 |
|
Studies in Myoclonus Epilepsy (Lafora Body Form)IV. Skeletal Muscle Abnormalities
Hans E. Neville, MD;
Michael H. Brooke, MD;
James H. Austin, MD
Arch Neurol. 1974;30(6):466-474.
Abstract
Muscle biopsy specimens from two patients with progressive myoclonus epilepsy (Lafora type) showed a prominent stippling pattern in muscle fibers with the nicotinamide adenine nucleotide dehydrogenase-tetrazolium reductase reaction, hematoxylin-eosin, and PAS stains. Ultrastructurally, stippling corresponds to small, membrane-bound packets of densely osmiophilic granules present in two sizes: one, 20 to 140 Angstroms; the other, identical to β-glycogen. Both are entirely removed after one-hour  -amylase digestion. In approximately 5% of the packets there are collections of 40 to 80 A fibrils strongly resembling cerebral Lafora bodies. Autophagic vacuoles appear in type 2A fibers. Material in the packets is probably a glycogen-like substance whose formation method is based on the general metabolic defect in progressive myoclonus epilepsy. The morphologic appearance of the tissue permits diagnosis using the benign technique of muscle biopsy.
Author Affiliations
Denver
From the Division of Neurology, University of Colorado Medical Center (Drs. Neville, Brooke, and Austin), and the Denver Veterans Administration Hospital (Dr. Neville), Denver.
Footnotes
Accepted for publication Nov 9, 1973.
Reprint requests to Division of Neurology, University of Colorado Medical Center, 4200 E Ninth Ave, Denver, CO 80220 (Dr. Neville).
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Phenytoin-Induced Dermatomyositis: Case Report and Literature Review
Dimachkie et al.
J Child Neurol 1998;13:577-580.
ABSTRACT
Genetic Influences in the Epilepsies: Review of the Literature With Practical Implications
Jennings and Bird
Arch Pediatr Adolesc Med 1981;135:450-457.
ABSTRACT
Muscle in Lafora Disease
Coleman et al.
Arch Neurol 1974;31:396-406.
ABSTRACT
|
