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Skin biopsy in Lafora disease

Genotype–phenotype correlations and diagnostic pitfalls

From the Program in Genetics and Genomic Biology (Drs. Andrade, Scherer, and Minassian), Research Institute, and Division of Neurology (Dr. Minassian), Departments of Paediatrics and Genetics, Department of Pathology (Dr. Ackerley), Hospital for Sick Children and University of Toronto, and Department of Molecular and Medical Genetics (Dr. Andrade), University of Toronto, Ontario, Canada; Division of Behavioral Neurology (Dr. Minett), Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, Escola Paulista de Medicina, and Movement Disorder Unit (Dr. Teive), Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil; and Department of Neurosciences (Dr. Bohlega), King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Address correspondence and reprint requests to Dr. B.A. Minassian, Division of Neurology, Departments of Paediatrics and Genetics, Hospital for Sick Children and University of Toronto, 555 University Ave., Toronto, Ontario, Canada M5G 1X8; e-mail: bminass{at}sickkids.ca

Lafora disease is characterized by pathognomonic inclusions, Lafora bodies (LB), in neurons and other cell types. In skin, LB have been reported in either eccrine sweat glands or in apocrine sweat glands. The disease is caused by mutations in either the EPM2A gene or in a second yet-unknown gene. Here the authors determine whether a genotype–phenotype correlation exists between the genetic form of the disease and the skin cell type affected by LB formation. Also is described an important source of false positivity in the use of axillary biopsies for disease diagnosis.

Received June 27, 2003. Accepted in final form August 5, 2003.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the December 9 issue to find the title link for this article.

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