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1.
Medicina (Kaunas) ; 59(8)2023 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-37629650

RESUMO

Introduction: Previous epidemiological evidence has established the co-occurrence of malignant melanoma (MM) and Parkinson's disease (PD). Shared molecular mechanisms have been proposed to be implicated in this relationship. The aim of the present study was to assess the prevalence of MM in patients with sporadic and genetic types of PD, as well as in asymptomatic carriers of PD-related genes. Methods: Data regarding past medical history and concomitant disease of 1416 patients with PD (including 20 participants with prodromal disease who phenoconverted to PD), 275 healthy controls (HCs) and 670 asymptomatic carriers of PD-related genes were obtained from the database of the Parkinson's Progression Markers Initiative (PPMI). Focus was placed on information about a medical record of MM. We also retrieved data regarding the genetic status of selected PPMI participants with a positive MM history. Results: In total, 46 patients with PD reported a positive MM history. Concerning the genetic forms of PD, nine of these PD patients (2.47%) carried a Leucine Rich Repeat Kinase 2 (LRRK2) gene mutation (mainly the G2019S), while eight (4.49%) harbored a Glucocerebrosidase (GBA) gene mutation (mainly the N370S). No alpha-synuclein (SNCA) gene mutation was identified in patients with an MM history. The remaining 29 PD patients (3.5%) were genetically undetermined. In total, 18 asymptomatic carriers of PD-related genes had a positive medical history for MM: among them, 10 carried an LRRK2 gene mutation (2.69%) and 10 a GBA gene mutation (3.51%) (2 were dual carriers). MM history was identified for seven HCs (2.5%). Conclusions: We replicated the previously reported association between genetically undetermined PD (GU-PD) and MM. A correlation of LRRK2 mutations with the development of MM could not be verified in either symptomatic PD patients or asymptomatic carriers, implicating distinct pathogenetic mechanisms as compared to GU-PD. Importantly, despite the limited literature evidence on Gaucher disease, this study highlights for the first time the relatively high prevalence of MM among asymptomatic and symptomatic PD GBA mutation carriers, with potential clinical implications.


Assuntos
Melanoma , Doença de Parkinson , Neoplasias Cutâneas , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/epidemiologia , Doença de Parkinson/genética , Melanoma/complicações , Melanoma/epidemiologia , Melanoma/genética , Bases de Dados Factuais , Melanoma Maligno Cutâneo
2.
Int J Geriatr Psychiatry ; 35(8): 859-869, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32249449

RESUMO

OBJECTIVES: To examine the driving variables that predict accident probability in mild dementia due to Alzheimer's disease (AD), mild cognitive impairment (MCI) and healthy older control drivers in simulated driving. To compare the three groups in mean performance and in frequency of scores exceeding 1.5 SD from the mean. METHODS/DESIGN: Participants were 37 drivers with MCI, 16 drivers with AD, and 21 control drivers over the age of 52. Driving measures were derived from four rural driving conditions: moderate traffic without and with distraction and high traffic without and with distraction. The measures were z-transformed based on the performance of 90 control drivers of different ages. Two unexpected incidents occurred per condition, requiring the sudden breaking to avoid an accident. RESULTS: Drivers with AD showed significantly lower average speed, speed variability, greater headway distance, headway variability and average reaction time (RT) than control drivers. Drivers with MCI showed significantly lower average speed, greater headway distance and average RT than control drivers in the two conditions of distraction. No differences were found in accident probability. Drivers with AD had more deviant scores than both control drivers and drivers with MCI in most comparisons. Predictors of accident probability were average RT, speed variability and lateral position variability but MCI and AD status were not significant predictors in any of the regression models. CONCLUSIONS: Despite significant differences in performance, drivers with MCI and AD did not differ in accident probability from control drivers. An individualized approach of examining individual driving performance is recommended.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Acidentes , Humanos , Tempo de Reação
3.
Mov Disord ; 33(11): 1734-1739, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30288781

RESUMO

BACKGROUND: The p.A53T point mutation in the α-synuclein gene (SNCA) is a rare but highly relevant cause of autosomal dominant Parkinson's disease (PD). OBJECTIVES: The objective of this study was to assess striatal dopaminergic denervation in a cohort of symptomatic carriers of the p.A53T SNCA mutation as compared to PD patients. METHODS: Data from the Parkinson's Progression Markers Initiative database of 11 symptomatic p.A53T SNCA mutation carriers who underwent 123I-FP-CIT SPECT [(123) I-2ß-carbomethoxy-3ß-(4-iodophenyl)-N-(3-fluoropropyl) nortropane single photon emission computed tomography] imaging at our site were compared with those of 33 age-, sex-, and disease duration-matched PD patients. RESULTS: The p.A53T mutation carriers had significantly lower caudate nucleus binding ratio both contralaterally and ipsilaterally to the most affected side (P = .002 and P = .006) and a decreased contralateral caudate/putamen signal ratio (P = .007) as compared to PD. A similar degree of striatal asymmetry was observed in both subgroups. No correlation between scores in neuropsychological tests and caudate nucleus dopaminergic denervation could be demonstrated. CONCLUSIONS: PD patients harboring the p.A53T SNCA mutation show evidence of a more severe nigrostriatal denervation, especially evident in the caudate nucleus. The lack of significant differences in the putaminal binding ratios may reflect a floor effect or a true preferential targeting of the caudate terminals in p.A53T SNCA-associated PD. © 2018 International Parkinson and Movement Disorder Society.


Assuntos
Mutação/genética , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/genética , Tomografia Computadorizada de Emissão de Fóton Único , Tropanos , alfa-Sinucleína/genética , Adulto , Alanina/genética , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Cognitivos/etiologia , Estudos de Coortes , Corpo Estriado/efeitos dos fármacos , Dopamina/metabolismo , Feminino , Lateralidade Funcional , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Treonina/genética , Tropanos/farmacocinética
5.
Alzheimer Dis Assoc Disord ; 32(2): 107-113, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29702488

RESUMO

INTRODUCTION: According to latest research, a percentage of cognitively impaired drivers fail to recognize their areas of weakness and overestimate their driving abilities. METHODS: Twenty-seven individuals with amnestic mild cognitive impairment (MCI) and 26 healthy elderly drivers participated in a driving simulator study. After the driving assessment, participants were asked to self-evaluate their performance in comparison with what they considered as average for people of similar age and educational level. RESULTS: According to the applied mixed analysis of variance model, the MCI patients presented increased difficulties in estimating their driving performance to a greater extent in the rural environment in comparison with the urban condition. DISCUSSION: Our findings suggest that the ability of MCI patients to evaluate their driving performance accurately seems to be enhanced or compromised, depending on the number of cues available in their environment, suggesting that providing feedback may improve their metacognitive abilities.


Assuntos
Condução de Veículo/psicologia , Disfunção Cognitiva/complicações , Autoavaliação (Psicologia) , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos/estatística & dados numéricos
6.
J Biosoc Sci ; 45(2): 231-8, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22677147

RESUMO

The secondary sex ratio (the ratio of boys to girls at birth) may demonstrate a decline following community stress-inducing major destructive events. This study aims to investigate whether or not moderate adverse life events, in conjunction with endogenous psychological characteristics, can induce sufficient community stress to affect the sex ratio. From April 3rd to May 8th 2006 a moderate sized earthquake sequence occurred offshore the Greek island of Zakynthos, which had been hit by a destructive earthquake half a century earlier. The monthly sex ratio after the earthquake sequence was estimated and compared with that of previous and following years. Eleven months after the onset of the earthquakes the sex ratio fell to 1.000, and during the next two months (March and April) it declined further to 0.612. The sex ratio one year before its decline was 1.158 and over a total 6-year period, 3 years before and 3 years after the sequence, it was 1.063; the March-April decline in male births is significant (OR=0.53, 95% CI=0.32-0.86, p=0.013, and OR=0.57, 95% CI=0.36-0.91, p=0.023, respectively). Also, the number of boys relative to girls in March-April 2007 was significantly lower than during the same months 3 years before and after the sequence (OR=0.50, 95% CI=0.31-0.82, p=0.007). The findings suggest that basic biological characteristics, such as the sex ratio, can be affected by psychological stressors interwoven with the pertaining psychology of the population.


Assuntos
Terremotos/estatística & dados numéricos , Acontecimentos que Mudam a Vida , Dinâmica Populacional , Características de Residência , Razão de Masculinidade , Feminino , Seguimentos , Grécia , Humanos , Recém-Nascido , Masculino , Gravidez
7.
Geriatrics (Basel) ; 8(5)2023 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-37887969

RESUMO

The present study aims to explore the differences in the manifestation of cognitive decline and psychiatric symptoms across the different ages of MCI onset: early onset (EOMCI: <65 years old), middle onset (MOMCI: 65-75 years old), and late onset (LOMCI: >75 years old). It was hypothesized that individuals with EOMCI will preserve their cognitive functions to a greater extent as compared to individuals with LOMCI, even after adjusting the cognitive performance for age and education through the use of published Greek norms. The level of cognitive decline concerning MOMCI was evaluated for extracting more precise conclusions regarding the impact of the age of onset on the patterns of MCI symptomatology. The analyses of data were conducted in a Greek population of individuals with MCI, who were consecutive visitors of the Outpatient Memory Clinic of Nestor Alzheimer's Centre in Athens, Greece. The sample consisted of 297 participants who fulfilled the following inclusion criteria: MCI diagnosis based on Petersen's criteria, Greek mother language, and absence of a psychiatric history or chronic and incurable organic disease. The overall results support the presence of a cognitive advantage of the EOMCI group compared to the LOMCI group. In the MOMCI group, cognitive performance displayed a tendency to remain intermediate compared to the other two groups. Nonetheless, significant differences were observed when this group was compared with the LOMCI group. The current findings indicate that the age of onset should be taken under consideration in the neuropsychological assessment of individuals with MCI. The specific parameters could have implications in terms of prognosis as well as the design and implementation of tailored interventions.

8.
Geriatrics (Basel) ; 8(2)2023 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-36960993

RESUMO

The objective of the present work was to compare the levels of executive, emotional, and initiation apathy in individuals with mild cognitive impairment (MCI), mild Alzheimer's disease dementia (ADD), and cognitively intact healthy controls (HCs). Fifty-two patients with mild ADD, 40 individuals with MCI, and 37 cognitively intact individuals were included in the current study. The participants were consecutive visitors to the Outpatient Memory Clinic of "Nestor" Alzheimer's Center. The symptoms of apathy were measured with the dimensional apathy scale. Analyses showed that ADD patients had significantly higher degrees of executive, emotional, initiation, and overall apathy compared with both the MCI group and the HCs. Additionally, a significant difference was observed in the dimension of executive apathy between individuals with MCI and the HCs. In conclusion, the dimension of executive apathy was the most sensitive measure regarding the differentiation of individuals with mild ADD or MCI and HCs. Hence, detailed evaluation of executive apathy in older individuals referred to a memory clinic may provide useful information contributing to their diagnostic categorization and to the differentiation between neurocognitive disorders and healthy cognitive ageing.

9.
Appl Neuropsychol Adult ; 30(3): 340-351, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-34340605

RESUMO

Neuropsychology is a fast-growing specialty in Greece. This study surveyed the status of neuropsychologists in Greece investigating several aspects of the profession. An online-based questionnaire collected data from December 2019 to February 2020. A total of 133 participants specialized in neuropsychology were included in the final sample: 81% of the participants were women with a mean age of 35 years. In the total sample, 25.8% of the participants reported working in the hospital system, 18.5% in the university or college, and 17.7% in a private practice job. Greek professionals cited to engage actively in assessment (87.9%), in research (65.1%), in rehabilitation (47.7%), and teaching (30.2%). Professionals primarily declared to assess individuals with dementia (80.3%), depression (47.7%), and stroke (44.0%), and they reported neurologists, psychiatrists and psychologists as their leading sources of referrals. The top five perceived barriers to the field include the lack of recognized specialty (75.9%), the lack of clinical training opportunities (63.9%), the lack of strong professional associations (57.9%), the lack of access to neuropsychological instruments (57.9%) and the lack of willingness to collaborate between professionals (48.9%). The average monthly income of professionals represents a ratio of 0.76 in comparison to that of other scientists in the country and is the lowest reported among other countries. Despite the significant development of the profession, it is essential to create more clinical training opportunities, apply practices systematically to diverse populations, redefine the specialty of neuropsychology in the national health system of the country, and advocate for the profession.


Assuntos
Neuropsicologia , Acidente Vascular Cerebral , Humanos , Feminino , Adulto , Masculino , Neuropsicologia/métodos , Grécia , Inquéritos e Questionários
10.
J Parkinsons Dis ; 13(5): 811-818, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37424476

RESUMO

BACKGROUND: The role of blood uric acid as a biomarker in symptomatic motor PD has been increasingly established in the literature. OBJECTIVE: Our present study assessed the role of serum uric acid as a putative biomarker in a prodromal PD cohort [REM Sleep Behavior disorder (RBD) and Hyposmia] followed longitudinally. METHODS: Longitudinal 5-year serum uric acid measurement data of 39 RBD patients and 26 Hyposmia patients with an abnormal DATSCAN imaging were downloaded from the Parkinson's Progression Markers Initiative database. These cohorts were compared with 423 de novo PD patients and 196 healthy controls enrolled in the same study. RESULTS: After adjusting for age, sex, body mass index, and concomitant disorders (hypertension/gout), baseline and longitudinal serum uric acid levels were higher in the RBD subgroup as compared to the established PD cohort (p = 0.004 and p = 0.001). (Baseline RBD 6.07±1.6 vs. Baseline PD 5.35±1.3 mg/dL and Year-5 RBD 5.7±1.3 vs. Year-5 PD 5.26±1.33). This was also true for longitudinal measurements in the Hyposmic subgroup (p = 0.008) (Baseline Hyposmic 5.7±1.6 vs. PD 5.35±1.3 mg/dL and Year-5 Hyposmic 5.58±1.6 vs. PD 5.26±1.33). CONCLUSION: Our results indicate that serum uric acid levels are higher in prodromal PD subjects with ongoing dopaminergic degeneration compared to those with manifest PD. These data indicate that the well-established decrease in the levels of serum uric acid occurs with the transition from prodromal to clinical PD. Whether the higher levels of serum uric acid observed in prodromal PD may provide protection against conversion to full-blown clinical PD will require further study.


Assuntos
Doença de Parkinson , Transtorno do Comportamento do Sono REM , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Ácido Úrico , Anosmia , Transtorno do Comportamento do Sono REM/etiologia , Transtorno do Comportamento do Sono REM/complicações , Biomarcadores , Sintomas Prodrômicos
11.
Vision (Basel) ; 6(4)2022 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-36548937

RESUMO

Right temporal variant of frontotemporal dementia (rtv-FTD) represents an uncommon and recently described frontotemporal dementia (FTD) entity presenting with symptoms in many ways comparable to those of the frontal or behavioral variant of FTD (bv-FTD). The aims of this study were to explore the timing of cognitive and behavioral symptoms of rtv-FTD, and to compare the distinct cognitive deficits including prosopagnosia and behavioral symptoms of rtv-FTD patients with those observed in bv-FTD patients. We reviewed the records of 105 patients clinically diagnosed with FTD. A total of 7 patients (5 men/2 women) with FTD and marked right temporal atrophy in magnetic resonance imaging (MRI) were detected. Clinical features were compared with those observed in a group of 22 age-matched patients (16 men/6 women) with FTD and predominant frontal lobe atrophy. The main presenting symptoms of rtv-FTD were prosopagnosia, apathy, and episodic memory impairment. In contrast, social awkwardness and compulsive behaviors were dominant in later stages of the disease together with disinhibition and loss of insight with a marked personality change. Although the cognitive and behavioral profiles of patients with right temporal or frontal lobes atrophy present substantial similarities, each subtype has a number of distinct characteristics. It appears that prosopagnosia, obsessive behaviors, and psychotic symptoms are more prominent in rtv-FTD patients.

12.
Parkinsonism Relat Disord ; 98: 72-74, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35490542

RESUMO

We assessed non motor characteristics of 12 asymptomatic p.A53T mutation carriers (A53T-AC) compared with 36 healthy controls (HC) enrolled in the Parkinson's Progression Markers Initiative (PPMI) study. Olfaction score was lower and anxiety was marginally more prevalent in A53T- AC. These findings suggest distinct prodromal features in this group of subjects.


Assuntos
Sintomas Prodrômicos , alfa-Sinucleína , Biomarcadores , Heterozigoto , Humanos , Mutação/genética , alfa-Sinucleína/genética
13.
Geriatrics (Basel) ; 8(1)2022 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-36648906

RESUMO

BACKGROUND: the apolipoprotein e4 allele (APOE4) constitutes an established genetic risk factor for Alzheimer's Disease Dementia (ADD). We aimed to explore the frequency of the APOE isoforms in the Greek population of Southern Greece. METHODS: peripheral blood from 175 Greek AD patients, 113 with mild cognitive impairment (MCI), and 75 healthy individuals. DNA isolation was performed with a High Pure PCR Template Kit (Roche), followed by amplification with a real-time qPCR kit (TIB MolBiol) in Roche's Light Cycler PCR platform. RESULTS: APOE4 allele frequency was 20.57% in the ADD group, 17.69% in the MCI group, and 6.67% in the control group. APOE3/3 homozygosity was the most common genotype, while the frequency of APOE4/4 homozygosity was higher in the AD group (8.60%). APOE4 carrier status was associated with higher odds for ADD and MCI (OR: 4.49, 95% CI: [1.90-10.61] and OR: 3.82, 95% CI: [1.59-9.17], respectively). CONCLUSION: this study examines the APOE isoforms and is the first to report a higher APOE frequency in MCI compared with healthy controls in southern Greece. Importantly, we report the occurrence of the APOE4 allele, related to ADD, as amongst the lowest globally reported, even within the nation, thus enhancing the theory of ethnicity and latitude contribution.

14.
Parkinsonism Relat Disord ; 84: 1-4, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33508700

RESUMO

INTRODUCTION: Blood uric acid represents an important biomarker in sporadic Parkinson's disease (PD). Whether uric acid levels change in genetic forms of PD is beginning to be assessed. The aim of the present study was to evaluate differences in serum uric acid level among PD patients harboring mutations in the glucocerebrosidase (GBA1) gene, sporadic PD, and healthy controls followed longitudinally. METHODS: Longitudinal 2-year serum uric acid measurement data of 120 GBA-PD patients have been downloaded from the Parkinson's Progression Markers Initiative (PPMI) database. This cohort was compared with 369 de novo sporadic PD patients and 195 healthy controls enrolled in the same study. RESULTS: Following adjustment for age, sex and BMI the GBA-PD cohort exhibited lower 2-year longitudinal uric acid level as compared to the controls (p = 0.016). Baseline uric acid measurements showed only a marginal difference (p = 0.119), but year 2 uric acid levels were lower in the GBA-PD cohort (p < 0.001). There was no difference in baseline, year 2 and 2-year longitudinal serum uric acid in the GBA-PD cohort as compared to sporadic PD (p = 0.664, p = 0.117 and p = 0.315). CONCLUSIONS: This is the first study to assess serum uric acid in a GBA-PD cohort. Our findings suggest that low serum uric acid might be a progression biomarker in GBA-PD. However, more studies (ideally longitudinal) on the association between low serum uric acid and clinical data in GBA-PD are needed. These results are consistent with data from previous reports assessing uric acid as a biomarker in other genetic forms of PD.


Assuntos
Glucosilceramidase/genética , Doença de Parkinson/sangue , Doença de Parkinson/diagnóstico , Doença de Parkinson/genética , Ácido Úrico/sangue , Idoso , Biomarcadores/sangue , Progressão da Doença , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade
15.
Parkinsonism Relat Disord ; 91: 1-8, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34425330

RESUMO

INTRODUCTION: Higher prevalence of motor and non-motor features has been observed in non-manifesting mutation carriers of Parkinson's Disease (PD) compared to Healthy Controls (HC). The aim was to detect the differences between GBA and LRRK2 mutation carriers without PD and HC on neuropsychiatric symptoms. METHODS: This is a cross-sectional retrospective study of non-manifesting GBA and LRRK2 mutation carriers and HC enrolled into Parkinson's Progression Markers Initiative (PPMI). Data extracted from the PPMI database contained: demographics and performance in MoCA scale and MDS-UPDRS scale part 1A (neuropsychiatric symptoms). All six features were treated as both continuous (MDS-UPDRS individual scores) and categorical variables (MDS-UPDRS individual score>0 and MDS-UPDRS individual score = 0). Logistic regression analyses were applied to evaluate the association between mutation carrying status and neuropsychiatric symptoms. RESULTS: In this study, the neuropsychiatric evaluation was performed in 285 GBA non-manifesting carriers, 369 LRRK2 non-manifesting carriers and 195 HC. We found that GBA non-manifesting mutation carriers were 2.6 times more likely to present apathy compared to HC, even after adjustment for covariates (adjusted OR = 2.6, 95% CI = 1.1-6.3, p = 0.031). The higher percentage of apathy for LRRK2 carriers compared to HC was marginally non-significant. GBA carriers were 1.5 times more likely to develop features of anxiety compared to LRRK2 carriers (adjusted OR = 1.5, 95% CI = 1.1-2.2, p = 0.015). Other neuropsychiatric symptoms, such as psychotic or depressive manifestations, did not differ between groups. CONCLUSION: Symptoms of apathy could be present in the prediagnostic period of non-manifesting mutation carriers, especially, GBA. Longitudinal data, including detailed neuropsychiatric evaluation and neuroimaging, would be essential to further investigate the pathophysiological basis of this finding.


Assuntos
Apatia , Glucosilceramidase/genética , Heterozigoto , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Doença de Parkinson/genética , Idoso , Estudos de Casos e Controles , Estudos Transversais , Bases de Dados Factuais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Testes Neuropsicológicos , Estudos Retrospectivos
16.
J Parkinsons Dis ; 11(2): 633-640, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33682725

RESUMO

BACKGROUND: Previous studies have highlighted serum uric acid as a putative idiopathic Parkinson's disease (iPD) biomarker. Only one study, so far, showed higher levels of serum uric acid in leucine-rich repeat kinase 2 (LRRK + 2) carriers compared to those who developed PD, however a longitudinal comparison between LRRK2 + PD and healthy controls (HC) has not been performed. OBJECTIVE: The aim of this study was to determine whether there are longitudinal differences in serum uric acid between iPD, LRRK2 + PD and HC and their association with motor and non-motor features. METHODS: Longitudinal data of uric acid of 282 de novo iPD, 144 LRRK2 + PD patients, and 195 age-matched HC were obtained from the Parkinson's Progression Markers Initiative (PPMI) database. We also used longitudinal Montreal Cognitive Assessment (MoCA), Movement Disorder Society-Unified Parkinson's Disease Rating Scale part III (MDS-UPDRS-III), Geriatric Depression Scale (GDS) scores, and DaTSCAN striatal binding ratios (SBRs). RESULTS: Longitudinal uric acid measurements were significantly lower in LRRK2 + PD patients compared to HC up to 5 years follow-up. There was no significant impact or correlation of adjusted or unadjusted uric acid levels with MoCA, MDS-UPDRS III, or GDS scores, the presence of RBD or DAT-SCAN SBRs. CONCLUSION: LRRK2 + PD group had significantly lower uric acid concentrations compared to HC after adjusting for age, sex and baseline BMI up to 5 years follow-up. There were no significant associations between uric acid levels and indices of disease severity. These findings identify serum uric acid as a marker linked to LRRK2 + PD.


Assuntos
Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/genética , Doença de Parkinson , Ácido Úrico/química , Idoso , Biomarcadores , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina/química , Mutação , Ácido Úrico/metabolismo
17.
J Alzheimers Dis ; 84(3): 1005-1014, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34602476

RESUMO

BACKGROUND: The driving behavior of patients with mild Alzheimer's disease dementia (ADD) and patients with mild cognitive impairment (MCI) is frequently characterized by errors. A genetic factor affecting cognition is apolipoprotein E4 (APOE4), with carriers of APOE4 showing greater episodic memory impairment than non-carriers. However, differences in the driving performance of the two groups have not been investigated. OBJECTIVE: To compare driving performance in APOE4 carriers and matched non-carriers. METHODS: Fourteen APOE4 carriers and 14 non-carriers with amnestic MCI or mild ADD underwent detailed medical and neuropsychological assessment and participated in a driving simulation experiment, involving driving in moderate and high traffic volume in a rural environment. Driving measures were speed, lateral position, headway distance and their SDs, and reaction time. APOE was genotyped through plasma samples. RESULTS: Mixed two-way ANOVAs examining traffic volume and APOE4 status showed a significant effect of traffic volume on all driving variables, but a significant effect of APOE4 on speed variability only. APOE4 carriers were less variable in their speed than non-carriers; this remained significant after a Bonferroni correction. To further examine variability in the driving performance, coefficients of variation (COV) were computed. Larger headway distance COV and smaller lateral position COV were observed in high compared to moderate traffic. APOE4 carriers had smaller speed COV compared to non-carriers. CONCLUSION: The lower speed variability of APOE4 carriers in the absence of neuropsychological test differences indicates reduced speed adaptations, possibly as a compensatory strategy. Simulated driving may be a sensitive method for detecting performance differences in the absence of cognitive differences.


Assuntos
Doença de Alzheimer/complicações , Doença de Alzheimer/genética , Amnésia/genética , Apolipoproteína E4/genética , Condução de Veículo , Disfunção Cognitiva/complicações , Disfunção Cognitiva/genética , Idoso , Idoso de 80 Anos ou mais , Amnésia/complicações , Apolipoproteína E4/efeitos adversos , Apolipoproteína E4/sangue , Condução de Veículo/psicologia , Cognição , Simulação por Computador , Genótipo , Humanos , Pessoa de Meia-Idade , Testes Neuropsicológicos , Tempo de Reação/genética , Fatores de Risco
18.
Compr Psychiatry ; 51(5): 546-51, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20728014

RESUMO

BACKGROUND: A wide spectrum of prodromal symptoms has been reported, but their association with the severity of the active phase psychopathology in relationship to sex is unknown. METHOD: Seventy-three (47 male) Diganostic and Statistical Manual (DSM) schizophrenia patients were subjected to the structured clinical interview for Positive and Negative Syndrome Scale (PANSS). Prodromal symptoms were recorded retrospectively after psychotic phase had subsided. RESULTS: Thirty-eight prodromal symptoms were identified. All symptoms appeared in both sexes. However, there was a significantly greater frequency of 3 symptoms (odd beliefs/magical thinking, over elaborate speech, hyperacusia) in female patients and of 2 symptoms (marked peculiar behavior, aggressiveness) in male patients. In the female patients, 9 symptoms were associated with an increased risk for severe total and components of the PANSS psychopathology in the psychotic phase; 2 symptoms were associated with a mild negative subscale psychopathology. In the male patients, 6 symptoms were associated with the severity of the PANSS psychopathology; 5 carried an increase risk for severe and 1 was associated with mild psychopathology. Also, the risk for severe PANSS positive, general, and total psychopathology increased with the increasing number of total and less specific symptoms in the female but not in the male patients. CONCLUSIONS: Sex differences in schizophrenia are extended into the prepsychotic stage. Also, the presence of certain prodromal symptoms, different in men and women, and the number of symptoms in female patients are associated with the severity of the psychotic phase psychopathology. Evaluation of early therapeutic interventions in prodromal phase should consider sex and spectrum of prodromal symptoms.


Assuntos
Esquizofrenia/diagnóstico , Psicologia do Esquizofrênico , Feminino , Grécia/epidemiologia , Humanos , Modelos Lineares , Masculino , Análise Multivariada , Estudos Prospectivos , Estudos Retrospectivos , Medição de Risco , Esquizofrenia/epidemiologia , Índice de Gravidade de Doença , Distribuição por Sexo , Fatores Sexuais
19.
Compr Psychiatry ; 51(1): 1-7, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19932819

RESUMO

BACKGROUND: Both retrospective and prospective studies have identified a broad spectrum of "prodromal" symptoms, but their relationship to those of frank psychosis remains largely unexplored. METHOD: In 73 successive hospitalized patients with schizophrenia in the first or second psychotic episode and with duration of illness 3 years or less from the onset of psychosis, Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, Axis I diagnoses were made. In addition, within the first 5 days from the psychotic episode's onset, symptom severity was assessed with the Positive and Negative Syndrome Scale (PANSS). RESULTS: Stepwise regression analyses showed that 8 prodromal symptoms carried an increased risk for high total PANSS and the components of the PANSS scores, independently of sex; 1 symptom was associated with mild psychopathology. However, the categories of negative- and positive-disorganization prodromal symptoms were not associated with the corresponding PANSS components. Similar findings were observed in the nonparanoid patients, whereas in the paranoid, only 2 nonspecific symptoms were associated with high PANSS psychopathology. In addition, there were significant associations between number of prodromal symptoms and total PANSS and the subscales positive and general scores in the patients with the nonparanoid subtypes, but there were not such associations in those with the paranoid. CONCLUSIONS: Several prodromal symptoms, as well as the number of symptoms, are associated with the severity of the psychopathology of frank psychosis. In the nonparanoid subtypes there is a continuance in the transition from the prepsychotic to the psychotic stage, whereas in the paranoid, the transition appears to be disrupted.


Assuntos
Transtornos Psicóticos/diagnóstico , Esquizofrenia/diagnóstico , Psicologia do Esquizofrênico , Índice de Gravidade de Doença , Adolescente , Adulto , Idade de Início , Análise de Variância , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Estudos Prospectivos , Escalas de Graduação Psiquiátrica , Análise de Regressão , Fatores de Risco
20.
Laterality ; 15(6): 597-609, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19626538

RESUMO

Handedness is associated with cerebral organisation, but its relationship with cognition remains unclear. Since the Stroop task is believed to measure aspects of executive control, this study aims to investigate the effect of handedness on Stroop interference. We used the Stroop task with 90 young adults with university education, of whom 47 (23 males) were right-handed and 43 (21 males) were left-handed. Main dependent variables were Stroop baseline (SB), Stroop incongruent (SI), and the proportional derivative Stroop reduction (SR) [SR=(SB - SI)/SB×100%] (Bugg, Delosh, Davalos, & Davis, 2007; Graf, Uttl, &Tuokko, 1995) scores. The analysis revealed that SI is significantly affected by both handedness and the interaction of sex×handedness, whereas SR is only affected by handedness. After controlling for the effect of SB on SI, only the effect of handedness remained statistically significant [F(1, 83) = 6.44, p=.013]. Post-hoc comparisons showed that left-handed females performed significantly better than right-handed females on both SI (p=.003) and SR (p=.007). The data suggest that handedness is associated with cognitive function alterations, which lead to a smaller Stroop interference of left-handers irrespectively of sex, an effect that is more pronounced in the female subpopulation.


Assuntos
Função Executiva/fisiologia , Lateralidade Funcional/fisiologia , Inibição Neural/fisiologia , Teste de Stroop , Adulto , Percepção de Cores/fisiologia , Feminino , Humanos , Masculino , Leitura , Caracteres Sexuais , Adulto Jovem
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