Progressive myoclonus epilepsy with Lafora inclusion bodies. I. Clinical, genetic, histopathologic, and biochemical aspects.

@article{Janeway1967ProgressiveME,
  title={Progressive myoclonus epilepsy with Lafora inclusion bodies. I. Clinical, genetic, histopathologic, and biochemical aspects.},
  author={R. Janeway and J. Ravens and L. Pearce and D. L. Odor and K. Suzuki},
  journal={Archives of neurology},
  year={1967},
  volume={16 6},
  pages={
          565-82
        }
}
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… Expand
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With the exception of parental consanguinity the family reported here fulfils all the clinical criteria that have been regarded as typical of the Lafora-positive form of progressive myoclonus epilepsy but no LaforA bodies were present. Expand
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Although this patient's thyrotoxic state was likely not a direct result of his Lafora disease, given the diffuse deposition of La fora bodies, endocrinologic abnormalities should be considered in patients with LaforA disease. Expand
Lafora's disease: towards a clinical, pathologic, and molecular synthesis.
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Pathology reveals pathognomonic polyglucosan inclusions that are not seen in any other progressive myoclonus epilepsy, and work toward establishing the connection between laforin and Lafora's disease polyglUCosans is underway, as are attempts to replace it into the central nervous system of patients with LaforA's disease. Expand
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TLDR
Light microscopy observations demonstrate deposits of a PAS-positive homogene substance in liver cells—especially in the periphery of lobule— and sometimes in Kupffer cells, and the notable similarity of the light- and electronmicroscopic observations to results obtained in glycogenosis type IV suggest that Lafora's disease might be another form of glycogensosis. Expand
Studies in myoclonus epilepsy. (Lafora body form). IV. Skeletal muscle abnormalities.
Muscle biopsy specimens from two patients with progressive myoclonus epilepsy (Lafora type) showed a prominent stippling pattern in muscle fibers with the nicotinamide adenine nucleotideExpand
PROGRESSIVE MYOCLONIC EPILEPSY WITH LAFORA'S BODIES
TLDR
Two cases of Lafora's disease of rapid evolution with a typical clinical picture, and increased glutamic acid urine excretion are described, and the relation‐ship between PME and heredodegenerative ataxia is discussed. Expand
Lafora's Disease in South India: A Clinical, Electrophysiologic, and Pathologic Study
TLDR
The clinical pattern was consistent with autosomal recessive inheritance and the high frequency of consanguinity in the South Indian population may be responsible for the many cases observed at the NIMHANS center. Expand
Presenile dementia with "Lafora-like" intraneuronal inclusions.
An elderly man was affected by progressive dementia, motor neuron disease, and sensory abnormalities for about three years, since the age of 59. Seizures or myoclonus were not observed. On postmortemExpand
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