LAFORA'S disease 1 (progressive myoclonus epilepsy with Lafora inclusion bodies) is a rare hereditary disorder. It can be characterized clinically by the onset in adolescence of myoclonus, convulsions, and progressive dementia with inexorable progression to death within four to ten years. Of the few reported examples of this disease, most have been diagnosed at autopsy and studies have generally been restricted to histopathologic techniques. We recently have studied two patients with Lafora's disease in an attempt more clearly to define the clinical, genetic, and biochemical aspects of this disease. 2,3 The histology and ultrastructure of biopsy material from cerebral cortex, striated muscle, liver, and other sites were also studied. Because definite abnormalities were noted in many facets of our investigation, we are reporting our observations in detail. Report of Cases CASE 1.— A 19-year-old white boy was admitted to the North Carolina Baptist Hospital in October 1963, for evaluation of

Progressive Myoclonus Epilepsy With Lafora Inclusion Bodies: I. Clinical, Genetic, Histopathologic, and Biochemical Aspects

La Maladie De Lafora

Summary A longitudinal clinicoelectrophysiologic study was undertaken of a 15-year 2-month-old girl with Lafora disease who was diagnosed by skin biopsy and an immunohistochemical method with antisera against Lafora bodies. From age 10 years 5 months, 4 months after onset, EEG disclosed progressive deterioration of background activity and incremental increase in epileptic discharges. Photosensitivity was unique: Occipital spikes and diffuse spike-wave discharges were provoked by low-frequency repetitive photic stimuli but without elicitation of myoclonic seizures. Photosensitivity completely disappeared after age 13 years 10 months. High-voltage somatosensory evoked potentials (SEPs) and high-voltage flash visual evoked potentials (F-VEPs) were seen before age 13. After age 13, progressive prolongation of I-III and I-V interpeak latencies of auditory brainstem responses (ABRs), progressive prolongation of latencies of photoevoked eyelid microvibrations, delayed latencies of pattern-reversal visual evoked potentials, and a decrease in the V/I amplitude ratio of ABRs and the previously high F-VEP amplitudes were observed.



RESUME

Les auteurs ont suivi une jeune fille âgee de 15 ans et 2 mois, Presentant une maladie de Lafora diagnostiquee par biopsie cutanee et etude immunohistochimique au moyen d'un serum reagissant sur les corps de Lafora. A partir de l'âge de 10 ans et 5 mois, 4 mois apres le debut de la maladie, l'EEG a mis en evidence une deterioration progressive de l'activite de fond et une augmentation progressive des decharges epileptiques. Une photosensibilite tres particuliere a ete mise en evidence: des Pointes occipitales et des pointes-ondes diffuses etaient provoquees par la stimulation lumineuse intermittente a basse frequence, sans provoquer toutefois de crises myocloniques, cette photosensibilite a disparu completement apres l'âge de 13 ans et 10 mois. Des potentiels evoques somato-sensitifs de haut voltage et des potentiels evoques visuels au flash de haut voltage ont ete enregistres avant l'âge de 13 ans. Apres cet âge, les auteurs ont constate un allongement progressif des latences interpics I-III et I-IV des potentiels evoques auditifs precoces, un allongement progressif des latences des microvibrations palpebrales evoquees par la lumiere, un allongement des latences des potentiels evoques visuels par inversion de pattern, et une diminution de l'amplitude du rapport V/I des potentiels evoques auditifs precoces et des amplitudes des potentiels evoques visuels au flash.



RESUMEN

Se ha realizado un estudio longitudinal clinico-electrofisiologico en una nina de 15 anos y 2 meses de edad que padecia la enfermedad de Lafora diagnosticada mediante una biopsia cutanea y un metodo histoquimico con antisuero anticuerpos de Lafora. Desde la edad de 10 anos y 5 meses, 4 meses despues del comienzo de la enfermedad, aaparecio un deterioro progresivo de la actividad de fondo con un incremento de las descargas epilepticas. La fotosensibilidad fue muy especial: puntas occipitales y descargas difusas punta-onda fueron provocadas mediante estimulacion fotica repetitiva efectiva, de baja frecuencia, pero sin que se observaran ataques mioclonicos. La fotosensibilidad desaparecio completamente despues de la edad de 13 anos y 10 meses. Antes de la edad de 13 anos se observaron potenciales evocados somatosensoriales de alto voltaje y potenciales evocados visuales (F-VEPs) tras flash de alto voltaje. Despues de la edad de 13 anos se observaron: una progresiva prolongacion de las latencias interpicos de I-III y I-V de las respuestas auditivas de tronco cerebral (APRs), una prolongacion progresiva de las latencias de las vibraciones de los parpados evocadas foticamente, un retraso de las latencias de los potenciales evocados visuales inducidos por patrones graficos y una reduccion de la relacion V-I de los ABRs y de las previas amplitudes de los F-VEP.



ZUSAMMENFASSUNG

Eine klinisch-elektrophysiologische Langzeitstudie wurde bei einem jetzt 15 Jahre alten Madchen mit Lafora-Erkrankung durch gefuhrt. Die Diagnose war durch Hautbiopsie un durch immunhistochemische Methoden mit Antiseren gegen Laforakorper gestellt worden. Im Alter von 10,5 Jahren, 4 Monate nach Auftreten der Erkrankung, zeigte das EEG einen progredienten Abbau der Grundaktivitat und allmahliche Zunahme epileptischer Entladungen. Die Fotosensibilitat war auffallig: durch langsame repetitive Stimuli wurden occipitale spikes und diffuse spike-waves Entladungen provoziert ohne Auslosung einer myoklonischen Reaktion. Im Alter von 13,10 Jahren verschwand die Fotosensibilitat vollstandig. Amplitudenhohe somatosensorische EP und hohe Blitz-VEP wurden vor dem Alter von 13 Jahren und danach beobachtet. Die AEP zeigten allmahliche Verlangerung der I-III und I-V Latenzen, ferner eine Verlangerung der Licht-evozierten Augenlid-Mikrovibrationen und verzogerte Latenzen der VEP bei Musterumkehr. Ein Abfall der Amplitudenkorrelation V/1 der AEP und der Amplituden der F-VEP wurde ebenfalls festgestellt.

Longitudinal Clinicoelectrophysiologic Study of a Case of Lafora Disease Proven by Skin Biopsy

Lafora's AFORA'S disease is a rare form of myoclonus epilepsy. 1 It is characterized by myoclonus, generalized convulsions, and progressive mental deterioration which begin during adolescence. Death within four to ten years has been the inevitable outcome in all reported cases. This report describes the ultrastructure of the inclusion bodies found in cerebral cortical biopsy specimens from two patients with Lafora's disease. The ultrastructure of liver and gastrocnemius muscle are also briefly described. Detailed clinical, genetic, histopathologic, and biochemical data have been separately reported 2-4 so that only brief clinical reports are given here. Report of Cases CASE1.—A 19-year-old white boy, product of the equivalent of double-first cousin consanguineous parentage, had developed normally until age 17. Generalized convulsions began and soon were associated with diffuse asynchronous myoclonus, mental deterioration, and dystaxia. A cerebral cortical biopsy showed neuronal inclusion bodies of the Lafora type. Biochemical assays of glycogen and

Progressive Myoclonus Epilepsy With Lafora Inclusion Bodies: II. Studies of Ultrastructure

Des techniques histochimiques modernes des mucopolysaccharides et des glycoproteines ont ete appliquees, a l'etude des corps de Lafora, observees dans l'epilepsie-myoclonie. Les resultats obtenus ne plaident pas en faveur de la presence dans les corps de Lafora de glycogene ou de mucopolysaccharides acides, mais permettent d'etablir l'existence au sain de ces inclusions, de molecules complexes comprenant
 Ces observations ne permettent pas d'etablir s'il existe au sein des corps de Lafora un seul corps complexe aux proprietes chimiques diverses ou deux ou plusieurs composes chimiques differents.

Etude histochimique des corps de Lafora

[Progressive myoclonus epilepsy with Lafora bodies. (Clinical, polygraphic and anatomic study of a case)].

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[Progressive myoclonus epilepsy with Lafora bodies. (Clinical, polygraphic and anatomic study of a case)].