Prnp gene and cerebellum volume in patients with refractory mesial temporal lobe epilepsy

• Published in: Neurological sciences Vol. 35; no. 2; pp. 239 - 244
• Main Authors: Valadão, Michelle N., Coimbra, Érica R., Landemberger, Michele C., Velasco, Tonicarlo R., Terra, Vera C., Wichert-Ana, Lauro, Alexandre, Veriano, Araújo, David, Guarnieri, Ricardo, Martins, Vilma R., Santos, Antônio Carlos, Sakamoto, Américo C., Walz, Roger
• Format: Journal Article
• Language: English
• Published: Milan Springer Milan 01-02-2014; Springer Nature B.V
• Subjects: Adult; Alleles; Anticonvulsants - therapeutic use; Brain - pathology; Cerebellum - pathology; Electroencephalography; Epilepsy, Temporal Lobe - drug therapy; Epilepsy, Temporal Lobe - genetics; Epilepsy, Temporal Lobe - pathology; Epilepsy, Temporal Lobe - physiopathology; Female; Genetic Variation; Humans; Magnetic Resonance Imaging; Male; Medicine; Medicine & Public Health; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Organ Size; Original Article; Prion Proteins; Prions - genetics; Psychiatry; Seizures - drug therapy; Seizures - genetics; Seizures - pathology; Seizures - physiopathology; PrPc; Cerebellum volume; gene; Mesial temporal lobe epilepsy
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-013-1494-6

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.