60 research outputs found
Challenging the "chromatin hypothesis" of cardiac laminopathies with LMNA mutant iPS cells
No full textLamins A and C are intermediate filaments that provide structural support to the nuclear envelope and regulate gene expression. In this issue, Bertero et al. (2019. J. Cell Biol. https://doi.org/10.1083/jcb.201902117) report that although lamin A/C haploinsufficient cardiomyocytes show disease-associated phenotypes, those changes cannot be explained by alterations in chromatin compartmentalization
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease (Apr, 10.1007/s10072-021-05264-5, 2021)
No full textA Correction to this paper has been published
Episodic Memory in Amnestic Behavioral Frontotemporal Dementia and Alzheimer's Disease
No full textBehavioral frontotemporal dementia (bvFTD) may present with episodic memory deficits. In 38 patients with bvFTD and 61 with Alzheimer's disease (AD) specific measures of verbal memory (learning curves and serial position effects) were studied through the Rey Auditory Verbal Learning test. Forty-two percent of bvFTD showed deficits of delayed recall memory similar to that found in AD including the serial position effects. Amnestic bvFTD had more severe atrophy in the left mesial temporal lobe than non-amnestic bvFTD. AD-like memory deficits are not infrequent in bvFTD and may be in part related to mesial temporal lobe atrophy
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease
No full textImpact of Lewy bodies disease on visual skills and memory abilities: from prodromal stages to dementia
No full textDementia with Lewy bodies (DLB) and its prodromal presentation with mild cognitive impairment is characterized by prominent deficits in attention/executive domains and in visual processing abilities with relative sparing of memory. Neuropsychological research is continuously refining the tools to define more in detail the patterns of relatively preserved and impaired cognitive abilities that help differential diagnosis between DLB and Alzheimer disease (AD). This review summarizes the main studies exploring specific cognitive tasks investigating different visual processing abilities and verbal memory that better differentiate DLB from AD. The findings provide evidence that substantial impairments in visual-spatial and visual-constructional abilities and relatively better performance on memory tasks that depend on hippocampal function characterize the prodromal stage of DLB. The ability to detect early indicators of prodromal DLB through clinical and cognitive assessments is the first step to guide instrumental diagnostic work-ups and provide the opportunity for early intervention
Correction to: Frontotemporal dementia phenotype in late-onset Huntington disease without chorea (Neurological Sciences, (2023), 44, 9, (3327-3329), 10.1007/s10072-023-06823-8)
No full textThe original article contains an inverted names. Family names was captured first instead of given names. This has been updated here. The original article has been corrected
Metabolic connectivity alterations of dorsal attention, ventral attention and limbic networks are associated with visual hallucinations in Lewy Body Dementia (DLB): a FDG-PET/MRI study
No full textSelective control of Pax7 expression by TNF-activated p38α/polycomb repressive complex 2 (PRC2) signaling during muscle satellite cell differentiation.
No full textDepression, Anxiety and Sleep Alterations in Caregivers of Persons With Dementia After 1-Year of COVID-19 Pandemic
No full textBackground: Social isolation due to COVID-19 pandemic has an important psychological impact particularly in persons with dementia and their informal caregivers. Aim: To assess frequency and severity of long-term stress-related symptoms in caregivers of patients with dementia 1-year after the beginning of COVID-19 pandemic and to identify predictors of psychological outcomes. Methods: Eighty-five caregivers were involved in a longitudinal study with 1-year follow-up during pandemic in Italy. At baseline in April 2020 a telephone interview assessed socio-demographic characteristics of caregivers and self-perception of distress symptoms. After 1 year, between March and April 2021, the same standardized interview was delivered to the caregivers' sample. In addition, scales assessing levels of depression and anxiety (DASS-21), sleep disturbances (PSQI) and coping strategies (COPE-NVI) were administered to the caregivers and to 50 age and sex-matched non-caregivers subjects. Linear regression analysis was performed to investigate the power of baseline variables to predict long-term psychological outcomes. Results: After 1 year of pandemic frequency of caregivers' stress-related symptoms increased respect to baseline: depression (60 vs. 5, 9%; p < 0.001), anxiety (45, 9 vs. 29, 4%; p = 0.035), irritability (49, 4 vs. 24, 7%; p < 0.001), and anguish (31, 7 vs. 10, 6%; p < 0.001). Frequency of severe depression was higher in caregivers than in non-caregivers (p = 0.002) although mean levels of depression were comparable in the two groups. Long-term higher depression was predicted by a model built on baseline information (r2 = 0.53, p < 0.001) where being female (t = −3.61, p < 0.001), having lower education (t = −2.15, p = 0.04), presence of feelings of overwhelm (t = 2.29, p = 0.02) and isolation (t = 2.12, p = 0.04) were significant predictors. Female sex was also predictive of anxiety (t = −2.7, p = 0.01) and poor sleep quality (t = −2.17, p = 0.03). Discussion: At 1 year follow-up caregivers of patients with dementia reported higher prevalence of all stress-related symptoms respect to the acute phase of lockdown, particularly depression. Long-lasting stressful conditions may cause exhaustion of resilience factors and increased depression. Planning interventions should support caregivers to enable them to continue with their role during pandemic
Brainstem glucose hypermetabolism in ALS/FTD and shorten survival: a 18F-FDG PET/MR study
No full textIntroduction: A few 18F-FDG (FDG) PET-CT studies revealed the presence of brain hypermetabolism in the brainstem and cervical spinal cord of patients within the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia (ALS/FTD) spectrum. We aim to investigate this finding through a hybrid PET-MR system, allowing a more precise spatial pattern of metabolic changes in the brainstem and cervical spinal cord. Methods: Twenty-eight patients with a diagnosis of ALS or behavioural variant FTD plus motoneuron disease and 13 healthy subjects underwent 18F-FDG PET-MR study. Mean normalized FDG uptake values in the midbrain/pons, medulla oblongata, and cervical spinal cord defined on individual's MR scans were compared between groups. Furthermore, the associations between regional FDG uptake values and clinical and demographic characteristics, including gene mutation, type of onset (bulbar, spinal, dementia), and clinical characteristics were investigated. Results: A significant (P < 0.005) increment in glucose metabolism in the midbrain/pons and medulla oblongata was found in ALS/FTD patients in comparison to controls, independent from the type of disease onset. No relevant associations between clinical and metabolic features were reported, although medulla oblongata hypermetabolism was associated with shortened survival (P < 0.001). Conclusion: Increased glucose metabolism in the brainstem might be due to the local activation of astrocytes. FDG PET/MR could be a valuable tool to assess glial changes in the ALS/FTD spectrum and could serve as a prognostic biomarker. Large prospective initiatives would likely shed more light on the promising application of PET/MR in this setting
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