Transient Effect of L‐Tryptophan in Progressive Myoclonus Epilepsy Without Lafora Bodies: Clinical and Electrophysiological Study
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Summary: A double‐blind crossover trial with 2 g L‐tryptophan ‐and placebo was carried out with five familial and two sporadic patients with progressive myoclonus epilepsy (PME) without Lafora bodies. L‐Tryptophan improved the clinical condition in six out of seven patients. Clinical improvement in ambulation, myoclonic jerks, and general condition was most evident. The change was statistically significant. In visual assessment of EEGs, the amount of paroxysmal activity and dysrhythmia of the background activity decreased in six out of seven patients on L‐tryptophan. The quantitative EEG revealed a decrease in the power bands of theta, alpha, and beta activity in five of six patients on the second day of L‐tryptophan treatment. In familial PME cases, the responses were consistently beneficial. With long‐term L‐tryptophan therapy, the effect disappeared or was even reversed in three of seven patients after 3 to 4 weeks. These findings indicate that therapy with serotonin precursors is worthy of further trial in PME and that deficient tryptophan metabolism may play a part in the etiology of PME without Lafora bodies. RÉSUMÉ Une étude en double‐aveugle avec le L‐tryptophane et un placebo a été effectuée chez 7 sujets atteints ďépilepsie myoclonique progressive (EMP) sans corps de Lafora: 5 cas familiaux et 2 sporadiques. Le L‐tryptophane a significativement amélioréľétat clinique de 6 des 7 patients, agissant principalement sur la démarche, les myoclonies et ľétat général. De même ľEEG a été amélioré six fois sur sept: atténuation de la dysrythmie et diminution des paroxysmes. ľétude quantitative de ľEEG a révélé de plus une diminution de ľénergie dans la bande des activités théta, alpha et béta cinq fois sur six patients dans le deuxieme jour du traitement. Dans les cas familiaux la réponse au traitement a été uniformément bénéfique. Mais dans les traitements de longue durée les effets du L‐tryptophane ont disparu ou se sont même inversés chez trois de sept sujets après trois ou quatre semaines. Pareilles constatations indiquent que les essais de traitement des EMP par les précurseurs de la sérotonine méritent ďêtre poursuivis et qu'un déficit de métabolisme du tryptophane peut jouer un rôle dans ľétiologie des EMP sans corps de Lafora. RESUMEN Se ha llevado a cabo un estudio doble ciego en cinco casos de epilepsía mioclónica progresiva sin cuerpos de Lafora (PME) y dos enfermos con mioclonías esporádicas tratados con 2 g L‐triptófano y placebo. Cinco de siete enfermos mejoraron con la administración de L‐triptófano, siendo la seguridad en la marcha, las mioclonías y el estado general los factores más beneficiados. Los cambios fueron estadisticamente significativos. El análisis visual de los EEG reveló una reducción de la cantidad de la actividad paroxística y de la disrítmía de la actividad de fondo en seis de siete pacientes que tomaban L‐triptófano. El EEG cuantitativo mostró una disminución de las bandas theta, alfa y beta en cinco de seis enfermos al segundo día de tratamiento con L‐triptófano. En los cases de PME familiar los resultados fueron consistentemente beneficiosos. En tres de siete casos de tratamiento prolongado los efectos desaparecieron ó, incluso, fueron opuestos a la tercera ó cuarta semana. Estos hallazgos indican que el tratamiento del sídrome de PME con precursores de la serotonina merece intentos adicionales y que una deficiencia en el metabolismo del triptófano puede contribuir a la etiología de la PME sin cuerpos de Lafora. ZUSAMMENFASSUNG Eine Doppelblindcross‐over‐Studie mit 2 g L‐Tryptophan und Placebo wurde mit 5 familiären und zwei sporadischen Fällen von progressiver Myoklonus‐Epilepsie (PME) ohne Laforakörperchen unternommen. L‐Tryptophan verbesserte den klinischen Zustand bei 6 von 7 Patienten. Die Gangsicherheit, myoklonische Zuckungen und der Allgemeinzustand waren am deutlichsten betroffen. Die Veränderung war statistisch signifikant. Bei der visuellen Auswertung der EEG hatten die paroxysmale Aktivität und die Dysrhythmie der Hintergrundstätigkeit bei 6 von 7 Patienten unter L‐Tryptophan abgenommen. Die quantitative EEG‐Auswertung zeigte eine Abnahme der Leistung im Theta‐ Alpha‐ und Beta,‐Band bei 5 von 6 Patienten am 2. Tag der L‐Tryptophan‐Behandlung. Bei familiären PME‐Fällen waren die Wirkungen durchaus günstig. Unter der Langzeittherapie mit L‐Tryptophan verschwand die Wirkung bei 3 von 7 Patienten nach 3 bis 4 Wochen oder sie verkehrte sich ins Gegenteil. Diese Beobachtungen zeigen an, daß es sich lohnt, die Therapie mit Serotonin‐Vorstufen beim PME‐Syndrom weiter zu erproben; ein unzureichender Tryptophan‐Metabolismus mag eine Rolle in der Ätiologie der PME ohne Laforakorperchen spielen.Keywords:
Progressive myoclonus epilepsy
Lafora Disease
Crossover study
We studied four patients affected by progressive myoclonic epilepsy: three patients had the clinical features of Lafora's disease while the fourth was affected by a Lundborg's type of myoclonic epilepsy. In all above cases we found no specific electroencephalographic records of Lafora's disease; muscle histochemistry was useful for the diagnosis and the demonstration of PAS positive and NADH-TR positive Lafora's bodies. The Authors discuss the nosographic situation of Lafora's body disease among the progressive myoclonic epilepsies.
Lafora Disease
Progressive myoclonus epilepsy
Myoclonic epilepsy
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Lafora's disease is a form of progressive myoclonic epilepsy characterized by seizures, myoclonus and dementia. We present the case of a 12-year-old girl who is complaining of epilepsy and myoclonic jerks starting a year ago, with deterioration of school performance, and abnormal EEG. The axillary skin biopsy showed PAS-positive inclusions in the cells of sweat glands, typical of Lafora's disease.
Lafora Disease
Progressive myoclonus epilepsy
Myoclonic Jerk
Myoclonic epilepsy
Girl
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Many of the progressive epilepsy syndromes with adolescent onset are classified as progressive myoclonus epilepsies. It is a heterogenous group of epilepsy syndromes associated with seizure, myoclonus, and progressive neurologic decline. This review focuses on the different adolescent-onset progressive myoclonus epilepsies including Unverricht–Lundborg disease, Lafora disease, juvenile-onset neuronal ceroid lipofuscinosis, sialidosis (cherry-red spot myoclonus), dentatorubral–pallidoluysian atrophy, and myoclonic epilepsy and ragged-red fibers. Their clinical presentations, neurophysiologic and neuroimaging findings, genetics, pathology, and diagnosis are discussed.
Progressive myoclonus epilepsy
Lafora Disease
Juvenile myoclonic epilepsy
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Lafora Disease
Progressive myoclonus epilepsy
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The presence of myoclonus in a patient has different meanings: there exist myoclonus without encephalopathy or epilepsy (sleep myoclonus), encephalopathies with non-epileptic myoclonus (Kinsbourne's syndrome), encephalopathies with epileptic myoclonus (progressive or not), epileptic encephalopathies with myoclonic seizures (the classic West and Lennox-Gastaut syndromes) and myoclonic epilepsies.Main types of myoclonic epilepsies (benign childhood myoclonic epilepsy, severe-polymorphic-myoclonic epilepsy, juvenile myoclonic epilepsy, childhood familial myoclonic epilepsy, benign reflex myoclonic epilepsy, as well as progressive myoclonic epilepsies, among which progressive myoclonic epilepsy (PME) type 1 (Unverricht-Lundborg's disease) and PME2 (Lafora type) are prominent, whereas other entities, such as those related to neuronal ceroid lipofuscinosis or mitochondrial cytopathies are discussed more briefly) are reviewed, analyzing clinical, EEG and therapeutic issues, while the most recent contributions in the field of genetics are considered.Myoclonic epilepsies constitute a very heterogeneous type of epilepsy, both in their origin and in their prognosis, with favorable forms of course along with other progressive and refractory forms with an ill-fated prognosis.
Progressive myoclonus epilepsy
Myoclonic epilepsy
Lafora Disease
Juvenile myoclonic epilepsy
Myoclonic Jerk
Epilepsy syndromes
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Progressive myoclonus epilepsy
Lafora Disease
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The diagnosis of Lafora's syndrome, progressive myoclonus epilepsy and intracytoplasmic periodic acid-Schiff-positive inclusions (Lafora bodies), was made by skin biopsy in a 16-year-old girl at the Depts of Pathology and Dermatology, University of Texas Medical Branch, Galveston, TX.
Lafora Disease
Progressive myoclonus epilepsy
Girl
Skin biopsy
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Lafora body is a rarely seen and progressive disease which is characterized by mental decline, myoclonus and generalized epilepsy. Definitive diagnosis is made with biopsy showing typical spherical PAS positive inclusion bodies. In this article, we present a case who had myoclonus, generalize seizure and dementia and diagnosed with Lafora body disease. Diagnosis was confirmed by axillary skin biopsy. Na Valproat 15 mg/kg was started by orally for myoclonic and generalized epilepsy. Partial improvement in both myoclonic and generalized seizure frequencies was seen.
Lafora Disease
Progressive myoclonus epilepsy
Skin biopsy
Brain biopsy
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The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht–Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosis of a PME depends on the specific disease. Lafora disease, the neuronal ceroid lipofuscinoses, and the neuronopathic form of Gaucher disease have an invariably fatal course. In contrast, Unverricht–Lundborg disease has a much slower progression, and with adequate care many patients have a normal life span. The specific diseases that cause PME are diagnosed by recognition of their age of onset, the associated clinical symptoms, the clinical course, the pattern of inheritance, and by special investigations such as enzyme measurement, skin/muscle biopsy, or gene testing.
Progressive myoclonus epilepsy
Lafora Disease
Neuronal ceroid lipofuscinosis
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Autosomal recessively inherited progressive myoclonus epilepsies (PMEs) include Lafora disease, Unverricht-Lundborg disease, the neuronal ceroid lipofuscinoses, type I sialidosis (cherry-red spot myoclonus), action myoclonus-renal failure syndrome, and type III Gaucher disease. Almost all the autosomal recessively inherited PMEs are lysosomal diseases, with the exception of Lafora disease in which neither the accumulating material nor the gene products are in lysosomes. Progress in identifying the causative defects of PME is near-complete. Much work lies ahead to resolve the pathobiology and neurophysiology of this group of devastating disorders.
Lafora Disease
Progressive myoclonus epilepsy
Neuronal ceroid lipofuscinosis
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