Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

D. M. Andrade, C. A. Ackerley, T. S.C. Minett, H. A.G. Teive, S. Bohlega, S. W. Scherer, B. A. Minassian

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1611-1614
Number of pages4
JournalNeurology
Volume61
Issue number11
StatePublished - Dec 9 2003

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Lafora Disease
Sweat Glands
Genetic Association Studies
Genetic Skin Diseases
Apocrine Glands
Eccrine Glands
Biopsy
Skin
Inclusion Bodies
Genes
Neurons
Mutation

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

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

Skin biopsy in Lafora disease : Genotype-phenotype correlations and diagnostic pitfalls. / Andrade, D. M.; Ackerley, C. A.; Minett, T. S.C.; Teive, H. A.G.; Bohlega, S.; Scherer, S. W.; Minassian, B. A.

In: Neurology, Vol. 61, No. 11, 09.12.2003, p. 1611-1614.

Research output: Contribution to journalArticle

Andrade, DM, Ackerley, CA, Minett, TSC, Teive, HAG, Bohlega, S, Scherer, SW & Minassian, BA 2003, 'Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls', Neurology, vol. 61, no. 11, pp. 1611-1614.
Andrade DM, Ackerley CA, Minett TSC, Teive HAG, Bohlega S, Scherer SW et al. Skin biopsy in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls. Neurology. 2003 Dec 9;61(11):1611-1614.
Andrade, D. M. ; Ackerley, C. A. ; Minett, T. S.C. ; Teive, H. A.G. ; Bohlega, S. ; Scherer, S. W. ; Minassian, B. A. / Skin biopsy in Lafora disease : Genotype-phenotype correlations and diagnostic pitfalls. In: Neurology. 2003 ; Vol. 61, No. 11. pp. 1611-1614.
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