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NEUROLOGY 2004;63:557-560
© 2004 American Academy of Neurology
Brief Communications

Cortical malformations are associated with a rare polymorphism of cellular prion protein

R. Walz, MD PhD, R. M.R.P.S. Castro, PhD, M. C. Landemberger, T. R. Velasco, MD, V. C. Terra-Bustamante, MD, A. C. Bastos, MD, M. Bianchin, MD PhD, L. Wichert-Ana, MD PhD, D. Araújo, MD PhD, V. Alexandre, Jr., MD PhD, A. C. Santos, MD PhD, H. R. Machado, MD PhD, C. G. Carlotti, Jr., MD PhD, R. R. Brentani, MD PhD, V. R. Martins, PhD and A. C. Sakamoto, MD PhD

From CIREP (Drs. Walz, Velasco, Terra-Bustamante, Bianchin, Wichert-Ana, Araújo, Alexandre, Machado, Carlotti, Santos, and Sakamoto), Centro de Cirurgia de Epilepsia, Departamento de Neurologia, Psiquiatria e Psicologia Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo (FMRP-USP), Ribeirão Preto, São Paulo; Centro de Cirurgia de Epilepsia do Estado de Santa Catarina (Drs. Walz and Bastos), Hospital Governador Celso Ramos, Florianópolis, Santa Catarina; Faculdade de Medicina (Dr. Walz), Centro de Ciências da Saúde, Universidade do Vale to Itajaí (UNIVALI), Itajaí, Santa Catarina; Centro de Tratamento e Pesquisa Hospital do Câncer (Drs. Castro, Brentani, and Martins, and M.C. Landemberger), São Paulo; Ludwig Institute for Cancer Research (Drs. Brentani and Martins), São Paulo Branch; and Departamento de Anatomia e Cirurgia (Drs. Machado and Carlotti), FMRP-USP, Ribeirão Preto, São Paulo, Brazil.

Address correspondence and reprint requests to Dr. Roger Walz, Centro de Cirurgia de Epilepsia do Estado de Santa Catarina, Hospital Governador Celso Ramos, Rua Irmã Benvarda, S/N, 6° andar, Centro, 88.015–270, Florianópolis, SC, Brazil; or Dr. Vilma R. Martins, Ludwig Institute for Cancer Res., Rua Prof. Antônio Prudente 109 4A 01509–010, São Paulo, SP, Brazil; e-mail: vmartins{at}ludwig.org.br

Studies in animals lacking the cellular prion protein (PrPc) gene (Prnp) showed higher neuronal excitability in vitro and increased sensitivity to seizures in vivo. The authors previously reported a rare polymorphism at codon 171 (Asn->Ser) of human Prnp to be associated with mesial temporal lobe epilepsy related to hippocampal sclerosis. They demonstrated that the same variant allele is also associated with symptomatic epilepsies related to different forms of malformations of cortical development.

Received August 28, 2003. Accepted in final form February 27, 2004.






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