118 research outputs found
The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey
The impact of COVID-19 quarantine on patients with dementia and family caregivers: a nation-wide survey.
Quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of
caregivers’ burden. These findings emphasize the importance to implement new strategies to mitigate the effects of quarantine in patients with dementia
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation
Objective
To describe the clinical and pathologic features of a novel pedigree with heterozygous STUB1
mutation causing SCA48.
Methods
We report a large pedigree of Dutch decent. Clinical and pathologic data were reviewed, and
genetic analyses (whole-exome sequencing, whole-genome sequencing, and linkage analysis)
were performed on multiple family members.
Results
Patients presented with adult-onset gait disturbance (ataxia or parkinsonism), combined with
prominent cognitive decline and behavioral changes. Whole-exome sequencing identified
a novel heterozygous frameshift variant c.731_732delGC (p.C244Yfs*24) in STUB1 segregating with the disease. This variant was present in a linkage peak on chromosome 16p13.3.
Neuropathologic examination of 3 cases revealed a consistent pattern of ubiquitin/p62-positive
neuronal inclusions in the cerebellum, neocortex, and brainstem. In addition, tau pathology was
present in 1 case.
Conclusions
This study confirms previous findings of heterozygous STUB1 mutations as the cause of SCA48
and highlights its prominent cognitive involvement, besides cerebellar ataxia and movement
disorders as cardinal features. The presence of intranuclear inclusions is a pathologic hallmark
of the disease. Future studies will provide more insight into its pathologic heterogeneity
Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia
Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia
Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver\u2019s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients\u2019 gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12\u20131.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66\u20137.64) and sleep disorder (OR 1.69, CI 1.25\u20132.29), FTD with wandering (OR 1.62, CI 1.12\u20132.35), and change of appetite (OR 1.52, CI 1.03\u20132.25). Stress-related symptoms were experienced by two-thirds of caregivers and were associated with increased patients\u2019 neuropsychiatric burden (p<0.0001). Conclusion: Quarantine induces a rapid increase of BPSD in approximately 60% of patients and stress-related symptoms in two-thirds of caregivers. Health services need to plan a post-pandemic strategy in order to address these emerging needs
Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes
Genetic risk for neurodegenerative disorders, and its overlap with cognitive ability and physical function
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia
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