20 research outputs found
Assessment of memory and executive function in major neuropsychiatric disorders using eye-tracking and neuromodulation
Politikai preferenciák és a lezárás iránti igény idegrendszeri korrelátumai
A szociális kognĂciĂłt vizsgálĂł irányzathoz kapcsolĂłdĂł kutatásunk cĂ©lja feltárni az ideolĂłgiai beállĂtottság Ă©s lezárás iránti igĂ©ny idegrendszeri hátterĂ©t, vagyis annak a vizsgálata, hogy mikĂ©nt fĂĽgg össze a fĹ‘kĂ©nt az anterior cinguláris kĂ©reghez (ACC) köthetĹ‘ konfliktusfĂĽggĹ‘ aktivitás a szemĂ©ly lezárási iránti igĂ©nyĂ©nek mĂ©rtĂ©kĂ©vel Ă©s politikai orientáciĂłjával. Amodio Ă©s munkatársai (2007) munkáját, melynek eredmĂ©nyei alapján a politikai beállĂtottság Ă©s az ACC konfliktusfĂĽggĹ‘ aktivitása között kapcsolat mutatkozott, összekapcsoltuk korábbi lezárás iránti igĂ©ny (LI) vizsgálatok eredmĂ©nyeivel, amelyek a LI Ă©s a politikai beállĂtottság kapcsolatárĂłl számolnak be (Jost et al., 2003; Kossowska & Van Hiel, 2003; Calogero, 2009). A korábbi eredmĂ©nyek alapján feltĂ©teleztĂĽk, hogy az alacsony lezárási igĂ©nyű szemĂ©lyek esetĂ©ben nagyobb konfliktusfĂĽggĹ‘ aktivitás lesz mĂ©rhetĹ‘ egy Go/No-go tĂpusĂş feladat során. A hibás válaszok után jelentkezĹ‘ hibafĂĽggĹ‘ negativitás (ERN) mĂ©rtĂ©ke nagyobb lesz az alacsony LI-jű Ă©s liberális szemĂ©lyek esetĂ©ben. A No-go ingerek után megjelenĹ‘ N2 negativitás mĂ©rtĂ©ke szintĂ©n az alacsony LI-jű, illetve liberális szemĂ©lyek esetĂ©ben lesz nagyobb. HipotĂ©ziseinket a következĹ‘ mĂ©rĹ‘eszközök segĂtsĂ©gĂ©vel teszteltĂĽk: az agyi aktivitást EEG Biosemi rendszerrel mĂ©rtĂĽk Go/Nogo tĂpusĂş feladattal egybekötve, Lezárási IgĂ©ny KĂ©rdĹ‘Ăvet alkalmaztunk, a politikai preferenciákat szintĂ©n kĂ©rdĹ‘Ăves mĂłdszerrel vizsgáltuk. EredmĂ©nyeink szerint a magas LI a konzervatĂvabb szemĂ©lyekre jellemzĹ‘bb. Szignifikáns pozitĂv korreláciĂł áll fenn a konzervatĂv beállĂtottság Ă©s a CRN aktivitás között, illetve az N2 aktivitások kĂĽlönbsĂ©ge között. Továbbá negatĂv, szignifikáns egyĂĽttjárás mutatkozott a radikális jobboldali beállĂtottság Ă©s a No-go válaszok után jelentkezĹ‘ P3 aktivitás között. A radikálisabb jobboldali preferenciájĂş rĂ©sztvevĹ‘k több hibát vĂ©tettek mind a Go, mind a Nogo kondĂciĂłban. Mind a kĂ©rdĹ‘Ăves, mind a viselkedĂ©ses feladat tekintetĂ©ben konzisztens eredmĂ©nyeket kaptunk neurokognitĂv mutatĂłk Ă©s a politikai beállĂtottság tekintetĂ©ben
Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient
Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities and variable types of movement disorders. To date, more than 30 STUB1 gene (NM_005861.4) mutations have been described in the genetic background of SCA48.The aim of this short report was to demonstrate the first Hungarian SCA48 patient caused by a novel STUB1 missense mutation (c.788G>C, p.Arg263Pro). The characteristics of detailed neurological phenotype, brain MRI and genetic assessment are presented and compared to previously published cases. The most important neurological findings of the patient were gait ataxia, dysarthria, cognitive decline and psychiatric problems including depression, anxiety and mild impulsivity. The brain MRI demonstrated cerebellar atrophy with posterolateral predominance and frontal lobe cortical atrophy. Clinical exome sequencing examination identified the above-mentioned missense variant located in the significant ubiquitinase domain of the CHIP protein.In this paper the first Hungarian SCA48 patient was described with characteristic neuropsychiatric signs and brain MRI abnormalities, due to a novel STUB1 gene missense mutation
Gender-Specific Degeneration of Dementia-Related Subcortical Structures Throughout the Lifespan
Age-related changes in brain structure are a question of interest to a broad field of research. Structural decline has been consistently, but not unambiguously, linked to functional consequences, including cognitive impairment and dementia. One of the areas considered of crucial importance throughout this process is the medial temporal lobe, and primarily the hippocampal region. Gender also has a considerable effect on volume deterioration of subcortical grey matter (GM) structures, such as the hippocampus. The influence of age×gender interaction on disproportionate GM volume changes might be mediated by hormonal effects on the brain. Hippocampal volume loss appears to become accelerated in the postmenopausal period. This decline might have significant influences on neuroplasticity in the CA1 region of the hippocampus highly vulnerable to pathological influences. Additionally, menopause has been associated with critical pathobiochemical changes involved in neurodegeneration. The micro- and macrostructural alterations and consequent functional deterioration of critical hippocampal regions might result in clinical cognitive impairment-especially if there already is a decline in the cognitive reserve capacity. Several lines of potential vulnerability factors appear to interact in the menopausal period eventually leading to cognitive decline, mild cognitive impairment, or Alzheimer's disease. This focused review aims to delineate the influence of unmodifiable risk factors of neurodegenerative processes, i.e., age and gender, on critical subcortical GM structures in the light of brain derived estrogen effects. The menopausal period appears to be of key importance for the risk of cognitive decline representing a time of special vulnerability for molecular, structural, and functional influences and offering only a narrow window for potential protective effects. © 2017 - IOS Press and the authors
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series
The prevalence of xeroderma pigmentosum (XP) is quite low in Europe, which may result in a delay in determining the appropriate diagnosis. Furthermore, some subtypes of XP, including XPA, may manifest themselves with quite severe neurological symptoms in addition to the characteristic dermatological lesions. Accordingly, the aim of the current study is to highlight the predominant neurological aspects of XPA, as well as mild-to-moderate dermatological signs in a Hungarian family with 5 affected siblings.The symptoms of the Caucasian male proband started to develop at 13-14 years of age with predominantly cerebellar, hippocampal, and brainstem alterations. His elder sister and three younger brothers all presented similar, but less expressed neurological signs. The diagnostic work-up, including clinical exome sequencing, revealed 2 novel compound heterozygous mutations (p.Gln146_Tyr148delinsHis, p.Arg258TyrfsTer5) in the XPA gene. Surprisingly, only mild-to-moderate dermatological alterations were observed, and less severe characteristic ophthalmological and auditory signs were detected.In summary, we present the first family with genetically confirmed XPA in the Central-Eastern region of Europe, clearly supporting the notion that disturbed function of the C-terminal region of the XPA protein contributes to the development of age-dependent neurologically predominant signs. This case series may help clinicians recognize this rare disorder