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

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.Hosp Sick Children, Dept Pediat, Div Neurol, Toronto, ON M5G 1X8, CanadaHosp Sick Children, Dept Genet, Div Neurol, Toronto, ON M5G 1X8, CanadaHosp Sick Children, Dept Pathol, Toronto, ON M5G 1X8, CanadaHosp Sick Children, Res Inst, Program Genet & Genom Biol, Toronto, ON M5G 1X8, CanadaUniv Toronto, Dept Mol & Med Genet, Toronto, ON M5G 1X8, CanadaUniv Fed Parana, Hosp Clin, Neurol Serv, Div Behav Neurol,Movement Disorder Unit, Curitiba, Parana, BrazilUniv Fed Sao Paulo, Dept Neurol & Neurosurg, Div Behav Neurol, Escola Paulista Med, Curitiba, Parana, BrazilKing Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi ArabiaUniv Fed Sao Paulo, Dept Neurol & Neurosurg, Div Behav Neurol, Escola Paulista Med, Curitiba, Parana, BrazilWeb of Scienc