Niemann-Pick disease type C is a rare lipid trafficking disorder characterized by the accumulation of cholesterol and glycosphingolipids in the brain and viscera. Perinatal, early infantile, late infantile, juvenile and adult forms are distinguished based on the age of manifestation. In the juvenile form, patients in their early years are usually, but not always, symptom free, but present with neurodegeneration later in their lives. These include clumsiness, ataxia, seizures, motor and intellectual decline. Psychiatric manifestations may occur at any stage of the disease. These manifestations include schizophrenia, presenile dementia, depression or psychosis. In 2009, miglustat was approved for the therapy of the disease. We present a case of a patient with juvenile Niemann-Pick C disease whose psychosis was reversed completely by miglustat treatment. Based on our clinical experience we suggest considering Niemann-Pick C in cases of therapy-resistant psychosis and encourage the introduction of miglustat in Niemann-Pick C patients even in the most advanced cases, with respect to psychiatric illness.
We assessed cognitive function of female rheumatoid arthritis (RA) patients and analyze the determinants, with special focus on cerebrovascular morphology. Sixty methotrexate (MTX-) or biologic-treated RA patients and 39 healthy controls were included in a cross-sectional study. Smoking habits, alcohol intake and time spent in education were recorded. Standard measures were performed to assess cognitive function (Montreal Cognitive Assessment, MOCA; Trail Making Test, TMT; Victoria Stroop Test, VST; Wechsler Adult Intelligence Scale, WAIS; Benton Visual Retention test, BVRT), depression (Beck Depression Inventory, BDI), anxiety (State-Trait Anxiety Inventory, STAIT/S) and general health status (Short Form 36, SF-36). Mean disease activity (28-joint Disease Activity Score, mDAS28; erythrocyte sedimentation rate, mESR; C-reactive protein, mCRP) of the past 12 months was calculated; anti-cyclic citrullinated peptide (CCP) and rheumatoid factor (RF) were assessed. Cerebral vascular lesions and atrophy, carotid intima-media thickness (cIMT) and plaques, as well as median cerebral artery (MCA) circulatory reserve capacity (CRC) were assessed by brain magnetic resonance imaging (MRI), carotid ultrasound and transcranial Doppler, respectively. Cognitive function tests showed impairment in RA vs controls. Biologic-vs MTX-treated subgroups differed in TMT-A. Correlations were identified between cognitive function and depression/anxiety tests. WAIS, STAIS, STAIT and BDI correlated with most SF-36 domains. Numerous cognitive tests correlated with age and lower education. Some also correlated with disease duration, mESR and mDAS28. Regarding vascular pathophysiology, cerebral vascular lesions were associated with VST-A, carotid plaques with multiple cognitive parameters, while MCA and CRC with MOCA, BVRT and BDI. RA patients have significant cognitive impairment. Cognitive dysfunction may occur together with or independently of depression/anxiety. Older patients and those with lower education are at higher risk to develop cognitive impairment. Cognitive screening might be a useful tool to identify subgroups to be further investigated for cerebrovascular pathologies.
Mutations in the mitochondrial genome can impair normal metabolic function in the central nervous system (CNS) where cellular energy demand is high. Primary mitochondrial DNA (mtDNA) mutations have been linked to several mitochondrial disorders that have comorbid psychiatric, neurologic, and cognitive sequelae. Here, we present a series of cases with primary mtDNA mutations who were genotyped and evaluated across a common neuropsychological battery. Nineteen patients with mtDNA mutations were genotyped and clinically and cognitively evaluated. Pronounced deficits in nonverbal/visuoperceptual reasoning, verbal recall, semantic word generativity, and processing speed were evident and consistent with a "mitochondrial dementia" that has been posited. However, variation in cognitive performance was noteworthy, suggesting that the phenotypic landscape of cognition linked to primary mtDNA mutations is heterogeneous. Our patients with mtDNA mutations evidenced cognitive deficits quite similar to those commonly seen in Alzheimer's disease and could have clinical relevance to the evaluation of dementia.
A double-blind, prospective, randomized, placebo-controlled clinical trial was carried out to test the acute and long-term hemodynamical and beneficial cognitive effects of the vasoactive agent vinpocetine on patients suffering from multiple cerebral infarcts by means of functional transcranial Doppler examinations and by neuropsychological tests. Twenty-six patients (17 men, 9 women) with multiple cerebral infarctions, aged between 50 and 83 years (mean age+/-SD=63.4+/-9.39 years) were examined, 14 of whom received vinpocetine and 12 placebo. The functional transcranial Doppler included breath-holding tests, finger movement, word fluency, and picture-discrimination tasks. Twenty-five patients were assessed by neuropsychological battery. No serious side effect was found in the vinpocetine group. The flow velocities were significantly lower in the acute phase after breath holding in the vinpocetine group than in the placebo group. Three months later, the vinpocetine patients did not show any significant worsening in digit span backward test, while the placebo group did. No other significant differences in the neuropsychological test could be detected between the treatment and the placebo groups. Longer lasting and higher dosage of vinpocetine therapy is suggested to prove its potential effect.
We present a case of a man with an ischemic lesion of the left hippocampus. Detailed neuropsychological assessment revealed susceptibility to retroactive interference and a tendency to make intrusion errors in addition to mild deficits in the verbal memory processes. Although retroactive interference and intrusion errors are normally considered to be the manifestations of frontal lobe dysfunctions, the idea of susceptibility to interference has recently begun to emerge in the literature, as an explanation of medial temporal lobe amnesia. Our data support this new theory, suggesting that one role of the hippocampus is to decrease the interference during the learning processes.
The importance of optimal blood pressure control for preventing or reducing the impairment of vascular and cognitive functions is well known. However, the reversibility of early alterations in vascular and cognitive functions through antihypertensive agents is under-investigated. In this study, we evaluated the influence of 3 months of angiotensin-converting enzyme (ACE) inhibition treatment on the morphological and functional arterial wall and cognitive performance changes in 30 newly diagnosed primary hypertensive patients. Common carotid intima-media thickness (IMT) and brachial artery flow-mediated dilatation (FMD) were detected by ultrasonography. Arterial stiffness indicated by augmentation index (AIx) and pulse wave velocity (PWV) was assessed by arteriography. Cognitive functions were assessed by neuropsychological examination. The executive function overall score was significantly higher at 3-month follow-up than at baseline (median, 0.233 (IQR, 0.447) vs –0.038 (0.936); P = .001). Three-month ACE inhibition did not produce significant improvement in IMT, FMD, AIx and PWV values. Significant negative associations were revealed between IMT and complex attention ( r = –0.598, P = .0008), executive function ( r = –0.617, P = .0005), and immediate memory ( r = –0.420, P = .026) overall scores at follow-up. AIx had significant negative correlations with complex attention ( r = –0.568, P = .001), executive function ( r = –0.374, P = .046), and immediate memory ( r = –0.507, P = .005). PWV correlated significantly and negatively with complex attention ( r = –0.490, P = .007). Timely and effective antihypertensive therapy with ACE inhibitors has significant beneficial effects on cognitive performance in as few as 3 months. Early ACE inhibition may have an important role in the reversal of initial impairments of cognitive function associated with hypertension-induced vascular alterations.
Bevezetés: A végrehajtó funkciók közé azon kognitív folyamatok tartoznak, amelyek képessé teszik a személyt a mindennapjai során a célirányos viselkedés fenntartására, a környezeti változásokhoz való alkalmazkodásra, valamint feladathelyzetekben kontrollálják és koordinálják a viselkedést. A végrehajtó funkciók felmérésére számos diagnosztikai eszközt alkalmaznak már széles körben, de ezek kiértékelését megnehezítette a magyar normatív adatok hiánya. Célkitűzés: A jelen tanulmány célja a magyar normatív adatok feltérképezése és a nem, az életkor és az iskolázottság hatásának megállapítása volt három gyakran használt, a végrehajtó funkciókat mérő teszt bevonásával. Módszer: Korra, nemre és iskolázottságra reprezentatív hazai mintán (316 fő: 175 nő, 141 férfi) felvételre került a Viktória Stroop Teszt, az Öt-Pont Teszt és a Trail Making Teszt. Eredmények: A teszteken nyújtott teljesítmény az idősebbek körében gyengébb volt, míg a magasabb iskolai végzettséggel rendelkezők magasabb pontszámokat értek el. Nem találtunk szignifikáns összefüggést a nem és a teszteken nyújtott teljesítmény között. A tesztek között szignifikáns korrelációt figyeltünk meg. Következtetés: A vizsgálatban használt tesztek értékesek lehetnek a klinikai gyakorlat és kutatás számára. Az általunk bemutatott normatív adatbázis értékes összehasonlítási alapot képez a végrehajtó funkciók és a kognitív funkciók romlásának vizsgálatában. Orv Hetil. 2023; 164(15): 577–585.
Bevezetés: A klinikai neuropszichológia bázisát az objektív, standardizált mérőeszközök használata adja. Számos korszerű, nemzetközileg elterjedt mérőeszköz a memória és a tanulás vizsgálatára azonban nem rendelkezik hazai normatív adatokkal, melyek leírása a kulturális és nyelvi különbségekből adódóan kiemelt jelentőségű. Célkitűzés: Tanulmányunk célja magyar reprezentatív mintán normatív adatok meghatározása – demográfiai változók függvényében –, végrehajtó funkciókat, emlékezeti működést és verbális tanulást vizsgáló neuropszichológiai tesztek kapcsán. Módszer: Életkorra, nemre és iskolázottságra reprezentatív hazai felnőttmintán felvételre került a Rey Auditív-Verbális Tanulási Teszt (RAVLT), a Prospektív és Retrospektív Emlékezeti Kérdőív (PRMQ) és a Montreal Kognitív Felmérés (MoCA). Eredmények: A magasabb iskolai végzettséggel rendelkezők jobb teljesítményt nyújtottak a PRMQ, MoCA és RAVLT teszteken. Az alapfokú iskolai végzettséggel rendelkezők rizikócsoportot képeztek a gyengébb verbális tanulási készségek és végrehajtó funkciók alakulásában, valamint több emlékezeti hibát vétettek. Az életkor mentén a PRMQ esetén nem találtunk jelentős különbséget, a MoCA és RAVLT teszteken azonban az életkor előrehaladtával teljesítménycsökkenést azonosítottunk. Nemi különbség a RAVLT-n mutatkozott: az azonnali és a késleltetett felidézés során is jobb teljesítményt nyújtottak a nők. Következtetés: Ajánlott az alkalmazott neuropszichológiai tesztek használata, a klinikai gyakorlatban és a tudományos kutatásban egyaránt, amihez a jelen tanulmányban bemutatott normatív adatbázis értékes összehasonlítási alapot adhat, ezáltal elősegítve a neurokognitív területeken mutatkozó elmaradások minél korábbi és pontosabb azonosítását. Orv Hetil. 2023; 164(16): 618–629.
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