HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Carpenter, S. Articles by Karpati, G. Search for Related Content PubMed PubMed Citation Articles by Carpenter, S. Articles by Karpati, G.

Sweat gland duct cells in Lafora disease

Diagnosis by skin biopsy

Department of Neurology-Neurosurgery, McGiil University, and the Montreal Neurological Institute, Montreal, Quebec, Canada.

Address correspondence and reprint requests to Dr. Carpenter, Montreal Neurological Institute, 3801 University Street, Montreal, Quebec H3A 2B4. Canada.

Skin biopsies of three patients with Lafora disease (clinically typical and proven by liver biopsy) showed PAS-positive inclusions in numerous peripheral cells of eccrine sweat ducts. By electronmicroscopy, the inclusions consisted of polyglucosan-type material; they were not bounded by a membrane. Skin biopsy should be a convenient method of diagnosing Lafora disease.

This article has been cited by other articles:

				J. Turnbull, S. Kumar, Z.-P. Ren, S. Muralitharan, T. Naranian, C. A. Ackerley, and B. A. Minassian Lafora Progressive Myoclonus Epilepsy: Disease Course Homogeneity in a Genetic Isolate J Child Neurol, February 1, 2008; 23(2): 240 - 242. [Abstract] [PDF]

				M. S. Gentry, R. H. Dowen III, C. A. Worby, S. Mattoo, J. R. Ecker, and J. E. Dixon The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease J. Cell Biol., July 24, 2007; 178(3): 477 - 488. [Abstract] [Full Text] [PDF]

				C. A. Worby, M. S. Gentry, and J. E. Dixon Laforin, a Dual Specificity Phosphatase That Dephosphorylates Complex Carbohydrates J. Biol. Chem., October 13, 2006; 281(41): 30412 - 30418. [Abstract] [Full Text] [PDF]

				M. S. Gentry, C. A. Worby, and J. E. Dixon From The Cover: Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin PNAS, June 14, 2005; 102(24): 8501 - 8506. [Abstract] [Full Text] [PDF]

				D. M. Andrade, C. A. Ackerley, T. S.C. Minett, H. A.G. Teive, S. Bohlega, S. W. Scherer, and B. A. Minassian Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls Neurology, December 9, 2003; 61(11): 1611 - 1614. [Abstract] [Full Text] [PDF]

				S. F. Al Otaibi, B. A. Minassian, C. A. Ackerley, W. J. Logan, and S. Weiss Unusual Presentation of Lafora's Disease J Child Neurol, July 1, 2003; 18(7): 499 - 501. [Abstract] [PDF]

				I. Taylor, I. E. Scheffer, and S. F. Berkovic Occipital epilepsies: identification of specific and newly recognized syndromes Brain, April 1, 2003; 126(4): 753 - 769. [Abstract] [Full Text] [PDF]

				B. A. Minassian, L. Ianzano, A. V. Delgado-Escueta, and S. W. Scherer Identification of new and common mutations in the EPM2A gene in Lafora disease Neurology, January 25, 2000; 54(2): 488 - 488. [Abstract] [Full Text] [PDF]

				A.O. Ogunyemi and F.E. Dreifuss Syndromes of Epilepsy in Childhood and Adolescence J Child Neurol, July 1, 1988; 3(3): 214 - 224. [Abstract] [PDF]

				B. L. S. M. Busard, W. O. Renier, F. J. M. Gabreels, H. H. J. Jaspar, U. J. G. van Haelst, and J. L. Slooff Lafora's Disease: Comparison of Inclusion Bodies in Skin and in Brain Arch Neurol, March 1, 1986; 43(3): 296 - 299. [Abstract] [PDF]