Abordagem clínica de pacientes com ataxia

Autores

  • Clécio de O Godeiro Jr Neurologista, Pós-graduando do Setor de Transtornos do Movimento, UNIFESP
  • André Carvalho Felício Neurologista, Pós-graduando do Setor de Transtornos do Movimento, UNIFESP
  • Sônia Maria Azevedo Silva Doutor em Neurologia, Médico assistente do Setor de Transtornos do Movimento, UNIFESP
  • Vanderci Borges Doutor em Neurologia, Médico assistente do Setor de Transtornos do Movimento, UNIFESP.
  • Henrique Ballalai Ferraz Doutor em Neurologia, Professor afiliado da disciplina de Neurologia e Chefe do Setor de Transtornos do Movimento, UNIFESP

DOI:

https://doi.org/10.34024/rnc.2007.v15.8726

Palavras-chave:

Cerebelo, Ataxia espinocerebelar, Deficiência da Coordenação, Incoordenação

Resumo

Ataxia é um sinal neurológico caracterizado pela incoordenação dos movimentos voluntários e é a principal manifestação de uma síndrome cerebelar. A classificação e o diagnóstico diferencial dos quadros de ataxia são complexos devido a grande variabilidade de etiologias e fenótipos clínicos. Revisamos as principais causas e ferramentas diagnósticas das síndromes atáxicas.

Referências

Klockgether T. Handbook of Ataxia Disorders. New York: Mercel Dekker 2000, 692p.

Brazis PW, Masdeu JC, Biller J. Localization in Clinical Neurology. 4th edition. Philadelphia: Lippincott Williams & Williams, 2001, 598p.

Haerer AF. DeJong`s: The Neurological Examination. 5th edition. Philadelphia: Lippincott Williams & Williams, 1992, 844p.

Friedreich N. Über degenerative Atrophie der spinalen Hintersträngen. Virchows Arch Pathol Anat Physio 1863; 22:1-26. DOI: https://doi.org/10.1007/BF01938516

Massaquoi SG, Hallett M. Ataxia and other cerebellar syndromes. In: Jankovic JJ, Tolosa E. Parkinson´s Disease and Movement Disorders. 4th edition. Philadelphia: Lippincott Williams & Williams, 2002, p393-408.

Wüller U, Klockgether T, Petersen D, Naegele T, Dichgans J. Magnetic Resonance imaging in hereditary and idiopathic ataxia. Neurology 1993; 43: 318-325. DOI: https://doi.org/10.1212/WNL.43.2.318

De Michelle G, Coppola G, Cocozza S, Filla A. A pathogenetic classification of hereditary ataxias: is the time ripe. J Neurol 2004; 251:913-922. DOI: https://doi.org/10.1007/s00415-004-0484-2

DiDonato S, Gallera C, Mariotti C. The Complex clinical and gentic classification of inherited ataxias II: autosomal recessive ataxias. Neurol Sci 2001; 22(3): 219-228. DOI: https://doi.org/10.1007/s100720100017

Schöls L, Bauer P, Schimdt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004; 3: 291-304. DOI: https://doi.org/10.1016/S1474-4422(04)00737-9

Wenning GK, Colosimo C, Geser F, Poewe W. Multiple System Atrophy. Lancet Neurol 2004; 3: 93-103 . DOI: https://doi.org/10.1016/S1474-4422(03)00662-8

Darnell RB, Posner JB. Paraneoplasic syndromes involving the nervous system. N Engl J Med 2003; 349: 1543-1554. DOI: https://doi.org/10.1056/NEJMra023009

Peterson K, Rosenblwa MK, Kotaraides H, Posner JB. Paraneoplasic cerebellar degeneration: A clinical analysis of 55 anti-Yo antibody positive patients. Neurology 1992; 42: 1931-1937. DOI: https://doi.org/10.1212/WNL.42.10.1931

Malluci G, Collinge J. Update on Creutzfeldt-Jakob disease. Curr Opin Neurol 2004; 17: 641-647. DOI: https://doi.org/10.1097/00019052-200412000-00002

Castellani RJ, Colucci M, Xie Z, Zou W, Li C, Parchi P, et al. Sensitivity of 14-3-3 protein test varies in subtypes of sporadic Creutzfeldt-Jakob disease. Neurology 2004; 63: 436-442. DOI: https://doi.org/10.1212/01.WNL.0000135153.96325.3B

Shiga Y, Miyazawa K, Sato S, Fukushima R, Shibuya S, Sato Y, et al. Diffusionweighted MRI abnormalities as an early diagnostic marker for CreutzfeldtJakob disease. Neurology 2004; 63: 443- 449. DOI: https://doi.org/10.1212/01.WNL.0000134555.59460.5D

Kinney HC, Burger PC, Hurwitz BJ. Degeneration of the central nervous system associated with celiac disease. J Neurol Sci 1982; 53: 9-13. DOI: https://doi.org/10.1016/0022-510X(82)90076-4

Chinnerey PF, Reading PJ, Milne D, Gardner-Medwin D, Turnbull DM. CSF anti-gliadin antibodies and the Ramsey-Hunt syndrome. Neurology 1997; 49: 1131-1133. DOI: https://doi.org/10.1212/WNL.49.4.1131

Filla A, De Michelle G, Barbieri F, Campanella G. Early onset hereditary ataxias of unknown origin etiology: review of a personal series. Acta Neurol (Napoli) 1992; 14(4-6): 420-430.

Arruda WO, Teive HAG. Ataxias cerebelares hereditárias: do martelo ao gen. Arq Neuropsiquiatr 1997; 55(3B): 666-676. DOI: https://doi.org/10.1590/S0004-282X1997000400027

Harding AE. Classification of the Hereditary Ataxias and Paraplegias. Lancet 1983; 1: 1151- 1155. DOI: https://doi.org/10.1016/S0140-6736(83)92879-9

Manto MU. The wide spectrum of spinocerebelar ataxias (SCAs). The Cerebellum 2005; 4: 2-6. DOI: https://doi.org/10.1080/14734220510007914

Jardim LB, Silveira I, Pereira ML. A survey of spinocerebellar ataxia in South Brazil – 66 new cases with Machado-Joseph disease, SCA7, or unidentified disease causing mutations. J Neurol 2001; 248: 870-876. DOI: https://doi.org/10.1007/s004150170072

Teive HAG, Roa BB, Raskin S. Clinical Phenotype of Brazilian families with Spinocerebellar Ataxia 10. Neurology 2004; 63: 1509-1512. DOI: https://doi.org/10.1212/01.WNL.0000142109.62056.57

Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. Neurology 1978; 28: 248-250. DOI: https://doi.org/10.1212/WNL.28.7.703

Jardim LB, Pereira ML, Ferro A. Machado-Joseph disease in South Brazil – clinical ad molecular characterization of Kindreds. Acta neurol Scand 2001; 104: 224-231. DOI: https://doi.org/10.1034/j.1600-0404.2001.00020.x

Titica J, Van Bogaert L. Heredo-degenerative hemiballismus. Brain 1946; 69:251-262. DOI: https://doi.org/10.1093/brain/69.4.251

Nagafuchi S, Yanagisawa H, Sato K. Dentatorubral and pallidoluysian atrophy expansion of the unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994; 6: 14-18. DOI: https://doi.org/10.1038/ng0194-14

Masters CL, Gaujdusek DC, Gibbs CJ. Creutzfeldt-Jakob disease virus isolations from the Gerstmann-Straussler syndrome. Brain 1981; 104: 509. DOI: https://doi.org/10.1093/brain/104.3.559

Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001; 57: 127-130. DOI: https://doi.org/10.1212/WNL.57.1.127

Baba Y, Uitti RJ. Fragile X-associated tremor/ataxia syndrome and movement disorders. Curr Opin Neurol 2005; 18: 393-398. DOI: https://doi.org/10.1097/01.wco.0000168332.99305.50

Tan EK, Zhao Y, Puong KY, Law HY, Chan LL, Yew K, et al. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian Cohort. Neurology 2004; 63:362-363. DOI: https://doi.org/10.1212/01.WNL.0000130199.57181.7B

Finsterer J. Mitochondriopathies. Eur J Neurol 2004; 11: 163-186 DOI: https://doi.org/10.1046/j.1351-5101.2003.00728.x

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Publicado

2007-03-31

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Como Citar

1.
Godeiro Jr C de O, Felício AC, Silva SMA, Borges V, Ferraz HB. Abordagem clínica de pacientes com ataxia. Rev Neurocienc [Internet]. 31º de março de 2007 [citado 5º de outubro de 2026];15(1):71-6. Disponível em: https://periodicos.unifesp.br/neurociencias/article/view/8726