Results 141 to 150 of about 1,886 (182)

Lafora's disease

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, A, Blanes, A, Martinez, E, Sáenz, M, Gutierrez   +4 more
openaire   +4 more sources

Lafora Disease

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, Özlece, Hatice Köse, Gezgin, İnan, Adalı, Yasemen, Hüseyinoğlu, Ürfettin   +4 more
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Lafora disease with a fatal outcome

Arkhiv patologii, 2022
Lafora 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, D.V. Vasilchenko, S.V. Vtorushin   +2 more
openaire   +2 more sources

Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion

Cell Metabolism, 2019
Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. A hallmark of LD is the intracellular accumulation of insoluble polysaccharide deposits known as Lafora bodies (LBs) in the brain and other
M Kathryn Brewer, Grant L Austin, Peter J Roach   +2 more
exaly   +3 more sources

Early detection of skin and muscular involvement in lafora disease

Journal of Neurology, 1991
Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in ...
Sandro Iannaccone, Marco Zucconi, Angelo Quattrini   +2 more
exaly   +2 more sources

Lafora Disease in the Cow?

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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Pyruvate Metabolism in Lafora Disease

Epilepsia, 1989
Summary: 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, W O, Renier, F J, Gabreëls, J M, Trijbels, A J, Janssen, K J, Lamers   +5 more
openaire   +2 more sources

Unusual Presentation of Lafora's Disease

Journal of Child Neurology, 2003
Lafora'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, Berge A, Minassian, Cameron A, Ackerley, William J, Logan, Shelly, Weiss   +4 more
openaire   +2 more sources

Electroretinographic responses in lafora disease

Electroencephalography and Clinical Neurophysiology, 1978
In 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
openaire   +2 more sources

Lafora's disease and brain calcifications

Acta Neuropathologica, 1988
The 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
openaire   +2 more sources