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The myocardium in Lafora disease
Acta Neuropathologica, 1975Histological, histochemical and electron microscopic studies on the myocardium of 3 Japanese patients with Lafora disease were carried out.
S, Yokoi, Y, Aihara, S, Maeda
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Archives of Neurology, 1974
Ultrastructural studies of muscle from a patient with Lafora disease showed sheets of glycogen particles and fine granular-filamentous material between myofibrils. These structures were frequently intermingled and stained intensely with silver proteinate, a specific stain for polysaccharides.
D L, Coleman +3 more
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Ultrastructural studies of muscle from a patient with Lafora disease showed sheets of glycogen particles and fine granular-filamentous material between myofibrils. These structures were frequently intermingled and stained intensely with silver proteinate, a specific stain for polysaccharides.
D L, Coleman +3 more
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Acta Neuropathologica, 1974
Cerebral biopsies of three patients aged 22, 18 and 16 years with myoclonic epilepsy contained Lafory bodies. Two were a brother and sister of consanguineous parents. The Lafora bodies occurred in most neurons but not in glial cells. The ultrastructure of these bodies showed a fibrillar and granular material in the perikaryon and neuropile.
S, Ramón y Cajal +4 more
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Cerebral biopsies of three patients aged 22, 18 and 16 years with myoclonic epilepsy contained Lafory bodies. Two were a brother and sister of consanguineous parents. The Lafora bodies occurred in most neurons but not in glial cells. The ultrastructure of these bodies showed a fibrillar and granular material in the perikaryon and neuropile.
S, Ramón y Cajal +4 more
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2017
Lafora hastalığı, miyoklonik nöbetler, serebellar ataksi, hızlı ilerleyici demans ve kötü prognoz ile karakterize, progresif myoklonik epilepsi sendromlarının nadir görülen, otozomal resesif bir formudur. Semptomlar, tipik olarak öncesinde motor ve mental gelişim açısından normal olan çocuklarda, 12- 17 yaşlar arasında başlar.
Ehi, Yusuf +4 more
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Lafora hastalığı, miyoklonik nöbetler, serebellar ataksi, hızlı ilerleyici demans ve kötü prognoz ile karakterize, progresif myoklonik epilepsi sendromlarının nadir görülen, otozomal resesif bir formudur. Semptomlar, tipik olarak öncesinde motor ve mental gelişim açısından normal olan çocuklarda, 12- 17 yaşlar arasında başlar.
Ehi, Yusuf +4 more
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Lafora disease with a fatal outcome
Arkhiv patologii, 2022Lafora disease is a rare hereditary genetic pathology of the nervous system (a group of progressive myoclonic epilepsies). The distinctive morphological feature of this disease is the presence of specific abnormal structures - polyglucosane bodies («Lafora bodies») in the brain tissue, myocardium, liver, and epithelium of the sweat gland ducts.
N.V. Krakhmal +2 more
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Journal of Comparative Pathology, 1994
Lafora disease in man is an autosomal recessive defect which affects carbohydrate metabolism and results in a progressive, ultimately fatal neurological condition. It is characterized histologically by intraneuronal cytoplasmic polyglucosan inclusions (Lafora bodies).
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Lafora disease in man is an autosomal recessive defect which affects carbohydrate metabolism and results in a progressive, ultimately fatal neurological condition. It is characterized histologically by intraneuronal cytoplasmic polyglucosan inclusions (Lafora bodies).
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Pyruvate Metabolism in Lafora Disease
Epilepsia, 1989Summary: Lafora disease is an autosomal recessive and progressive degenerative disorder of the central nervous system (CNS). The pathogenic mechanism has been presumed to be an inborn error of carbohydrate metabolism, although this has never been proved.
H L, Busard +5 more
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Unusual Presentation of Lafora's Disease
Journal of Child Neurology, 2003Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative.
Suad F, Al Otaibi +4 more
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Electroretinographic responses in lafora disease
Electroencephalography and Clinical Neurophysiology, 1978In 3 patients with Lafora disease specific ERGs were observed resembling closely those seen in the Schubert-Bronschein type of night blindness. In contrast to essential hemeralopia, where the b-wave is completely lacking a gradual recovery of the b-wave was recorded in Lafora disease. The recovery occurred within about 15 min of dark adaptation.
A D, Korczyn, N, Ben-Tovim
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Lafora's disease and brain calcifications
Acta Neuropathologica, 1988The brain from a 22-year-old man with progressive myoclonal epilepsy (Lafora's disease) was examined. Besides widespread inclusion bodies in the nerve cells calcifications were seen on the inner and outer surface of the brain. No gliosis was present but the astrocytes were enlarged.
S, Oster, E, Reske-Nielsen, I, Bruun
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