Cognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171

• Published in: Epilepsy & behavior Vol. 8; no. 3; pp. 635 - 642
• Main Authors: Coimbra, Érica R., Rezek, Karinne, Escorsi-Rosset, Sara, Landemberger, Michele C., Castro, Rosa M.R.P.S., Valadão, Michelle N., Guarnieri, Ricardo, Velasco, Tonicarlo R., Terra-Bustamante, Vera C., Bianchin, Marino M., Wichert-Ana, Lauro, Alexandre, Veriano, Brentani, Ricardo R., Martins, Vilma R., Sakamoto, Américo C., Walz, Roger
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-05-2006
• Subjects: Adult; Alleles; Cellular prion protein gene polymorphisms; Codon; Cognition; Cognition - physiology; DNA - analysis; Epilepsy, Temporal Lobe - genetics; Epilepsy, Temporal Lobe - pathology; Epilepsy, Temporal Lobe - surgery; Female; Humans; Logistic Models; Male; Mesial temporal lobe epilepsy; Neuropsychological Tests; Polymorphism, Genetic; Prions - genetics; Temporal Lobe - pathology; Cellular prion protein gene polymorphisms; Mesial temporal lobe epilepsy; Cognition
• ISSN: 1525-5050; 1525-5069
• DOI: 10.1016/j.yebeh.2006.02.007

Cognitive impairment has long been recognized in people with medically refractory epilepsies. Mesial temporal lobe epilepsy related to hippocampal sclerosis (MTLE-HS), the most common surgically remediable epileptic syndrome, has been associated with a cellular prion protein (PrPc) gene (
Prnp) variant allele at codon 171. The polymorphism consisting of a methionine-for-valine substitution at codon 129 has been associated with early cognitive deterioration in elderly people and patients with Down syndrome. The same variant allele in homozygosis (V129V) has been associated to a lower long-term memory in healthy humans. PrPc mediates several processes related to neuroplasticity, and its role in cognitive processes remains unknown. In this study, we evaluated the genetic contribution of
Prnp alleles to cognitive performance in patients with MTLE-HS. Cognitive performance, measured with 19 neuropsychological tests, of patients with refractory MTLE-HS with the normal
Prnp genotypes was compared with that of patients with the variant alleles at codons 129 and 171. With the effects of clinical, demographic, electrophysiological, and neuroimaging variable interactions controlled by multiple linear regression analysis and adjustment for multiple test comparisons, the presence of
Prnp variant alleles was found not to be significantly associated to cognitive performance of patients with MTLE-HS. The presence of variant alleles at codons 129 and 171 is not associated to cognitive performance of patients with refractory MTLE-HS.