Search results for " DEMENTIA"

Frequency and caregiver’s burden of frontotemporal dementia in ALS patients and their caregivers

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

2010

Summary Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein ( VCP ) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on…

Pure Progressive Amnesia and the APPV717G Mutation

2009

We report an isolated, slowly progressive, pure amnestic phenotype in a 59-year-old member of a family affected by autosomal dominant familial Alzheimer disease. Early-onset Alzheimer disease in this family was associated with a V717G mutation in the amyloid precursor protein gene (APP). Subjective impairment of episodic memory began in our subject at the age of 44 years and subsequent, longitudinal neuropsychologic assessment confirmed progressive, severe, global impairment of memory functions over a period of 14 years with preservation of other cognitive domains. The mean annual hippocampal atrophy rate, determined by volumetric magnetic resonance imaging was intermediate between values p…

Taking both sides: do unilateral anterior temporal lobe lesions disrupt semantic memory?

2010

The most selective disorder of central conceptual knowledge arises in semantic dementia, a degenerative condition associated with bilateral atrophy of the inferior and polar regions of the temporal lobes. Likewise, semantic impairment in both herpes simplex virus encephalitis and Alzheimer's disease is typically associated with bilateral, anterior temporal pathology. These findings suggest that conceptual representations are supported via an interconnected, bilateral, anterior temporal network and that it may take damage to both sides to produce an unequivocal deficit of central semantic memory. We tested and supported this hypothesis by investigating a case series of 20 patients with unila…

Does angioedema influence the quality of life in patients with chronic spontaneous urticaria?

2019

Moral reasoning and moral conflict in patients of the amyotrophic lateral sclerosis – Frontotemporal dementia spectrum

2020

The aim of this study was to investigate the moral reasoning and moral conflict in patients of the amyotrophic lateral sclerosis – frontotemporal dementia (ALSFTD) spectrum. Ten ALS patients without cognitive impairment, 10 ALS patients with cognitive or behavioral impairment, 10 ALSFTD patients and 23 controls were examined with neuropsychological and behavioral tests as well as with a set of eight well -designed moral dilemmas. The responses to the moral dilemmas were used as proxies to evaluate interpersonal moral reasoning. Reactivity to change, reaction time and arousal were used as markers of moral conflict. ALSFTD patients showed more “utilitarian” responses and less moral conflict t…

Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients.

2003

Experimental and clinical studies give evidence for breakdown of membrane phospholipids during neurodegeneration. In the present study, we measured the levels of glycerophosphocholine (GPCh), phosphocholine (PCh), and choline, that is, water-soluble metabolites of phosphatidylcholine (PtdCho), in human cerebrospinal fluid (CSF). Among 30 cognitively normal patients the average CSF levels of GPCh, phosphocholine and choline were 3.64, 1.28, and 1.93 microM, respectively; metabolite levels did not change with increasing age. When compared with age-matched controls, patients with Alzheimer's disease had elevated levels of all choline metabolites: GPCh was significantly increased by 76% (P<0.01…

Cerebral Microbleeds and Long-Term Cognitive Outcome: Longitudinal Cohort Study of Stroke Clinic Patients

2012

&lt;i&gt;Background:&lt;/i&gt; Vascular cognitive impairment causes significant disability in the elderly and is common following ischaemic stroke. Although the underlying mechanisms and prognostic factors remain unclear, small vessel diseases are known to contribute. Cerebral microbleeds (CMBs) are a magnetic resonance imaging (MRI) manifestation of small vessel diseases and may contribute to vascular cognitive impairment, particularly frontal-executive functions. We hypothesized that baseline CMBs would predict long-term cognitive outcome, specifically frontal-executive function. &lt;i&gt;Methods:&lt;/i&gt; A cohort of consecutive patients found to have CMBs when first referred to a strok…

The Effects of COVID-19 lockdown on neuropsychiatric symptoms in patients with dementia or mild cognitive impairment: A systematic review and meta-an…

2022

The COVID-19 pandemic may have a disproportionate impact on people with dementia/mild cognitive impairment (MCI) due to isolation and loss of services. The aim of this systematic review was to investigate the effects of the COVID-19 lockdown on neuropsychiatric symptoms (NPS) in people living with dementia/MCI. Two authors searched major electronic databases from inception to June 2021 for observational studies investigating COVID-19 and NPS in people with dementia/MCI. Summary estimates of mean differences in NPS scores pre- versus post-COVID-19 were calculated using a random-effects model, weighting cases using inverse variance. Study quality and risk of bias were assessed by the Newcastl…

Prevalence and features of delirium in older patients admitted to rehabilitation facilities

2022

Background: Delirium is thought to be common across various settings of care; however, still little research has been conducted in rehabilitation. Aim: We investigated the prevalence of delirium, its features and motor subtypes in older patients admitted to rehabilitation facilities during the three editions of the “Delirium Day project”. Methods: We conducted a cross-sectional study in which 1237 older patients (age ≥ 65 years old) admitted to 50 Italian rehabilitation wards during the three editions of the “Delirium Day project” (2015 to 2017) were included. Delirium was evaluated through the 4AT and its motor subtype with the Delirium Motor Subtype Scale. Results: Delirium was detected i…