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

Coimbra, Érica R.; Rezek, Karinne; Escorsi-Rosset, Sara; Landemberger, Michele Christine; Castro, Rosa Maria R.P.S.; Valadão, Michelle Nave; Guarnieri, Ricardo; Velasco, Tonicarlo Rodrigues; Bianchin, Marino M.; Wichert‐Ana, Lauro; Alexandre, Veriano; Brentani, Ricardo R.; Martins, Vilma R.; Sakamoto, Américo Ceiki; Walz, Roger

doi:10.1016/j.yebeh.2006.02.007

Cited by 13 publications

(8 citation statements)

References 33 publications

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“…The codon 129 polymorphism was investigated in several disorders; in schizophrenia, mesial temporal lobe epilepsy, and frontotemporal lobar degeneration; an unequivocal influence was not demonstrated, while some studies indicate that in physiological activities like sleep, in ageing brain or in Alzheimer’s disease, the presence of a valine allele may have some role, although this is debated by others [ 70 – 79 ].…”

Section: Phenotypic Variability Of Human Prion Diseasementioning

confidence: 99%

Molecular Pathology of Human Prion Diseases

Kovács

Budka

2009

IJMS

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Prion diseases are fatal neurodegenerative conditions in humans and animals. In this review, we summarize the molecular background of phenotypic variability, relation of prion protein (PrP) to other proteins associated with neurodegenerative diseases, and pathogenesis of neuronal vulnerability. PrP exists in different forms that may be present in both diseased and non-diseased brain, however, abundant diseaseassociated PrP together with tissue pathology characterizes prion diseases and associates with transmissibility. Prion diseases have different etiological background with distinct pathogenesis and phenotype. Mutations of the prion protein gene are associated with genetic forms. The codon 129 polymorphism in combination with the Western blot pattern of PrP after proteinase K digestion serves as a basis for molecular subtyping of sporadic Creutzfeldt-Jakob disease. Tissue damage may result from several parallel, interacting or subsequent pathways that involve cellular systems associated with synapses, protein processing, oxidative stress, autophagy, and apoptosis.

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Section: Phenotypic Variability Of Human Prion Diseasementioning

confidence: 99%

Molecular Pathology of Human Prion Diseases

Kovács

Budka

2009

IJMS

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“… 172 However, Coimbra et al reported that N171S (and M129V) might not influence the cognitive performance of MTLE-HS patients. 173 …”

Section: Summary Of Prion Mutationsmentioning

confidence: 99%

Characterization of mutations in <em>PRNP</em> (prion) gene and their possible roles in neurodegenerative diseases

Bagyinszky

Giau

Youn

et al. 2018

NDT

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Abnormal prion proteins are responsible for several fatal neurodegenerative diseases in humans and in animals, including Creutzfeldt–Jakob disease (CJD), Gerstmann–Sträussler–Scheinker disease, and fatal familial insomnia. Genetics is important in prion diseases, but in the most cases, cause of diseases remained unknown. Several mutations were found to be causative for prion disorders, and the effect of mutations may be heterogeneous. In addition, different prion mutations were suggested to play a possible role in additional phenotypes, such as Alzheimer’s type pathology, spongiform encephalopathy, or frontotemporal dementia. Pathogenic nature of several prion mutations remained unclear, such as M129V and E219K. These two polymorphic sites were suggested as either risk factors for different disorders, such as Alzheimer’s disease (AD), variant CJD, or protease-sensitive prionopathy, and they can also be disease-modifying factors. Pathological overlap may also be possible with AD or progressive dementia, and several patients with prion mutations were initially diagnosed with AD. This review also introduces briefly the diagnosis of prion diseases and the issues with their diagnosis. Since prion diseases have quite heterogeneous phenotypes, a complex analysis, a combination of genetic screening, cerebrospinal fluid biomarker analysis and imaging technologies could improve the early disease diagnosis.

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“…Coimbra et al[75] studied the relationship between human prion protein ( PRNP ) gene variants and cognitive performance on a neuropsychological battery that included measures of intellectual functioning, memory, and confrontation naming in patients with mesial temporal lobe epilepsy and hippocampal sclerosis. After controlling for potential confounding factors, they found no relationship between PRNP variants and cognition.…”

Section: Do Genetic Factors Play a Role In Cognitive Dysfunction Assomentioning

confidence: 99%