 |
|
Lafora's DiseaseComparison of Inclusion Bodies in Skin and in Brain
Bert L. S. M. Busard, MD;
Willy O. Renier, MD;
Fons J. M. Gabreëls, MD;
Henk H. J. Jaspar, MD;
Urbaan J. G. van Haelst, MD;
Joop L. Slooff, MD
Arch Neurol. 1986;43(3):296-299.
Abstract
• A patient had the clinical and neuropathologic signs of Lafora's disease. Skin biopsy specimens from the midcalf area confirmed earlier findings by showing numerous periodic acid-Schiff-positive inclusion bodies in eccrine sweat gland duct cells. In our patient, however, inclusion bodies were more abundantly present in the apocrine sweat gland duct cells of the axilla skin. In brain biopsy specimens and autopsy material the same periodic acid-Schiff-positive inclusion bodies were found. From these data it can be stated that skin biopsy of the axilla is the method of first choice in confirming the diagnosis.
Author Affiliations
From the Institutes of Neurology (Drs Busard, Renier, Gabreëls, and Jaspar) and Pathology (Drs van Haelst and Slooff), Radboud University Hospital, Nijmegen, the Netherlands.
Footnotes
Accepted for publication June 20, 1985.
Reprint requests to Institute of Neurology, Division of Child Neurology, Radboud University Hospital, Box 9101,6500 HB Nijmegen, the Netherlands (Dr Gabreëls).
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
Ganesh et al.
Hum Mol Genet 2002;11:1263-1271.
ABSTRACT
| FULL TEXT
Lafora's Disease: The Role of Skin Biopsy
Newton et al.
Arch Dermatol 1987;123:1667-1669.
ABSTRACT
A Unique Carbohydrate Binding Domain Targets the Lafora Disease Phosphatase to Glycogen
Wang et al.
J. Biol. Chem. 2002;277:2377-2380.
ABSTRACT
| FULL TEXT
|
