Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich

Tilbery, Charles Peter; Altimari, Décio Cassiani; Gagliardi-Ferreira, Luiz G.; Alonso Nieto, José L.

doi:10.1590/S0004-282X1972000200009

Resumos

Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída particular ênfase às formas entre a moléstia de Charcot-Marie-Tooth e a de Friedreich. Nos casos apresentados havia sinais clínicos da amiotrofia de Charcot-Marie-Tooth e da degeneração espinocerebelar de Friedreich. No estudo genético foram observadas aberrações cromossômicas, fenômeno inédito na moléstia de Charcot-Marie-Tooth.

Four brothers with Charcot-Marie-Tooth disease are studied clinically and genetically. By comparing the symptomatology, the mixed clinical forms within the great group of heredodegenerative diseases are enfazised, with special attention to the intermediate forms between Charcot-MarieTooth and Friedreich diseases. In the present cases there were signs of Charcot-Marie-Tooth's peroneal muscular atrophy and Friedreich's spinocerebelar degeneration. By the genetic study a cromosomal breakage, an unusual phenomenon in Charcot-Marie-Tooth disease, was observed.

Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich

Association of Charcot-Marie-Tooth and Friedreich diseases in a family

Charles Peter Tilbery^I; Décio Cassiani Altimari^II; Luiz G. Gagliardi-Ferreira^III; José L. Alonso Nieto^IV

^IDisciplinas de Neurologia e de Genética Médica da Faculdade de Ciências Médicas da Santa Casa de São Paulo: Médico residente de Neurologia

^IIDisciplinas de Neurologia e de Genética Médica da Faculdade de Ciências Médicas da Santa Casa de São Paulo: Professor-Assistente na Disciplina de Genética Médica

^IIIDisciplinas de Neurologia e de Genética Médica da Faculdade de Ciências Médicas da Santa Casa de São Paulo: Neurologista

^IVResponsável pelo Setor de Eletromiografia do Hospital do Servidor Público do Estado de São Paulo

RESUMO

Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída particular ênfase às formas entre a moléstia de Charcot-Marie-Tooth e a de Friedreich. Nos casos apresentados havia sinais clínicos da amiotrofia de Charcot-Marie-Tooth e da degeneração espinocerebelar de Friedreich. No estudo genético foram observadas aberrações cromossômicas, fenômeno inédito na moléstia de Charcot-Marie-Tooth.

SUMMARY

Four brothers with Charcot-Marie-Tooth disease are studied clinically and genetically. By comparing the symptomatology, the mixed clinical forms within the great group of heredodegenerative diseases are enfazised, with special attention to the intermediate forms between Charcot-MarieTooth and Friedreich diseases. In the present cases there were signs of Charcot-Marie-Tooth's peroneal muscular atrophy and Friedreich's spinocerebelar degeneration. By the genetic study a cromosomal breakage, an unusual phenomenon in Charcot-Marie-Tooth disease, was observed.

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Departamento de Medicina Disciplina de Neurologia Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo Rua Cesário Motta Júnior 112 01221 São Paulo SP Brasil.

1. ADAMS, R.; DENNY-BROWN, D. & PEARSON, C. Enfermedades del Músculo. Versăo castelhana. Ed. La Fragua, Buenos Aires, 1957.
2. ALLEN, W. Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch. inter. Med. (Chicago) 63:1123, 1939.
3. ASANO, N.; KIZU, M.; YAMADA, T. & KIJIMA, C. A peculiar type of progressive muscular atrophy. Jap. J. hum. Genet. 5:139, 1960.
4. BEÇAK, W. Human chromosomes in short-term cultures from peripheric blood leucocytes. Rev. Bras. Biol. 21:281, 1961.
5. BERNARD, R.; GROSSIORD, A.; GRUNER, J. & HOPPELER, A. Sur une forme particuličre de maladie familiale du systčme nerveux, apparentée aux maladies de Friedreich et de Charcot-Marie. Deux observations anatomo-cliniques. Rev. neurol. (Paris) 86:800, 1952.
6. DAWSON, C. W. Charcot-Marie-Tooth disease. J.A.M.A. 188:659, 1964.
7. DOBIN, N. B.; AREFF, A. J. & TIGAY, E. L. Eletrodiagnosis and electromyography in study of progressive muscular atrophy. Arch. Phys. Med. 43:278, 1952.
8. DYCK, P. J.; LAMBERT, E. H. & MULDER, D. H. Conduction velocity of nerves in families with Charcot-Marie-Tooth disease: detection of latent involvement. Trans. Amer. neurol. Ass. 86:207, 1961.
9. FONTAN, M.; WARDOT, D. & MARTEZ, D. Maladie de Charcot-Marie ayant commencé sous l'aspect d'une maladie de Friedreich. Lille Méd. 4:722, 1959.
10. HAASE, G. & SLY, M. Pathological changes in muscle biopsies from patients with peroneal muscular atrophy. Brain 83:631, 1950.
11. HEALY, J. H. & SULLIVAN, J. F. Charcot-Marie-Tooth disease. Dis. Nerv. Syst. 29:111, 1968.
12. KISSEL, P. & BASSOT, J. Forme amyotrophique de la maladie de Friedreich. Existe-t-il des formes intermédiares entre la maladie de Friedreich et la maladie de Charcot-Marie? Rčv. Méd. (Nancy) 75:255, 1950.
13. LEPRESLE, J. Ce qu'on peut attendre d'une biopsie musculaire. Sem. Hôp. Paris 33:3402, 1957.
14. LEVY, J. A. Moléstia de Charcot-Marie-Tooth: conceito clínico-patológico atual. Arq. Neuro-Psiquiat. (Săo Paulo) 20:131, 1962.
15. MAHOUDEAU, D.; DAUM, S. & LEMPERIČRE, J. Une cas de maladie de Friedreich avec amiotrophie du type Charcot-Marie. Étude clinique. Rev. neurol. (Paris) 83:281, 1950.
16. MYRIANTHOPOULOS, N.; LANE, H.; SILBERBERG, D. H. & VINCENT, B. L. Nerve conduction and other studies in families with Charcot-Marie-Tooth disease. Brain 87:589, 1964.
17. SCHITT, J.; BARRUCAND, D.; FLOQUET, J. & DUC, M. Réflexions a propos de deux frčres présentant ŕ la fois la sintomatologie d'une maladie de Friedreich et celle d'une amyotrophie de Charcot-Marie. Rev. Oto-Neuro-Opht. 39:155, 1967.
18. WOHLFART, G. Muscular atrophy in diseases of lower motor neuron. Arch. Neurol. Psychiat. (Chicago) 61:599, 1949.

Datas de Publicação

Publicação nesta coleção
17 Abr 2013
Data do Fascículo
Jun 1972

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. ADAMS, R.; DENNY-BROWN, D. & PEARSON, C. Enfermedades del Músculo. Versăo castelhana. Ed. La Fragua, Buenos Aires, 1957.

[2] 2. ALLEN, W. Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch. inter. Med. (Chicago) 63:1123, 1939.

[3] 3. ASANO, N.; KIZU, M.; YAMADA, T. & KIJIMA, C. A peculiar type of progressive muscular atrophy. Jap. J. hum. Genet. 5:139, 1960.

[4] 4. BEÇAK, W. Human chromosomes in short-term cultures from peripheric blood leucocytes. Rev. Bras. Biol. 21:281, 1961.

[5] 5. BERNARD, R.; GROSSIORD, A.; GRUNER, J. & HOPPELER, A. Sur une forme particuličre de maladie familiale du systčme nerveux, apparentée aux maladies de Friedreich et de Charcot-Marie. Deux observations anatomo-cliniques. Rev. neurol. (Paris) 86:800, 1952.

[6] 6. DAWSON, C. W. Charcot-Marie-Tooth disease. J.A.M.A. 188:659, 1964.

[7] 7. DOBIN, N. B.; AREFF, A. J. & TIGAY, E. L. Eletrodiagnosis and electromyography in study of progressive muscular atrophy. Arch. Phys. Med. 43:278, 1952.

[8] 8. DYCK, P. J.; LAMBERT, E. H. & MULDER, D. H. Conduction velocity of nerves in families with Charcot-Marie-Tooth disease: detection of latent involvement. Trans. Amer. neurol. Ass. 86:207, 1961.

[9] 9. FONTAN, M.; WARDOT, D. & MARTEZ, D. Maladie de Charcot-Marie ayant commencé sous l'aspect d'une maladie de Friedreich. Lille Méd. 4:722, 1959.

[10] 10. HAASE, G. & SLY, M. Pathological changes in muscle biopsies from patients with peroneal muscular atrophy. Brain 83:631, 1950.

[11] 11. HEALY, J. H. & SULLIVAN, J. F. Charcot-Marie-Tooth disease. Dis. Nerv. Syst. 29:111, 1968.

[12] 12. KISSEL, P. & BASSOT, J. Forme amyotrophique de la maladie de Friedreich. Existe-t-il des formes intermédiares entre la maladie de Friedreich et la maladie de Charcot-Marie? Rčv. Méd. (Nancy) 75:255, 1950.

[13] 13. LEPRESLE, J. Ce qu'on peut attendre d'une biopsie musculaire. Sem. Hôp. Paris 33:3402, 1957.

[14] 14. LEVY, J. A. Moléstia de Charcot-Marie-Tooth: conceito clínico-patológico atual. Arq. Neuro-Psiquiat. (Săo Paulo) 20:131, 1962.

[15] 15. MAHOUDEAU, D.; DAUM, S. & LEMPERIČRE, J. Une cas de maladie de Friedreich avec amiotrophie du type Charcot-Marie. Étude clinique. Rev. neurol. (Paris) 83:281, 1950.

[16] 16. MYRIANTHOPOULOS, N.; LANE, H.; SILBERBERG, D. H. & VINCENT, B. L. Nerve conduction and other studies in families with Charcot-Marie-Tooth disease. Brain 87:589, 1964.

[17] 17. SCHITT, J.; BARRUCAND, D.; FLOQUET, J. & DUC, M. Réflexions a propos de deux frčres présentant ŕ la fois la sintomatologie d'une maladie de Friedreich et celle d'une amyotrophie de Charcot-Marie. Rev. Oto-Neuro-Opht. 39:155, 1967.

[18] 18. WOHLFART, G. Muscular atrophy in diseases of lower motor neuron. Arch. Neurol. Psychiat. (Chicago) 61:599, 1949.