Hostname: page-component-78c5997874-94fs2 Total loading time: 0 Render date: 2024-11-20T02:27:53.420Z Has data issue: false hasContentIssue false
  • English
  • Français

Nuclear Inclusions in Oculopharyngeal Muscular Dystrophy in Quebec

Published online by Cambridge University Press:  18 September 2015

Jean-Pierre Bouchard ,
François Gagné ,
Fernando M. S. Tomé  and
Denis Brunet
Jean-Pierre Bouchard*
Affiliation:
De l'Hôpital de l'Enfant-Jésus, Université Laval, Québec
François Gagné
Affiliation:
De l'Hôpital de l'Enfant-Jésus, Université Laval, Québec
Fernando M. S. Tomé
Affiliation:
INSERM, Unité 153, Paris
Denis Brunet
Affiliation:
De l'Hôpital de l'Enfant-Jésus, Université Laval, Québec
*
Département des Sciences Neurologiques, Hôpital de l'Enfant-Jésus, 1401 18è rue, Québec, P.Q., Canada G1J 1Z4
Rights & Permissions [Opens in a new window]

Abstract:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Seven French-Canadian cases of clearcut oculopharyngeal muscular dystrophy (OPMD) had their muscle studied for the presence of intranuclear inclusions, and they were all positive. Inclusions of both “mature” and “immature” types were seen in our material. The presence of such intranuclear structures should be added to the criteria of the clinical picture and the family history for diagnosis of a case and inclusion of a family in further genetic studies. Reverse genetic studies of large families and biochemical studies of these intranuclear structures may help to understand the pathogenesis of this common disease in Quebec.

Résumé:

RÉSUMÉ:

Nous avons étudié sept cas canadiens-français de dystrophie oculopharyngée classique et nous avons retrouvé dans chaque cas des inclusions intranucléaires dans les muscles striés. Ces inclusions étaient le plus souvent de forme typique, mais nous avons parfois noté dans les mêmes muscles des inclusions de forme “immature”. Il nous paraît maintenant nécessaire d'ajouter la présence de ces structures intranucléaires aux critères habituels du tableau clinique et de l'histoire familiale pour confirmer le diagnostic d'un cas isolé ou l'inclusion d'une famille dans une étude génétique. Les études de génétique inverse sur de grandes familles affectées et l'analyse biochimique de ces inclusions intranucléaires devrait nous aider à mieux comprendre la pathogénèse de cette maladie fréquente au Québec.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 16 , Issue 4 , November 1989 , pp. 446 - 450
Copyright
Copyright © Canadian Neurological Sciences Federation 1989

References

REFERENCES

1. Taylor, EW. Progressive vagus-glossopharyngeal paralysis with ptosis: a contribution to the group of family diseases. J Nerv Ment Dis 1915; 42: 129–139.Google Scholar
2. Victor, M, Hayes, R, Adams, RD. Oculopharyngeal muscular dystrophy; familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med 1962; 267: 1267–1272.Google Scholar
3. Amyot, R. Ptosis héréditaire familial et tardif des paupières supérieures. Un Méd Can 1948; 77: 1288–1294.Google Scholar
4. Saucier, J. The clinical significance of ptosis with special reference to ptosis of late onset. J Nerv Ment Dis 1954; 119: 148–158.Google Scholar
5. Myrianthopoulos, NC, Brown, IA. A genetic study of progressive spinal muscular atrophy. Amer J Hum Genet 1954; 6: 387–411.Google Scholar
6. Hayes, R, London, W, Seidman, J, Embree, L. Oculopharyngeal muscular dystrophy. New Engl J Med 1963; 268: 163.Google Scholar
7. Peterman, AF, Lillington, GA, Jampis, RW. Progressive muscular dystrophy with ptosis and dysphagia. Arch Neurol 1964; 10: 38–41.Google Scholar
8. Bray, GM, Kaarsoo, M, Ross, RT. Ocular myopathy with dysphagia. Neurology 1965; 15: 678.Google Scholar
9. Barbeau, A. Ocular myopathy in French Canada (abstract). Proceedings du 8ième Congrès international de Neurologie, Vienne, 1965, tome II: 257–259.Google Scholar
10. Barbeau, A. The Syndrome of Hereditary Late Onset Ptosis and Dysphagia in French Canada. In: Kuhn, Erich, ed. Symposion über progressive Muskeldystrophie, Springer-Verlag 1966; 102–109.Google Scholar
11. Letendre, J, Tétreault, C, Barbeau, A. Dystrophic musculaire oculopharyngienne. Montréal Médical, janvier 1966: 11–13.Google Scholar
12. Russe, H, Busey, H, Barbeau, A. Immunoglobulin changes in oculopharyngeal dystrophy. Proceedings of the Second International Congress of Neuro-Genetics and Neurophthalmology. Progress in Neuro-Genetics. Montréal 1967; Volume 1: 62–65.Google Scholar
13. Tomé, FMS, Fardeau, M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 1980; 49: 85–87.Google Scholar
14. Tomé, FMS, Fardeau, M. Ocular myopathies. Path Res Pract 1985; 180: 19–27.Google Scholar
15. Tomé, FMS, Fardeau, M. Ocular Myopathies. In: Myology, Engel, AG and Banker, BQ (editors). McGraw Hill, 1986; 1327–1345.Google Scholar
16. Tomé, FMS, Fardeau, M. Nuclear changes in muscle disorders. Meth Achiev Exp Pathol 1986; 12: 261–296.Google Scholar
17. Tomé, FMS, Leroy, JP, Neville, H et al. Intranuclear tubulo-filamentous inclusions as morphological marker of oculopharyngeal muscular dystrophy. Muscle Nerve (Suppl) 1986; 9: 212 (Abstract).Google Scholar
18a. Tomé, FMS, Askanas, V, Engel, WK, et al. Unusual nuclear inclusion in innervated culture muscle fibers of OPMD. Neurology (Suppl 1) 1988; 38: 340 (Abstract).Google Scholar
18b. Tomé, FMS, Askanas, V, Engel, WK, Alverez, MS, Lee, C-S. Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. Neurology 1989; 39: 926–932.Google Scholar
19. Tomé, FMS, Gounon, P, Collin, H, Ploton, D, Shelanski, ML, Fardeau, M. Intranuclear inclusions in Oculopharyngeal muscular dystrophy: Further studies. Neurology (Suppl 1) 1989; 39: 335 (Abstract).Google Scholar
20. Dubowitz, V, Brooke, MH. Muscle biopsy: A modern approach WB Saunders Co London 1973; 231–241.Google Scholar
21. Jasmin, G. (Personal communication to FMST).Google Scholar
22. Bouchard, J-P, Brunet, D, Gagn#x00E9;, F, Puymirat, J. La dystrophie oculopharyng#x00E9;e au Qu#x00E9;bec: Nouvel int#x00E9;rêt clinique, g#x00E9;n#x00E9;alogique et morphologique. Can J Neurol Sci 1988; 15: 244 (Abstract).Google Scholar
23. Smith, TW, Chad, D. Intranuclear inclusions in oculopharyngeal dystrophy. Muscle Nerv 1984; 7: 339–340.Google Scholar
24. Coquet, M, Vital, C, Stoll, D, Dominguez, M, Julien, J. Etude comparative des biopsies musculaires squelettiques et pharyngées de 3 cas d#x2019;atteinte oculopharynge#x00E9;. R#x00E9;sum#x00E9;s du 3#x00E9;me Colloque national sur les Maladies Neuromuscularies, Bordeaux-Lac, 1988; 96.Google Scholar
25. Schmitt, HP, Krause, KH. An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement. Muscle Nerve 1981; 4: 296–305.Google Scholar
26. Probst, A, Tackmann, W, Stoeckli, HR, Jerusalem, F, Ulrich, J. Evidence for a chronic axonal atrophy in oculopharyngeal “muscular dystrophy”. Acta Neuropathol 1982; 57: 209–216.Google Scholar
27. Julien, J, Vital, C, Vallat, JM, Vallat, M, LeBlanc, M. Oculopharyngeal muscular dystrophy. A case with abnormal mitochondria and “fingerprintȝ inclusions. J Neurol Sci 1974; 21: 165–169.Google Scholar
28. Pratt, MF, Meyers, PK Oculopharyngeal muscular dystrophy: recent ultrastructural evidence for mitochondrial abnormalities. Laryngoscope 1986; 96: 368–373.CrossRefGoogle ScholarPubMed
29. Dobrowski, JM, Zajtchuk, JT, Lapiana, FG, Hensley, SD. Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. Otolaryngol Head Neck Surg 1986; 95: 131–142.Google Scholar