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Studies in Myoclonus Epilepsy (Lafora Body Form) I. Isolation and Preliminary Characterization of Lafora Bodies in Two Cases

Susumu Yokoi, MD; James Austin, MD; Frank Witmer, ScD; Masao Sakai, MD
Arch Neurol. 1968;19(1):15-33. doi:10.1001/archneur.1968.00480010033002.
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THE LAFORA body form of myoclonus epilepsy is a genetically-determined (recessive) disease. It usually begins clinically in the teens, and ends fatally two to ten years later.1,2 Its cardinal clinical features are those of a progressive seizure disorder, with myoclonus, dementia, ataxia, and dysarthria.3

The round inclusions described by Lafora are the hallmark of this disorder.1 These Lafora bodies (LFB) occur not only in ganglion cells of the central nervous system, but also in the retinae and in the axones of spinal nerves. Another neuropathological feature is a degeneration of some ganglion cells severe enough to constitute a form of poliodystrophy. The histochemical and chemical nature of LFB have been points at issue. This situation has left unclear the precise relationship between LFB and the pathogenesis of the disease.

The purposes of this study are: (1) to note a method for isolating a Lafora body fraction


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