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I. Clinical, Genetic, Histopathologic, and Biochemical Aspects

Richard Janeway, MD; J. Rupert Ravens, MD; Larry A. Pearce, MD; D. Louise Odor, PhD; Winston-Salem, NC; Kunihiko Suzuki, MD

Arch Neurol. 1967;16(6):565-582.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

LAFORA'S disease¹ (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 disease in an attempt more clearly to define the clinical, genetic, and biochemical aspects of this disease.^2,3 The histology and ultrastructure of biopsy material from cerebral cortex, striated muscle, liver, and other sites were also studied. Because definite abnormalities were noted in many facets of our investigation, we are reporting our observations in detail.

Report of Cases

CASE 1.—

A 19-year-old white boy was admitted to the North Carolina Baptist Hospital in October 1963, for evaluation of . . . [Full Text PDF of this Article]

Author Affiliations
New York

From the Department of Neurology (Dr. Janeway and Dr. Pearce), Department of Pathology (Section on Neuropathology) (Dr. Ravens), and the Department of Anatomy (Dr. Odor), the Bowman Gray School of Medicine of Wake Forest College, Winston-Salem, NC; and the Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, Yeshiva University, New York (Dr. Suzuki).

Footnotes
Submitted fcr publication Sept 15, 1966; accepted Dec 3.

Read in part before the meeting of the American Neurological Association, Atlantic City, NJ, June 1965.

Reprint requests to Department of Neurology, Bowman Gray School of Medicine of Wake Forest College, Winston-Salem, NC 27103 (Dr. Janeway).

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