Lafora's disease

1974 ◽  
Vol 30 (3) ◽  
pp. 189-196 ◽  
Author(s):  
S. Ram�n y Cajal ◽  
A. Blanes ◽  
A. Martinez ◽  
E. S�enz ◽  
M. Gutierrez
Keyword(s):  
Lafora's Disease

Lafora's disease in an epileptic Basset hound

1990 ◽  
Vol 38 (2) ◽  
pp. 75-79 ◽  
Author(s):  
Zijian Jian ◽  
M.R. Alley ◽  
Juliet Cayzer ◽  
G.R. Swinney
Keyword(s):  
Lafora's Disease

Lafora-Like Ground-Glass Inclusions in Hepatocytes of Pediatric Patients: A Report of Two Cases

2007 ◽  
Vol 10 (5) ◽  
pp. 351-357 ◽  
Author(s):  
Anne-Marie O'Shea ◽  
Gregory J. Wilson ◽  
Simon C. Ling ◽  
Berge A. Minassian ◽  
Julie Turnbull ◽  
...  
Keyword(s):  
Hepatitis B ◽  
Surface Antigen ◽  
Pediatric Patients ◽  
Hepatitis B Surface Antigen ◽  
Ground Glass ◽  
Ultrastructural Changes ◽  
Positive Staining ◽  
Cytoplasmic Inclusions ◽  
Lafora's Disease ◽  
Intracytoplasmic Inclusions

We report 2 cases of ground-glass hepatocyte inclusions occurring in pediatric patients. Case 1 had alpha-thalassaemia major and was receiving iron chelation therapy, whereas case 2 had trisomy 21 with a history of bone marrow transplantation for acute myeloid leukemia. The liver sections in both cases showed eosinophilic, periodic acid-Schiff diastase—positive intracytoplasmic inclusions that were negative for hepatitis B surface antigen. Immunohistochemically the inclusions showed positive staining with KM279, a monoclonal antibody against polyglucosan derived from Lafora inclusions. On electron microscopy, in case 1, intracytoplasmic inclusions were composed of degenerate organelles, glycogen, and irregular fibrillar structures; in case 2, they were composed of vesicular structures containing granular material. Ultrastructural changes in both cases differed from classical Lafora inclusions and ruled out hepatitis B surface antigen, glycogenosis type IV, and fibrinogen storage disease. Genetic analysis of the Lafora's disease genes performed in case 2 revealed no mutations. The development of hepatocyte cytoplasmic inclusions in both our cases could be related to medication effects, because similar inclusions were reported in patients using cyanamide. Drug-induced inclusions, mimicking Lafora's disease, should be included in the differential diagnosis of hepatocyte ground-glass inclusions.

Lafora's Disease

1986 ◽  
Vol 43 (3) ◽  
pp. 296 ◽  
Author(s):  
Bert L. S. M. Busard
Keyword(s):  
Lafora's Disease

Electrophysiological and neuropharmacological studies in a patient with Unverricht-Lafora's disease

Neurology ◽  
1967 ◽  
Vol 17 (5) ◽  
pp. 502-502 ◽  
Author(s):  
J.-L. Riehl ◽  
D. K. Lee ◽  
J. M. Andrews ◽  
W. J. Brown
Keyword(s):  
Lafora's Disease

Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

1987 ◽  
Vol 21 (6) ◽  
pp. 599-601 ◽  
Author(s):  
H. L. S. M. Busard ◽  
A. A. W. M. GabreëLs-Festen ◽  
W. O. Renier ◽  
F. J. M. Gabreës ◽  
A. M. Stadhouders
Keyword(s):  
Skin Biopsy ◽  
Reliable Test ◽  
Lafora's Disease

scholarly journals Mental deterioration in lafora's disease

1990 ◽  
Vol 48 (2) ◽  
pp. 236-240 ◽  
Author(s):  
A. Cukiert ◽  
M.M. Vilela ◽  
H.B. Scapolan ◽  
B. H. W. Lefèvre ◽  
L. Marques-Assis
Keyword(s):  
Social Life ◽  
Parietal Lobe ◽  
Neuropsychological Testing ◽  
Lafora Disease ◽  
Cortical Function ◽  
Progressive Dementia ◽  
Mental Deterioration ◽  
First Case ◽  
Lafora's Disease ◽  
Severe Impairment

Lafora's disease is included among the progressive myoclonic epilepsies. Despite the fact that dementia is a constant finding in this disease only a few papers have studied the timing of riental deterioration. We have performed wide neuropsychological testing in two cases early diagnosed as Lafora disease. The initial neuropsychological testing was carried out by the time there were no complaints of mental deterioration in both cases. In the first case consecutive neuropsychological testing demonstrated the rapidly progressive dementia. All neuropsychological testings in these cases showed severe impairment of right parietal lobe functions. Higher cortical functions related to language and intelectual processes were beet preserved in both cases. The functions related to constructional praxis, memory and abstract concepts and processes were severily impaired. Our data suggest that mental deterioration is an early manifestation in Lafora disease, even by the time normal social life is not yet disturbed. Dominant hemisphere cognitivo functions have been less impaired than the non-dominant ones. How a diffuse illness such as Lafora disease can cause such an asymmetrical higher cortical function deficit is not yet clear.

Late-onset Lafora's disease with typical intraneuronal inclusions

Neurology ◽  
1993 ◽  
Vol 43 (6) ◽  
pp. 1246-1246 ◽  
Author(s):  
M. A. Kaufman ◽  
A. J. Dwork ◽  
N. J. Willson ◽  
S. John ◽  
J. D. Liu
Keyword(s):  
Late Onset ◽  
Lafora's Disease

Semi-Late Onset and Rapidly Progressive Case of Lafora’s Disease with Predominant Cognitive Symptoms

1989 ◽  
Vol 29 (6) ◽  
pp. 333-338 ◽  
Author(s):  
Pierre Genton ◽  
Michel Borg ◽  
Piernanda Vigliano ◽  
Jean-François Pellissier ◽  
Joseph Roger
Keyword(s):  
Late Onset ◽  
Cognitive Symptoms ◽  
Lafora's Disease

Die Leber bei der progressiven Myoklonusepilepsie (Lafora's disease)

1974 ◽  
Vol 52 (12) ◽  
pp. 559-567 ◽  
Author(s):  
H. Huchzermeyer ◽  
L. Gerhard
Keyword(s):  
Lafora's Disease
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