REM sleep behavior disorder in a patient with frontotemporal dementia

We describe a patient with frontotemporal dementia (FTD), a tauopathy, who also showed clinical and polysomnographic features of REM sleep behavior disorder (RBD). The patient is a 78-year-old male with a 1 year history of behavioral dysfunction involving emotion, character and social functioning. Brain imaging and the results of neuropsychological testing were consistent with a diagnosis of FTD. Sleep symptom onset occurred some years before the behavioral changes, and consisted of unpleasant dreams, vocalization, and prominent motor behaviors. A polysomnography confirmed the diagnosis of RBD. Our findings support the hypothesis that RBD, although more frequent in synucleinopathies, might …

High frequency of motoneuron dysfunction in FTD: a clinical and electrophysiological study

PRIMARY PROGRESSIVE CROSSED APHASIA IN A DEXTRAL WOMAN

Relationship between neurofibrillary pathology and Abeta deposition in Alzheimer’s disease.

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),…

Peripheral inflammatory priming and damage affect the fate of SOD1-mutant motoneurons and T cell recruitment.

Sleep quality in caregivers of patients with Alzheimer’s disease and Parkinson’s disease and its relationship to quality of life

ABSTRACTBackground: Knowledge about sleep complaints of caregivers of patients with Alzheimer's disease (AD) and Parkinson's disease (PD) is limited, and we lack information about the relationship between caregivers’ sleep problems and their quality of life (QoL).Methods: We evaluated subjective sleep quality and its relationship to QoL in a group of 80 caregivers of patients with AD (ADCG, n = 40) and PD (PDCG, n = 40), and in 150 controls. Information about night-time complaints was collected using the Pittsburgh Sleep Quality Index (PSQI). QoL was measured using the McGill QoL Questionnaire.Results: Eighteen ADCG (45%), 22 PDCG (55%), and 45 (30%) controls reported poor sleep quality. Me…

Haptoglobin interacts with apolipoprotein E and beta-amyloid and influences their crosstalk.

Beta-amyloid accumulation in brain is a driving force for Alzheimer's disease pathogenesis. Apolipoprotein E (ApoE) represents a critical player in beta-amyloid homeostasis, but its role in disease progression is controversial. We previously reported that the acute-phase protein haptoglobin binds ApoE and impairs its function in cholesterol homeostasis. The major aims of this study were to characterize the binding of haptoglobin to beta-amyloid, and to evaluate whether haptoglobin affects ApoE binding to beta-amyloid. Haptoglobin is here reported to form a complex with beta-amyloid as shown by immunoblotting experiments with purified proteins, or by its immunoprecipitation in brain tissues …

Recovery of aphasia: a case study with “dual” tdcs.

Objectives. In the present study we used a “dual” tDCS (Vines et al., 2008; Giglia et al., 2011) training on inferior frontal gyrus’s (IFG) areas in order to improve the linguistic performance of EBE, an Italian female, left-handed, presenting a global aphasia following a stroke of right middle cerebral artery. Materials. For the picture naming task, 20 object and 20 action images, selected from a set of picture standardized for frequency, were presented on a paper sheet one at time. Method. Stimulation was used at 1mA for 15 minutes. Dual tDCS was given over both IFGs, cathode in the right (damaged areas) and anode in the left (preserved areas) daily for two weeks (weekend-free). The posit…

Progressive visuospatial dysfunction as a clinical entity.

Radiomics Analysis of Brain [18F]FDG PET/CT to Predict Alzheimer’s Disease in Patients with Amyloid PET Positivity: A Preliminary Report on the Application of SPM Cortical Segmentation, Pyradiomics and Machine-Learning Analysis

Background: Early in-vivo diagnosis of Alzheimer’s disease (AD) is crucial for accurate management of patients, in particular, to select subjects with mild cognitive impairment (MCI) that may evolve into AD, and to define other types of MCI non-AD patients. The application of artificial intelligence to functional brain [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography(CT) aiming to increase diagnostic accuracy in the diagnosis of AD is still undetermined. In this field, we propose a radiomics analysis on advanced imaging segmentation method Statistical Parametric Mapping (SPM)-based completed with a Machine-Learning (ML) application to predict the diagnosi…

Acute reversible parkinsonism in a diabetic-uremic patient.

Acute movement disorders with basal ganglia lesions have been recently described in diabetic-uremic patients of Asian descent. The process is often reversible, with a favourable clinical outcome. Metabolic (i.e. uremic toxins) and microangiopathic changes have been suggested to be involved in its pathophysiology, even though racial and/or genetic factors might play a role too. In this report, we present a Caucasian diabetic patient with a long-lasting mild uremia in which acute parkinsonism occurred after a steep and unexpected increase of the serum creatinine. The follow-up demonstrated a significant improvement of the neurological signs and symptoms, the creatinine level lowered close to …

SCA17 AS CAUSE OF EARLY-ONSET DEMENTIA IN SOUTHERN ITALY: REPORT OF A NEW FAMILY

Identification of a novel omozigosi mutation in the sil 1 gene in Marinesco Siogrene Syndrome.

Peripheral inflammatory priming affects the vulnerability of SOD1-mutant motor neurons

Lipofuscin Hypothesis of Alzheimer’s Disease

The primary culprit responsible for Alzheimer’s disease (AD) remains unknown. Aβ protein has been identified as the main component of amyloid of senile plaques, the hallmark lesion of AD, but it is not definitively established whether the formation of extracellular Aβ deposits is the absolute harbinger of the series of pathological events that hit the brain in the course of sporadic AD. The aim of this paper is to draw attention to a relatively overlooked age-related product, lipofuscin, and advance the hypothesis that its release into the extracellular space following the death of neurons may substantially contribute to the formation of senile plaques. The presence of intraneuronal Aβ, sim…

Tumor Diagnosis Preceding Alzheimer's Disease Onset: Is There a Link Between Cancer and Alzheimer's Disease?

Studies reporting an inverse association between Alzheimer's disease (AD) and cancer are scant. Available data are mostly based on ancillary findings of mortality data or obtained from studies evaluating frequency of neoplasms in AD patients independently if they occurred before or after AD. Moreover, some studies estimated frequencies of neoplasms in demented individuals, who were not necessarily AD patients. We estimated frequency of tumors preceding the onset of AD in AD patients and compared it to that of age- and gender-matched AD-free individuals. Occurrence of tumors preceding AD onset was assessed through a semi-structured questionnaire. Tumors were categorized as benign, malignant,…

Quetiapine dose-sparing effect with addiction of memantine: two cases report of Lewy Body disease and dementia associated with Parkinson’s disease

Isolate progressive visuospatial dysfunction: a new form of MCI?

IDENTIFICATION OF A NOVEL COMPOUND HETEROZYGOUS MUTATION OF SPG11 IN A PATIENT AFFECTED BY HSPWITH THIN CORPUS CALLOSUM

P3–200: Relationship between neurofibrillary pathology and Aβ deposition in Alzheimer disease

The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey

IntroductionPrevious studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine.MethodsThe study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after …

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

International audience; We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68…

NEUROPHYSIOLOGIC AND CLINICAL SIGNS OF MOTONEURONAL DEGENERATION IN FRONTOTEMPORAL DEMENTIA

ACUTE REVERSIBLE PARKINSONISM IN A DIABETIC UREMIC PATIENT

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP

Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. Design Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic examination was performed in 2 subjects. Setting Southern Lombardy, Italy. Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37). Main Outcome Measure Genotype-phenotype relationship. Results The affected individuals presented with recurrent headach…

Neocortical Variation of Abeta Load in Fully Expressed, Pure Alzheimer's Disease

The relationship between amyloid-beta (A beta) deposition and tau-related neurofibrillary changes is a key issue in the pathogenesis of Alzheimer's disease (AD). The aim of this study was to investigate the extent and cortical distribution of A beta and tau pathology, their mutual links and their correlation with the duration of the disease in thirty-nine patients with fully expressed AD. By tau immunohistochemistry, we identified different patterns of distribution of neurofibrillary changes that were ascribed to Braak stage V and VI. The disease duration was longer in patients at Braak stage VI than in those at V. Morphometric analysis carried out in several neocortical areas demonstrated …

P3‐214: Identification of three novel progranulin mutations in a series of patients affected by sporadic and familial frontotemporal lobar degeneration

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. The objective of this study was to reconstruct the pedigree of Italian dentatorubral-pallidoluysian atrophy familial cases describing their clinical features. METHODS: We investigated 6 apparently unrelated dentatorubral-pallidoluysian atrophy families comprising a total of 51 affected individuals: 13 patients were clinically examined, and for 38 patients clinical data were collected from clinical sources. The dentatorubral-pallidoluysian atrophy diagnosis was genetically confirmed in 18 patients. Genealogical data from historical archives were ana…

Physical exercise and anabolic steroids affect the spinal pathological features of SOD1(G93A) mice