar T2 hyperintensities in a patient with tremor. Neurology, 2008; 70, 578 Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol, 2010 sept;9(9) 885-894. Review Fowler CJ, Kaufmann H, Klockgether T, et als. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008; 71(9):670-6 Kearney M, Orrell RW, Fahey M, Pandolfo M. Antioxidants and other pharmacological treatments for Friedreich ataxia (Review)The Cochrane Collaboration and published in The Cochrane Library 2010, Issue 2 www.ataxia.org www.ataxia.org.uk |
| Palavras-Chave | #ATAXIA - DIAGNÓSTICO #ATAXIA - ETIOLOGÍA #ATAXIA - TRATAMIENTO #ENFERMEDADES HEREDITARIAS #NEUROLOGÍA - INVESTIGACIONES #ATAXIA #HEREDITARY #NEURODEGENERATIVE #DISEASE #CEREBELLUM #PROPRIOCEPTION |
| Tipo |
info:eu-repo/semantics/bachelorThesis info:eu-repo/semantics/acceptedVersion |
