Hostname: page-component-848d4c4894-pftt2 Total loading time: 0 Render date: 2024-05-09T12:09:55.989Z Has data issue: false hasContentIssue false
  • English
  • Français

Familial Progressive Myoclonic Epilepsy (Unverricht-Lundborg syndrome in five families from the Valais canton)1,2

Published online by Cambridge University Press:  01 August 2014

Eduardo Rallo
Eduardo Rallo*
Affiliation:
Institut de Génétique Medicale de l'Université de Genève
*
Institut de Génétique Médicale de l'Université, Chemin Thury 8, 2106 Genève (Suisse)

Summary

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.

After a historical review of the problem of progressive myoclonic epilepsy, the author makes a detailed clinical and genetic description of 5 families from the Valais canton, affected with the disease. The metabolic disturbances observed in these cases (urinary elimination of mucopolysaccharides) are given particular attention. The author further discusses the various classifications of myoclonic epilepsy which were established on the basis of clinical symptomatology, electroencephalographic tracings, pathological anatomy and biochemical findings.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 18 , Issue 3 , July 1969 , pp. 231 - 270
Copyright
Copyright © The International Society for Twin Studies 1969

Footnotes

1

Travail subventionné par le Fonds National Suisse de la Recherche Scientifique (Crédit No. 4408) et par le Public Health Service, Bethesda, Md., USA (NB 04590-05).

2

Ce travail est dédié en hommage sincère au Prof. D. Klein pour son soixantième anniversaire.

References

Bibliografia

Ajuriaguerra, J. de Sigwald, J., Piot, Cl. (1954). Myoclonie-épilepsie familiale de type Unverricht-Lundborg. Presse Med., 62: 1813–1816.Google Scholar
Alabastro, A. (1947). Contributo allo studio della trasmissione ereditaria della retinite pigmentosa con mioclono-epilessia. Riv. Otoneurooftal., 22: 389–396.Google Scholar
Bagghi, B. K. (1956). Variable relationships and latencies in cerebral and electromyographic discharges in Myoclonic epilepsy. Electroenceph. Clin. Neurophysiol., 8: 344.Google Scholar
Bergouignan, M., Arné, L., Loiseau, P. (1958). Sur la dyssynergie cérébelleuse myoclonique. Rev. Neurol. (Paris)., 98: 695–699.Google Scholar
Bitter, T., Muir, H. M. (1962). A modified uronic acid carbazole reaction. Lab. Pract., 4: 330.Google ScholarPubMed
Bogaert, L. Van (1929). Sur une variété non décrite d'affection familiale. L'épilepsie myoclonique avec choréoathétose. Rev. Neurol. (Paris), 2: 385–414.Google Scholar
Bogaert, L. Van (1949). Sur l'épilepsie myoclonique progressive d'Unverricht-Lundborg. Mschr. Psychiat. Neurol., 118: 170–191.CrossRefGoogle Scholar
Bogaert, L. Van (1968). L'Epilepsie Myoclonique Progressive d'Unverricht-Lundborg. Masson et Cie, Paris.Google Scholar
Bogaert, L. Van Radermecker, J., Titeca, A. (1950). Les syndromes myocloniques. Folia Psychiat. Neerl., 43: 650–690.Google Scholar
Buduls, M., Vilde, J. (1938). Über einen zur Gruppe der Myoklonus-epilepsie gehörenden Erkrankungsfall. Z. Ges. Neurol. Psychiat., 163: 382–389.Google Scholar
Christophe, J., Rémond, A. (1951). Dyssynergia cerebellaris myoclonica de Ramsay-Hunt. Rev. Neurol (Paris), 84: 256–262.Google Scholar
Cordier, J., De Wulf, A., Louis-Bar, D., Radermecker, J., Segers, J., Segers, G. (1949). Etudes cliniques sur l'épilepsie myoclonique. Acta Neurol. Belg., 49: 233–282.Google Scholar
Dawson, G. D. (1947). Investigations on a patient subject to myoclonic seizures after sensory stimulation J. Neurol. Neurosurg. Psychiat., 10: 141–162.Google Scholar
Delaunois, B. (1956). Sur l'autonomie de la dyssynergie cérébelleuse myoclonique, à propos d'une observation familiale à hérédité dominante. J. Genet. Hum., 5: 106–119.Google Scholar
Delay, J., Fischgold, H., Pichot, P., Verdeaux, G. (1947). L'épilepsie myoclonique de type Unverricht. Etude génétique. Constatations E.E.G. Rev. Neurol. (Paris), 49: 430–433.Google Scholar
Dische, Z. (1947). A new specific colour reaction of hexuronic acid. J. Biol. Chem., 167: 189.CrossRefGoogle Scholar
Edgar, G. W. F. (1963). Progressive myoclonus epilepsy as an inborn error of metabolism comparable to storage disease. Epilepsia, 4: 120–137.Google Scholar
Emma, M., Bondavalli, G. (1943). La Sindrome Mioclonoepilettica. Libreria Editrice Universitaria, Milano.Google Scholar
Ferrante, N. di, Rich, C. (1956). The determination of acid aminopolysaccharide in urine. J. Lab. Clin. Med., 48: 491.Google Scholar
Force, L. (1955). Etude clinique de la dyssynergie cérébelleuse. Thèse de Bordeaux, N. 235.Google Scholar
Franceschetti, A., Klein, D. (1941). Über das Vorkommen von hereditärer juveniler Maculadegeneration bei 2 Geschwisterpaaren der Friedreich-Sippe «Glaser». Arch. Klaus Stift. Vererbungsforsch., 16: 469–493.Google Scholar
Franceschetti, A., Klein, D. (1947). Retinitis pigmentosa und Retinitis punctata albescens in 2 Verwandtengruppen der Friedreich-Sippe «Glaser». Arch. Klaus Stift. Vererbungsforsch., 22: 93–121.Google Scholar
Franceschetti, A., Klein, D. (1948). Les manifestations tapéto-rétiniennes et leur importance clinique et génétique dans les hérédoataxies. Rev. Otoneuroophtal., 20: 109–166.Google Scholar
Franceschetti, A., Klein, D. Forni, S., Babel, J. (1950). Clinical and social aspects of heredity in ophthalmology. XVI. Concilium Ophthalmologicum Britannia, 1950. Acta, 1: 157–285, Brit. Med. Ass., London.Google Scholar
Gastaut, H. (1968). Séméiologie Electro-clinique et Nosographie Analytique des Myoclonies. Masson et Cie, Paris.Google Scholar
Gastaut, H., Rémond, A. (1952). Etude électroencéphalographique des myoclonies. Rev. Neurol. (Paris), 86: 596–609.Google Scholar
Grinker, R. R., Serota, H., Stein, S. J. (1938). Myoclonic epilepsy. Arch. Neurol. Psychiat. (Chicago), 40: 968–980.Google Scholar
Haddenbrock, S. (1950). Zur Pathogenese systematischer Bahndegenerationen bei amaurotischer Idiotie und zur Frage der Beziehungen dieses Leidens zur Myoklonusepilepsie. Arch. Psychiat. Nervenkr., 185: 129–164.CrossRefGoogle Scholar
Halliday, A. M. (1967). The clinical incidence of myoclonus. In: Modern Trends in Neurology. Butterworths, London.Google Scholar
Harenko, A., Toivakka, E. I. (1961). Myoclonus epilepsy (Unverricht-Lundborg) in Finland. Acta Neurol. Scand., 37: 282–296.Google Scholar
Harriman, D. G. F., Millar, J. H. D., Stevenson, A. C. (1955). Progressive familial myoclonic epilepsy in three families; its clinical features and pathological basis. Brain, 78: 325–349.CrossRefGoogle ScholarPubMed
Hartung, E. (1920). Zwei Fälle von Paramyoclonus multiplex mit Epilepsie. Z. Ges. Neurol. Psychiat., 56: 150–153.Google Scholar
Infante, F. (1961). The chemical composition of seromucoids in normal and diseases states. Proc. IVth Internat. Congr. Clin. Chem. E. S. Livingstone, Edimbourg.Google Scholar
Ioka-Okaba, . Cit. Murakami, 1957.Google Scholar
Janeway, R., Ravens, J. R., Pearce, L. A., Odor, D. L., Suzuki, K. (1967). Progressive myoclonus epilepsy with Lafora inclusion bodies; clinical, genetic, histopathologic and biochemical aspects. Part. I. Arch. Neurol. (Chicago), 16: 565–582.Google Scholar
Kehrer, . Cit. van Bogaert, 1929.Google Scholar
Klein, D., Francesghetti, A. (1964). Missbildungen und Krankheiten des Augen. In: Becker, P. E.: Humangenetik. Bd IV. G. Thieme, Stuttgart.Google Scholar
Klein, D., Mumenthaler, M., Kraus-Ruppert, R., Rallo, E. (1968). Une grande famille valaisanne atteinte d'épilepsie myoclonique progressive et de rétinite pigmentaire. Etude clinique, génétique et anatomo-pathologique. Humangenetik, 6: 237–252.Google Scholar
Krebs, E., Plantey, F. (1955). Etude anatomo-clinique d'un syndrome de clonies spontanées intentionnelles et oppositionnelles avec EEG répétés du type de l'épilepsie au début, et dans la suite évolutive d'une atrophie corticale tardive. Rev. Neurol. (Paris)., 93: 207–215.Google Scholar
Kugelberg, E., Widén, L. (1954). Epilepsia partialis continua. Electroenceph. Clin. Neurophysiol., 6: 503.Google Scholar
Lafora, G., Gluck, B. (1911). Beitrag zur Histopathologie der myoklonischen Epilepsie. Z. Ges. Neurol. Psychiat., 6: 1–14.CrossRefGoogle Scholar
Lecasble, R. (1953). Epilepsies Myocloniques. Etude E.E.G. Thèse, Paris, N. 461.Google Scholar
Leeuwen, A. M. Van, Laruelle, L., Lauwers, H., Massion-Verniory, L., Radermecker, J. (1950). Epilepsiemyoclonie familiale, sans démence, avec forme partielle (labioglosso-vélopalatine) et obésité du type glandulaire; étude clinique, électroencéphalographique et généalogique. Encéphale, 39: 449–471.Google Scholar
Lowenthal, A. (1965). Clinical biochemistry of epilepsy. Epilepsia (Amst.), 6: 198.Google Scholar
Lundborg, H. (1903). Die progressive Myoclonusepilepsie. Almquist and Wiksell, Uppsala.Google Scholar
Lundborg, H. (1912). Der Erbgang der progressiven Myoklonusepilepsie. Z. Ges. Neurol. Psychiat., 9: 353–358.Google Scholar
Lundborg, H. (1913). Medizinisch-biologische Familienforschung innerhalb eines 2232 köpfigen Bauerngeschlechtes in Schweden. Fischer, Jena.Google Scholar
Marchand, L. (1934). Les myoclonies épileptiques. Encéphale, 29: 217–246.Google Scholar
Marchand, L. (1935). Dégénérescence amyloïde de la cellule nerveuse; les corpuscules sphérulaires amyloïdes. Ann. Anat. Path. (Paris), 12: 1–12.Google Scholar
Maroteaux, P., Lamy, M. (1964). L'oligophrénie polydystrophique. Mucopolysaccharidose H-S. Presse Med., 50: 2991.Google Scholar
Martin, F., Baumann, J., Fallet, G. (1955). Two cases of family myoclonic epilepsy in a Swiss family. Schweiz. Arch. Neurol. Psychiat., 75: 374–377.Google Scholar
Medved, A., Peterson, W. L. Jr., Johnson, R. V. (1967). Cutaneous findings in Unverricht's syndrome. Arch. Derm. (Chicago), 95: 206–209.Google Scholar
Millar, J.H.D., Neill, D. W. (1959). Serum mucoproteins in progressive familial myoclonic epilepsy. Epilepsia (Amst.), 1: 115–116.Google Scholar
Murakami, U. (1957). Myoclonus epilepsy. In: Clinico-genetic study of hereditary disorders of the nervous system, especially on problems of phenogenesis. Folia Psychiat. Neurol. Jap., Suppl. 1, 27–28.Google Scholar
Novelletto, A. (1958). Problèmes actuels de la myoclonie-épilepsie progressive de Unverricht-Lundborg. Encéphale, 47: 223.Google Scholar
Odor, L., Janeway, R., Pearce, L. A., Ravens, J. R. (1967). Progressive myoclonus epilepsy with Lafora inclusion bodies. II. Studies of ultrastructure. Arch. Neurol. (Chicago), 16: 583–594.CrossRefGoogle ScholarPubMed
Pintus, G. (1937). Stato mentale e trasmissione ereditaria della mioclono-epilessia di Unverricht. Riv. Sper. Freniat., 61: 335–384.Google Scholar
Rallo, E., Henking, R. (1965). Expérimentation clinique et électroencéphalographique du diazepam intraveineux chez les malades épileptiques. Psychiat. Neurol. (Basel), 150: 214–229.Google Scholar
Rallo, E., Martin, F., Infante, F., Beaumanoir, A., Klein, D. (1968). Epilepsie myoclonique progressive maligne (Maladie de Lafora). Etude clinique et biochimique d'un cas. Acta Neurol. Belg., 68: 356–369.Google Scholar
Riehl, J. L., Lee, D. K., Andrews, J. M., Brown, W.J. (1967). Electrophysiological and neuropharmacological studies in a patient with Unverricht-Lafora's disease. Neurology (Minneap.), 17: 502–511.Google Scholar
Roger, J., Gastaut, H., Toga, M., Soulayrol, R., Regis, M., Loob, M., Tassinari, A., Dubois, D., Poinso, Y., Mesdjian, E. (1965). Epilepsie-myoclonie progressive avec corps de Lafora. Etude clinique polygraphique et anatomique d'un cas. Rev. Neurol. (Paris), 112: 50–61.Google Scholar
Roger, J., Gastaut, H., Boudouresques, J., Toga, M., Dubois, D., Lob, H. (1967). Epilepsie-myoclonie progressive avec corps de Lafora. Rev. Neurol. (Paris), 116: 197–212.Google Scholar
Roger, H, Soulayrol, R., Hassoun, J., Gastaut, H. (1968). La Dyssynergie Cérébelleuse Myoclonique, Maladie de Ramsay-Hunt. Masson et Cie, Paris.Google Scholar
Roizin, L., Ferraro, A. (1942). Myoclonus epilepsy. J. Neuropath. Exp. Neurol. 1: 297.Google Scholar
Sato, (1929). Cit. Murakami (1957).Google Scholar
Schiller, S., Slover, G. A., Dorfman, A. (1961). A method for the separation of acid mucopolysaccharides; its application to the isolation of heparine from the skin of rat. J. Biol. Chem., 236: 983.Google Scholar
Schwarz, G. A., Yanoff, M. (1965). Lafora's disease. Distinct clinico-pathologic form of Unverricht's syndrome. Arch. Neurol. (Chicago), 12: 172–188.Google Scholar
Seitelberger, F., Jacob, H., Pfeiffer, J., Colmant, H. D. (1964). Die Myoklonuskörperchenkrankheit. Fortschr. Neurol. Psychiat., 32: 305–345.Google Scholar
Symonds, C. (1954). Myoclonus. Med. J. Aust., 41: 765–768.CrossRefGoogle ScholarPubMed
Tolone, S. (1950). Revisione clinica delle sindromi miocloniche. Acta Neurol. (Napoli), 5: 101–111.Google Scholar
Tolone, S. Sulla mioclono-epilessia Di Unverricht. Progr. Med. (Napoli), 1: 150.Google Scholar
Tukel, K., Caliskan, A. (1963). L'étude électroencéphalographique d'une famille dont deux membres sont atteints d'épilepsie myoclonique d'Unverricht-Lundborg. Rev. Neurol. (Paris), 3: 231.Google Scholar
Unverricht, H. (1891). Die Myoklonie. Deuticke, Leipzig-Wien.Google Scholar
Vanderhaegen, J. J., Manil, J., Franken, L., Cappel, R. (1967). Deux observations de spasmes de torsion, accompagnés de choréo-athétose avec nombreux corps de Lafora dans la partie externe du globus pallidus. Acta Neuropath. (Berlin), 9: 45–52.Google Scholar
Van Heycop Ten Ham, M. W., Jager, H. de (1963). Progressive myoclonus epilepsy with Lafora bodies, clinical and pathological features. Epilepsia (Amst.), 4: 95.Google Scholar
Van Hoof, F., Hageman-Bal, M. (1967). Progressive familial myoclonic epilepsy with Lafora bodies and histochemical study of cerebral biopsy. Acta Neuropath. (Berlin), 7: 315–326.CrossRefGoogle ScholarPubMed
Vercelli, G. (1938). Una varietà non descritta di malattia famigliare: retinite pigmentosa e mioclonoepilessia. Riv. Otoneurooftal., 15: 315–330.Google Scholar
Vogel, F., Hafner, H., Diebold, K. (1965). Zur Genetik der progressiven Myoklonusepilepsien (Unverricht-Lundborg). Humangenetik, 1: 437–475.Google Scholar
Weinberg, . Cit. Halliday, 1967.Google Scholar
Weingarten, K. (1957). Die myoklonischen Syndrome. Wiener Beiträge zur Neurologie und Psychiatrie, Bd. V. Maudrich, Wien-Bonn-Bern.Google Scholar
Westphal, A., Sioli, F. (1921). Weitere Mitteilung über den durch eigenartige Einschlüsse in den Ganglionzellen (Corpora amylacea) ausgezeichneten Fall von Myoklonus-Epilepsie. Arch. Psychiat. Nervenkr., 63: 1–36.Google Scholar