1,721,037 research outputs found
Social cognition in Juvenile Myoclonic Epilepsy
No full textOBJECTIVE:
Juvenile Myoclonic Epilepsy (JME) is a common genetic generalized epilepsy syndrome. Several studies have detailed cognitive and imaging abnormalities pointing to frontal lobe dysfunction, as well as disadvantageous behavioral traits and poor social outcome, challenging the commonly held view of JME being a benign disorder. Social cognition is the ability to elaborate mental representations of social interactions and to use them correctly in social contexts, and includes Theory of Mind (ToM), which pertains to the attribution of cognitive and affective mental states to self and others and seems to rely on complex fronto-temporal interactions. ToM has been recently assessed in focal epilepsy syndromes, but little is available for generalized epilepsies. We performed a cross-sectional study to assess social cognition, with an emphasis on ToM, as well as standard cognitive functions in patients with JME.
METHOD:
We recruited twenty JME patients and twenty matched controls. Tests used to assess social cognition and ToM included the Emotion Attribution Task, Strange Stories Task (SST), Faux Pas Task (FPT), Reading the Mind in the Eyes Task and Social Situation Task. Subjects were also assessed via an extensive neuropsychological battery.
RESULTS:
Patients exhibited worse performance in the SST and in several scores of the FPT. They also showed widespread cognitive impairment, involving executive functions, psychomotor speed, verbal and visuo-spatial memory.
CONCLUSIONS:
In addition to cognitive impairment for fronto-temporal tasks, some features of social cognition are also altered in JME. The latter deficit may underlie the poor social outcome previously described for these patients, and might also relate to imaging findings of frontal lobe dysfunction
Occurrence of seizures and EEG interictal epileptiform discharges in AD patients and their correlation with clinical features: a cross-sectional study
No full textAims: Several studies have shown that seizures and epilepsy have a higher incidence in Alzheimer’s disease (AD) than in the general population, even though with contrasting data (1), and the prevalence/ incidence of interictal epileptiform discharges (IEDs) in AD is still unclear. The aims of our study were: 1) to analyse the prevalence of seizures in a group of AD patients, 2) to investigate the prevalence/types of IEDs, 3) to assess whether IEDs/seizures occurrence correlate with any clinical features of patients. Materials: We included 167 patients with probable AD according to NIA-AA (2011), mild/moderate dementia, from a total sample (n = 245) of consecutive
demented outpatients seen at the Memory Center of the University of Pisa. Exclusion criteria where CDR>2, vascular lesions or other relevant CT/MRI lesions potentially affecting seizure threshold.In a subgroup of AD patients a further diagnosis of mixed dementia (MD) with mild-moderate vascular burden was performed by the mFazekas scale score. Detailed clinical/treatment data were collected. A validated questionnaire for anamnestic seizures screening (SQ)(2) to identify previous seizures of patients was administered to patients and caregivers;
SQ was administered also to caregivers (controls). 85 patients were randomized for standard EEG recording blindly to their SQ. Method: Cross-sectional analysis and correlation of collected data. Results: Age was 72,73 ± 6,52 y at AD onset, and 76,92 ± 6,38 y at observation; mean MMSE was 17,63 ± 6,03. 19.8% of patients had MD. A positive
SQ was found in 12,6% AD and 1,8% controls (p < 0.01). A higher prevalence of neuroleptic intake in the previous 3 months was found among patients with positive SQ than in those with no previous seizures (p = 0.009). Seizures reported were tonic-clonic generalized (52,38%), partial complex (42,86%), and simple partial ones (33,33%) (often co-existing). Seizures prevalence/types were similar in AD with and without MD. IEDs occurred in 14.12% of patient
EEG (sharp-waves: 75%; spikes: 18%; spike-waves complexes: 8%) and were mainly focal/multifocal. In patients without IEDs, cognitive impairment was higher than in those with EEG IEDs (p = 0.017). Discussion: We confi rmed AD is associated with higher risk of seizures. As seizure prevalence was similar in AD with and AD without MD we speculate that AD pathology is per se a crucial risk factor for seizures. The inverse relation between IEDs occurrence and cognitive decline might be in line with some data in AD experimental models. Conclusion: This cross-sectional study shows that AD pathology increases seizure and IEDs prevalence
The degeneration of locus coeruleus occurring during Alzheimer’s disease clinical progression: a neuroimaging follow-up investigation
No full textThe noradrenergic nucleus Locus Coeruleus (LC) is precociously involved in Alzheimer's Disease (AD) pathology, and its degeneration progresses during the course of the disease. Using Magnetic Resonance Imaging (MRI), researchers showed also in vivo in patients the disruption of LC, which can be observed both in Mild Cognitively Impaired individuals and AD demented patients. In this study, we report the results of a follow-up neuroradiological assessment, in which we evaluated the LC degeneration overtime in a group of cognitively impaired patients, submitted to MRI both at baseline and at the end of a 2.5-year follow-up. We found that a progressive LC disruption can be observed also in vivo, involving the entire nucleus and associated with clinical diagnosis. Our findings parallel neuropathological ones, which showed a continuous increase of neuronal death and volumetric atrophy within the LC with the progression of Braak's stages for neurofibrillary pathology. This supports the reliability of MRI as a tool for exploring the integrity of the central noradrenergic system in neurodegenerative disorders
Epilepsy occurrence in patients with Alzheimer's disease: clinical experience in a tertiary dementia center
No full textno abstrac
Evidence of delayed nigrostriatal dysfunction in corticobasal syndrome: aSPECT follow-up study. Parkinsonism Relat Disord.
No full textObjective: To demonstrate that degeneration of substantia nigra neurons may occur at later stages of
disease in some patients with corticobasal syndrome (CBS) who evidenced preserved nigrostriatal
pathway at a baseline FP-CIT SPECT study.
Background: Current pathological criteria for the definite diagnosis of corticobasal degeneration consider
substantia nigra cell loss as a mandatory finding. However, dopamine transporter SPECT imaging performed
in a large cohort of CBS patients showed about 10% of normal scans.
Methods: We describe 4 patients with clinical diagnosis of CBS and normal FP-CIT SPECT at baseline
whose tracer uptake resulted pathological at 1-year follow-up scan. Clinical assessment has been performed
at the time of SPECT scan. A semi-quantitative approach was performed for striatal FP-CIT
binding values.
Results: Baseline SPECT scans have been performed after 2.3 1.5 years from onset. All CBS patients
presented asymmetric rigid-akinetic parkinsonism (mean Hoehn-Yahr stage 2.5; UPDRS motor score 18)
with poor levodopa response and ideo-motor limb apraxia. At follow-up, neurological examination
revealed some additional features, including limb dystonia, language impairment, postural instability,
ocular gaze impairment, alien limb. All patients showed pathological FP-CIT uptake at the SPECT performed
10e15 months apart from the baseline scan.
Conclusions: Our longitudinal FP-CIT SPECT findings support in vivo the hypothesis that substantia nigra
neuronal loss may occur at later stages in some patients with CBS, despite early extrapyramidal
symptoms
Association study between the DNMT3A -448A>G polymorphism and risk of Alzheimer's disease in Caucasians of Italian origin
Full text linkIncreasing evidence points to an epigenetic contribution in Alzheimer's disease (AD) pathogenesis. In this regard, variants and polymorphisms of DNA methyltransferase genes (DNMTs) are being investigated for their contribution to cognitive decline and dementia, but results are still scarce or controversial. In the present study we genotyped 710 Caucasian subjects of Italian descent, including 320 late-onset AD (LOAD) patients, 70 individuals with amnestic Mild Cognitive Impairment (MCI), and 320 matched healthy controls, for the presence of a functional DNMT3A -448A>G (rs1550117) polymorphism, searching for association with disease risk. In addition, we searched for correlation between the studied polymorphism and circulating levels of folate, homocysteine (hcy) and vitamin B12, all involved in DNA methylation reactions and available from 189 LOAD patients and 186 matched controls. Both allele and genotype frequencies of rs1550117 were closely similar between MCI, LOAD and control subjects, and no association with dementia or pre-dementia conditions was observed. Plasma hcy levels were significantly higher (p = 0.04) and serum folate levels significantly lower (p = 0.01) in LOAD than in controls, but no difference in circulating folate, hcy or vitamin B12 levels was seen between carriers and non-carriers of the minor DNMT3A -448A allele. Collectively, present results confirmed previous associations of increased hcy and decreased folate with LOAD risk, but do not support an association between the DNMT3A -448A>G polymorphism and AD in our population
Evidence of delayed nigrostriatal dysfunction in corticobasal syndrome: A SPECT follow-up study
No full textOBJECTIVE:To demonstrate that degeneration of substantia nigra neurons may occur at later stages of disease in some patients with corticobasal syndrome (CBS) who evidenced preserved nigrostriatal pathway at a baseline FP-CIT SPECT study.
BACKGROUND:
Current pathological criteria for the definite diagnosis of corticobasal degeneration consider substantia nigra cell loss as a mandatory finding. However, dopamine transporter SPECT imaging performed in a large cohort of CBS patients showed about 10% of normal scans.
METHODS:
We describe 4 patients with clinical diagnosis of CBS and normal FP-CIT SPECT at baseline whose tracer uptake resulted pathological at 1-year follow-up scan. Clinical assessment has been performed at the time of SPECT scan. A semi-quantitative approach was performed for striatal FP-CIT binding values.
RESULTS:
Baseline SPECT scans have been performed after 2.3 ± 1.5 years from onset. All CBS patients presented asymmetric rigid-akinetic parkinsonism (mean Hoehn-Yahr stage 2.5; UPDRS motor score 18) with poor levodopa response and ideo-motor limb apraxia. At follow-up, neurological examination revealed some additional features, including limb dystonia, language impairment, postural instability, ocular gaze impairment, alien limb. All patients showed pathological FP-CIT uptake at the SPECT performed 10-15 months apart from the baseline scan.
CONCLUSIONS:
Our longitudinal FP-CIT SPECT findings support in vivo the hypothesis that substantia nigra neuronal loss may occur at later stages in some patients with CBS, despite early extrapyramidal symptom
Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease.
No full textPatients with Alzheimer disease (AD) often exhibit psychotic symptoms associated with cognitive impairment. A few association studies have been carried out to determine if the serotonin transporter and receptor genes are potential risk factors for AD and/or associated psychopathology. The aim of this study was to investigate the association of a serotonin transporter gene-linked polymorphic region (5-HTTLPR) and the 5-HT2A receptor T102C polymorphism with the risk of developing dementia and/or psychotic symptoms in a group of sporadic AD patients from Italy. No significant differences in the distribution of allele and genotype frequencies of 5-HTTLPR and 5-HT2A T102C were found between patient and control groups. However, a significant association between the C102/C102 5-HT2A genotype and psychotic symptoms (p < 0.001) was observed. Our data strongly confirm results from previous studies suggesting that the C102 allele of the 5-HT2A receptor is associated with the occurrence of psychotic symptoms in AD. On the contrary, the serotonin transporter does not appear to be a major susceptibility factor in the pathophysiology of the disease
The epidemiology and clinical manifestations of dysexecutive syndrome in Parkinson’s disease
Full text linkThis mini-review summarizes the evidence of the cognitive and behavioural features of dysexecutive syndrome in Parkinson’s disease (PD). Deficits in response inhibition, set-shifting, mental flexibility and strategy have been frequently described from the earliest stages of PD, although there are inconsistencies in study findings due to the complexity of the executive function (EF) construct and methodological limitations. Behavioural disorders of PD, e.g. apathy, distractibility, perseverative behaviour and impulse-control disorders, may be viewed as the other side of dysexecutive syndrome. Despite the interrelationship between the cognitive and behavioural domains, some reports reveal that the two syndromes may be dissociated, suggesting that both aspects must be clinically assessed. EFs are widely associated with the prefrontal areas, although dysexecutive syndrome may be observed in patients with damage to other brain regions. EFs drive numerous abilities essential to daily life, such as prospective remembering and language comprehension, which may be impaired in PD subjects. Considering the impact of dysexecutive syndrome on independence and quality of life, early detection of executive impairment is crucial in the management of PD
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