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Prnp gene and cerebellum volume in patients with refractory mesial temporal lobe epilepsy |
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| Authors: | Michelle N. Valadão Érica R. Coimbra Michele C. Landemberger Tonicarlo R. Velasco Vera C. Terra Lauro Wichert-Ana Veriano Alexandre Jr. David Araújo Jr. Ricardo Guarnieri Vilma R. Martins Antônio Carlos Santos Américo C. Sakamoto Roger Walz |
| Affiliation: | 1. Departamento de Neurociências e Ciências do Comportamento, Faculdade de Medicina de Ribeir?o Preto, Universidade de S?o Paulo (FMRP-USP), Ribeir?o Preto, SP, Brazil 2. CIREP, Centro de Cirurgia de Epilepsia, FMRP-USP, Ribeir?o Preto, SP, Brazil 4. Brain Imaging Center, McGill University, Montreal, Canada 3. Centro de Imagens-Departamento de Clínica Medica, Faculdade de Medicina de Ribeir?o Preto, Universidade de S?o Paulo (FMRP-USP), Ribeir?o Preto, SP, Brazil 5. Centro de Epilepsia do Estado de Santa Catarina (CEPESC), Hospital Governador Celso Ramos, Florianópolis, SC, Brazil 6. Centro de Neurociências Aplicadas (CeNAp), Hospital Universitário, Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil 7. International Research Center, IAC Camargo Hospital, S?o Paulo, SP, Brazil 8. Departamento de Clínica Médica, Hospital Universitário, 3o andar, UFSC, Campus Universitário, Trindade Florianópolis, SC, Brazil |
| Abstract: | The cellular prion protein, encoded by Prnp gene, is involved in neuroprotection, neuroplasticity and neurodevelopment. The variant allele Valine at codon 129 of the Prnp was associated with decreased brain volume in healthy volunteers and schizophrenic patients. We investigate the association between the cerebellum volume and the presence of variant allele Valine at codon 129 of the Prnp gene in patients with mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS). The Prnp coding sequence was determined in 41 refractory MTLE-HS patients. The cerebellum volume corrected by the intracranial volume of patients with the normal Prnp genotypes was compared with that of patients presenting the variant alleles at codon 129. Twenty patients showed the Met129Met genotype, 16 showed Met129Val, and 5 had Val129Val. There were no association among clinical, demographic, electrophysiological, antiepileptic drugs used, and the presence of the Prnp variant alleles. The presence of Prnp variant allele at codon 129 was not associated with the analyzed cerebellum volume. Prnp variant alleles at codon 129 are not associated with cerebellum volume in patients with refractory MTLE-HS. |
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