Paraplegia espastica familiar com amiotrofia: estudo clinico, eletromiografico, histoquimico e microdissecção

Werneck, Lineu Cesar; Sanches, Maria Cristina Arrua

doi:10.1590/S0004-282X1979000200004

Resumos

Relato de quatro casos de paraplegia, espástica familiar com amiotrofia, em irmãos provenientes de um matrimônio consanguíneo. A investigação laboratorial rotineira estava normal. A eletromiografia e biópsia muscular com histoquímica demonstraram denervação com reinervação. As conduções nervosas motoras estavam diminuídas em três casos no nervo peroneiro. A análise por microdissecção do nervo sural foi anormal nos quatro casos, revelando desmielinização e remielinização. Após revisão da literatura, os autores acreditam que as alterações encontradas são decorrentes de degeneração axonal distai, com regeneração secundária e levantam a hipótese de defeito no fluxo axoplásmico do sistema nervoso central e periférico.

Four cases of familial spastic paraplegia with amyotrophy in siblings from a consanguineous married are reported. The routine laboratory examination were normal. The electromiography and muscle biopsy processed by histochemistry showed signs of denervation with reinervation. The motor nerve conduction velocity was decreased in the peroneal nerve in 3 cases. The teased fiber preparation of sural nerves was abnormal in four cases. It was found increased of C, D and G fibers suggesting demyelination with secondary remyelination. The authors believe the abnormalities found could be due the distal axonal degeneration, with secondary regeneration and suggest the hypothesis that the fact is an axoplasmic flow defect in the central and peripheral nervous system.

Paraplegia espastica familiar com amiotrofia: estudo clinico, eletromiografico, histoquimico e microdissecção

Familial spastic paraplegia with amyotrophy: a study of 4 cases with electromyography, muscle histochemistry and teased fiber preparation of sural nerves

Lineu Cesar Werneck^I; Maria Cristina Arrua Sanches^II

^IProfessor Assistente de Neurologia. Disciplina de Neurologia do Departamento de Clínica Médica, Universidade Federal do Paraná (Curitiba)

^IIResidente de Neurologia. Disciplina de Neurologia do Departamento de Clínica Médica, Universidade Federal do Paraná (Curitiba)

RESUMO

Relato de quatro casos de paraplegia, espástica familiar com amiotrofia, em irmãos provenientes de um matrimônio consanguíneo. A investigação laboratorial rotineira estava normal. A eletromiografia e biópsia muscular com histoquímica demonstraram denervação com reinervação. As conduções nervosas motoras estavam diminuídas em três casos no nervo peroneiro. A análise por microdissecção do nervo sural foi anormal nos quatro casos, revelando desmielinização e remielinização.

Após revisão da literatura, os autores acreditam que as alterações encontradas são decorrentes de degeneração axonal distai, com regeneração secundária e levantam a hipótese de defeito no fluxo axoplásmico do sistema nervoso central e periférico.

SUMMARY

Four cases of familial spastic paraplegia with amyotrophy in siblings from a consanguineous married are reported. The routine laboratory examination were normal. The electromiography and muscle biopsy processed by histochemistry showed signs of denervation with reinervation. The motor nerve conduction velocity was decreased in the peroneal nerve in 3 cases. The teased fiber preparation of sural nerves was abnormal in four cases. It was found increased of C, D and G fibers suggesting demyelination with secondary remyelination.

The authors believe the abnormalities found could be due the distal axonal degeneration, with secondary regeneration and suggest the hypothesis that the fact is an axoplasmic flow defect in the central and peripheral nervous system.

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Trabalho realizado na Disciplina de Neurologia do Departamento de Clínica Médica, Universidade Federal do Parang (Curitiba).

Disciplina de Neurologia - Hospital de Clinicas da Universidade Federal do Paraná - Rua General Carneiro 180 - 80000 Curitiba - PR. - Brasil.

1. AAGENES, O. - Hereditary spastic paraplegia. Acta Psychiat. Neurol. Scand. 34:489, 1959.
2. APPEL, L. & BOGAERT, L. - Etudes sur la paraplegie spasmodique familiale. Acta Neurol. Psychiat. Belgica. 52:129, 1952.
3. BEHAN, W. M. H. & MAIA, M. - Strümpell familial spastic paraplegia: genetics and neuropathology. J. Neurol. Neurosurg. Psychiat. 37:8, 1974.
4. BELL, J. - On Hereditary Ataxic and Spastic Paraplegia. Treasury of Human Inheritance. Vol. 4, pg. 141-195 Cambridge Univ. Press, London, 1939.
5. BICKERSTAFF, E. R. - Hereditary spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 13:134, 1950.
6. GROSS, H. E. & McKUSICK, V. A. - The Troyer syndrome: a recessive form os spastic paraplegia with distal muscle wasting. Arch. Neurol. (Chicago) 16:473, 1967.
7. DUBOWITZ, V. & BROOKE, M. H. - Muscle Biopsy: A Modern Approach. V. B. Saunders Co. Ltd., London, 1978.
8. DYCK, P. J. - Pathologic alteration of the peripheral nervous system of man. In Dyck, P. J.; Thomas, P. K. & Lambert. E. H. - Peripheral Neuropathy, W. B. Saunders Philadelphia, 1975.
9. DYCK, P. J. - Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In Dyck, P. J. Thomas, P. K. & Lambert, E. H. - Peripheral Neuropathy, W. B. Saunders Co., Philadelphia, 1975.
10. DYCK, P. J. & LAMBERT, E. H. - Lower motor and primary sensory neuron disease with peroneal muscular atrophy. Arch. Neurol. (Chicago) 18:619, 1968.
11. DYCK, P. J. & LOFGREN, E. P. - Nerve biopsy: choice of nerve, method, symptoms and usefulness. Med. Clin. North Am. 52:885, 1968.
12. GARLAND, H. G. & ASTLEY, C. E. - Hereditary spastic paraplegia with amyotrophy and pes cavus. J. Neurol. Neurosurg. Psychiat. 13:130, 1950.
13. GOODGOLD, J. & EBERSTEIN, A. - Electrodianosis of Neuromuscular Diseases. Willians & Wilkins Co., Baltimore, 1972.
14. GREENFIELD, J. G. - The Spinal Cerebellar Degenerations. Blackwell Edt., Oxford, 1954.
15. JACKSON, J. A. H. - Familial spastic paralysia. Arch. Neurol. & Psychiat. (Chicago) 31:1266, 1934.
16. KAHLSTORF, A. - Klinischer und histopathologischer Beitrag zur hereditaren spastischen Spinalparalyse. Zeitschrif gesamt Neurol. Psychiat. 159, 774, 1937.
17. LANDAU, W. & GITT, J. - Hereditary spastic paraplegia and hereditary ataxia. Arch. Neurol. & Psychiat. (Chicago) 66:346, 1951.
18. PASKIND, H. E. & STONE, T. T. - Familial spastic paralysis: report ot 3 cases in one family and observation at necropsy. Arch. Neurol. & Psychiat. (Chicago) 30:481, 1933.
19. RAYMOND, F. - The relationship of the so called family diseases to a premature physiological senescence localized to certain organic systems. Lancet 1:1959, 1908.
20. RHEIN, J. H. W. - Family spastic paralysis. J. Nerv. & Ment. Dis. 44:115, 1916.
21. RHEIN, J. H. W. - Family spastic paralysis. J. Nerv. & Ment. Dis. 44:224, 1916.
22. ROE, P. - Hereditary spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 26:516, 1963.
23. SCHUTT, J. "W. - Hereditary ataxia: clinical study through 6 generations. Arch. Neurol. & Psychiat. (Chicago) 63:535, 1950.
24. SCHWARTZ, G. A. & LIU, C. N. - Hereditary (familial) spastic paraplegia: further clinical and pathological observations. Arch. Neuro. & Psychiat. (Chicago) 75:144, 1956.
25. SILVER, J. R. - Familial spastic paraplegia with amyotrophy of the hands. J. Neurol. Neurosurg. Psychiat. 29:135, 1966.
26. SKRE, H. - Hereditary spastic paraplegia in Western Norway. Clin. Genet. 6:165, 1974.
27. SMORTO, M. P. & BASMAJIAN, J. V. - Clinicai Eletroneurography. Williams & Wilkins Co., Baltimore, 1972.
28. STRÜMPELL, A. - Beitrage sur pathologie des Rückenmarks, Archiv. Psychiat. Nervenkrakh. 10:676, 1880.
29. STRÜMPELL, A. - Ueber eine bestimmte Form der primâren combinierten Systemerkrankung des Rückenmarks. Archiv. Psychiat. Nervenkrankh. 17:217, 1886.
30. STRÜMPELL, A. - Die primare Seitenstrangsklerose (spastische Spinalparalyse). Deutsch Zeitsch. für Nervenheilkunde 27:292, 1904.
31. WERNECK, L. C. & NOVAK, E. M. - Intoxicações por inseticidaes: micro-dissecçâo de nervos e histoquímica de músculo em 10 casos. Arq. Neuro-Psiquiat. (São Paulo) 37:15, 1979.

Datas de Publicação

Publicação nesta coleção
24 Ago 2012
Data do Fascículo
Jun 1979

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

[1] 1. AAGENES, O. - Hereditary spastic paraplegia. Acta Psychiat. Neurol. Scand. 34:489, 1959.

[2] 2. APPEL, L. & BOGAERT, L. - Etudes sur la paraplegie spasmodique familiale. Acta Neurol. Psychiat. Belgica. 52:129, 1952.

[3] 3. BEHAN, W. M. H. & MAIA, M. - Strümpell familial spastic paraplegia: genetics and neuropathology. J. Neurol. Neurosurg. Psychiat. 37:8, 1974.

[4] 4. BELL, J. - On Hereditary Ataxic and Spastic Paraplegia. Treasury of Human Inheritance. Vol. 4, pg. 141-195 Cambridge Univ. Press, London, 1939.

[5] 5. BICKERSTAFF, E. R. - Hereditary spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 13:134, 1950.

[6] 6. GROSS, H. E. & McKUSICK, V. A. - The Troyer syndrome: a recessive form os spastic paraplegia with distal muscle wasting. Arch. Neurol. (Chicago) 16:473, 1967.

[7] 7. DUBOWITZ, V. & BROOKE, M. H. - Muscle Biopsy: A Modern Approach. V. B. Saunders Co. Ltd., London, 1978.

[8] 8. DYCK, P. J. - Pathologic alteration of the peripheral nervous system of man. In Dyck, P. J.; Thomas, P. K. & Lambert. E. H. - Peripheral Neuropathy, W. B. Saunders Philadelphia, 1975.

[9] 9. DYCK, P. J. - Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In Dyck, P. J. Thomas, P. K. & Lambert, E. H. - Peripheral Neuropathy, W. B. Saunders Co., Philadelphia, 1975.

[10] 10. DYCK, P. J. & LAMBERT, E. H. - Lower motor and primary sensory neuron disease with peroneal muscular atrophy. Arch. Neurol. (Chicago) 18:619, 1968.

[11] 11. DYCK, P. J. & LOFGREN, E. P. - Nerve biopsy: choice of nerve, method, symptoms and usefulness. Med. Clin. North Am. 52:885, 1968.

[12] 12. GARLAND, H. G. & ASTLEY, C. E. - Hereditary spastic paraplegia with amyotrophy and pes cavus. J. Neurol. Neurosurg. Psychiat. 13:130, 1950.

[13] 13. GOODGOLD, J. & EBERSTEIN, A. - Electrodianosis of Neuromuscular Diseases. Willians & Wilkins Co., Baltimore, 1972.

[14] 14. GREENFIELD, J. G. - The Spinal Cerebellar Degenerations. Blackwell Edt., Oxford, 1954.

[15] 15. JACKSON, J. A. H. - Familial spastic paralysia. Arch. Neurol. & Psychiat. (Chicago) 31:1266, 1934.

[16] 16. KAHLSTORF, A. - Klinischer und histopathologischer Beitrag zur hereditaren spastischen Spinalparalyse. Zeitschrif gesamt Neurol. Psychiat. 159, 774, 1937.

[17] 17. LANDAU, W. & GITT, J. - Hereditary spastic paraplegia and hereditary ataxia. Arch. Neurol. & Psychiat. (Chicago) 66:346, 1951.

[18] 18. PASKIND, H. E. & STONE, T. T. - Familial spastic paralysis: report ot 3 cases in one family and observation at necropsy. Arch. Neurol. & Psychiat. (Chicago) 30:481, 1933.

[19] 19. RAYMOND, F. - The relationship of the so called family diseases to a premature physiological senescence localized to certain organic systems. Lancet 1:1959, 1908.

[20] 20. RHEIN, J. H. W. - Family spastic paralysis. J. Nerv. & Ment. Dis. 44:115, 1916.

[21] 21. RHEIN, J. H. W. - Family spastic paralysis. J. Nerv. & Ment. Dis. 44:224, 1916.

[22] 22. ROE, P. - Hereditary spastic paraplegia. J. Neurol. Neurosurg. Psychiat. 26:516, 1963.

[23] 23. SCHUTT, J. "W. - Hereditary ataxia: clinical study through 6 generations. Arch. Neurol. & Psychiat. (Chicago) 63:535, 1950.

[24] 24. SCHWARTZ, G. A. & LIU, C. N. - Hereditary (familial) spastic paraplegia: further clinical and pathological observations. Arch. Neuro. & Psychiat. (Chicago) 75:144, 1956.

[25] 25. SILVER, J. R. - Familial spastic paraplegia with amyotrophy of the hands. J. Neurol. Neurosurg. Psychiat. 29:135, 1966.

[26] 26. SKRE, H. - Hereditary spastic paraplegia in Western Norway. Clin. Genet. 6:165, 1974.

[27] 27. SMORTO, M. P. & BASMAJIAN, J. V. - Clinicai Eletroneurography. Williams & Wilkins Co., Baltimore, 1972.

[28] 28. STRÜMPELL, A. - Beitrage sur pathologie des Rückenmarks, Archiv. Psychiat. Nervenkrakh. 10:676, 1880.

[29] 29. STRÜMPELL, A. - Ueber eine bestimmte Form der primâren combinierten Systemerkrankung des Rückenmarks. Archiv. Psychiat. Nervenkrankh. 17:217, 1886.

[30] 30. STRÜMPELL, A. - Die primare Seitenstrangsklerose (spastische Spinalparalyse). Deutsch Zeitsch. für Nervenheilkunde 27:292, 1904.

[31] 31. WERNECK, L. C. & NOVAK, E. M. - Intoxicações por inseticidaes: micro-dissecçâo de nervos e histoquímica de músculo em 10 casos. Arq. Neuro-Psiquiat. (São Paulo) 37:15, 1979.