Neuroanatomic Aspects And Clinical Correlations Of Friedreich’s Ataxia
DOI:
https://doi.org/10.34024/rnc.2013.v21.8186Keywords:
Friedreich Ataxia, Anatomy, Pathology, NeurologyAbstract
Objective. To describe the pathology of Friedreich’s Ataxia and correlate its clinical aspects to the study of affected nervous structures in this disease. Method. The search for materials was carried out during July-2011 to January-2013. The materials were published in Portuguese, English, French or Spanish and were sought in digital databases without restriction on publication date. Also were used books of author’s personal collection. Results. In FA some nervous cells degenerate, especially kinesthetic sensory fibers. The central lesions occur in the cerebellum, where the lesions are in the cortex, the vermis and the dentate nucleus; in the brainstem, where there is greater involvement in spinocerebellars tracts, and lower in vestibular nucleus and vagus nerve nucleus; in the spinal cord, where degeneration occurs in the posterior funiculi and espinocerebelares and corticospinal tracts; in the PNS, where there is degeneration in large caliber myelinated fibers; and the sense organs. Conclusion. The knowledge of neuroanatomical and clinical aspects are essential for professionals in health, in view of the importance of this nosological entity and its complex and multifactorial clinical condition.
Metrics
References
Machado A. Neuroanatomia Funcional. 2 ed. São Paulo: Atheneu, 2006, 363p.
Stump E. This Way In: Friedreich’s Ataxia. Neurology Now 2010;6:12-3.
Albano LMJ, Kim CA. Análise clínica e molecular da ataxia de Friedreich: revisão da literatura. Pediatria 2001; 23:241-50.
Di Donato S, Gellera C, Mariotti C. The complex clinical and genetic classification of inherited ataxias: II. Autosomal recessive ataxias. Neurol Sci 2001;22:219-28. http://dx.doi.org/10.1007/s100720100017
Wilkinson I, Graham L. Essential Neurology. 4 ed. Malden: Blackwell Publishing, 2005, 278p.
Schulz TJ, Westermann D, Isken F, Voigt A, Laube B, Thierbach R, et al. Activation of mitochondrial energy metabolism protects against cardiac failure. Aging 2010;2:843-53.
Brice A. Ataxie de Friedreich (Endereço na Internet). Paris: Orphanet (atualizado em: 10/04; citado em: 12/11). Disponível em: http://www.orpha.net/data/patho/Pro/fr/Friedreich-FRfrPro45.pdf.
Mahishi LH, Hart RP, Lynch DR, Ratan RR. miR-886-3p Levels Are Elevated in Friedreich Ataxia. J Neurosci 2012; 32(27):9369-73. http://dx.doi.org/10.1523/JNEUROSCI.0059-12.2012
Feldman EL. Ataxias Cerebelares e Paraplegias Espásticas Hereditárias. In: Goldman L, Ausiello DA. Cecil: Tratado de Medicina Interna. 22 ed. Vol 2. Rio de Janeiro: Elsevier, 2005, 2927p.
Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, et al. The Relationship between Trinucleotide (GAA) Repeat Length and Clinical Features in Friedreich Ataxia. Boston: Am J Hum Genet 1996;59:554-60.
Koeppen AH. Friedreich’s ataxia: Pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011;303(1-2):1-12. http://dx.doi.org/10.1016/j.jns.2011.01.010
Martelli A, Napierala M, Puccio H. Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models. Dis Model Mech 2012;5(2):165-76. http://dx.doi.org/10.1242/dmm.008706
Lalonde R, Strazielle C. Les caractéristiques neuropsychologiques de l’ataxie de Friedreich. Marselha: Rev Neuropsychol 2002;12:437-56.
Rodrigues D, Decoroso E, Gomes E, Espada F, Dias M. Genoma Humano: Ataxia de Friedreich. Lisboa: Ciência Viva, 2003, 12p.
Shidara Y, Hollenbeck PJ. Defects in Mitochondrial Axonal Transport and Membrane Potential without Increased Reactive Oxygen Species Production in a Drosophila Model of Friedreich Ataxia. J Neurosci 2010;30:11369-78. http://dx.doi.org/10.1523/JNEUROSCI.0529-10.2010
Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Gen 1997;6:1771-80. http://dx.doi.org/10.1093/hmg/6.11.1771
Li H, Gakh O, Smith DY 4th, Ranatunga WK, Isaya G. Missense Mutations Linked to Friedreich Ataxia Have Different but Synergistic Effects on Mitochondrial Frataxin Isoforms. J Biol Chem 2013;288:4116-27. http://dx.doi.org/10.1074/jbc.M112.435263
Grotto HZW. Metabolismo do ferro: uma revisão sobre os principais mecanismos envolvidos em sua homeostase. Rev Bras Hematol Hemoter 2008;30:390-97. http://dx.doi.org/10.1590/S1516-84842008000500012
Ferreira ALA, Matsubara LS. Radicais livres: conceitos, doenças relacionadas, sistema de defesa e estresse oxidativo. Rev Ass Med Brasil 1997;43:61-8. http://dx.doi.org/10.1590/S0104-42301997000100014
Synofzik M , Godau J, Lindig T, Schöls L, Berg D. Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich’s Ataxia. Cerebellum 2011;10:9-13. http://dx.doi.org/10.1007/s12311-010-0215-4
Akhlaghi H, Corben L, Georgiou-Karistianis N, Bradshaw J, Storey E, Delatycki MB, et al. Superior Cerebellar Peduncle Atrophy in Friedreich ’s Ataxia Correlates with Disease Symptoms. Cerebellum 2011;10:81-7. http://dx.doi.org/10.1007/s12311-010-0232-3
Marín-Garcia J, Goldenthala MJ. La mitocondria y el corazón. Rev Esp Cardiol 2002;55:1293-310. http://dx.doi.org/10.1016/S0300-8932(02)76802-4
Schmahmann JD. Disorders of the Cerebellum: Ataxia, Dysmetria of Thought, and the Cerebellar Cognitive Affective Syndrome. J Neuropsychiatry Clin Neurosci 2004;16:367-78. http://dx.doi.org/10.1176/appi.neuropsych.16.3.367
Berkow R, Fletcher AJ. Manual Merck de Medicina. 16 ed. São Paulo: Roca, 1995, 6862p.
Magalhães RMC. Um Sistema de Informação e Modelo de Diagnóstico Diferencial no Âmbito de um Rastreio Populacional (Dissertação). Porto: Faculdade de Engenharia da Universidade do Porto, 2005, 134p.
Rohkamm R. Color Atlas of Neurology. Nova Iorque: Thieme, 2004, 440p.
Grupo Brasileiro de Estudos em Síndrome das Pernas Inquietas (GBE-SPI). Síndrome das pernas inquietas: diagnóstico e tratamento. Opinião de especialistas brasileiros. Arq Neuropsiquiatr 2007;65:721-7. http://dx.doi.org/10.1590/S0004-282X2007000400035
