10,604 results match your criteria Frontotemporal Lobe Dementia

Genetic landscape of early-onset dementia in Hungary.

Neurol Sci 2022 Jun 25. Epub 2022 Jun 25.

Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1082, Budapest, Hungary.

Introduction: Early-onset dementias (EOD) are predominantly genetically determined, but the underlying disease-causing alterations are often unknown. The most frequent forms of EODs are early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD).

Patients: This study included 120 Hungarian patients with EOD (48 familial and 72 sporadic) which had a diagnosis of EOAD (n = 49), FTD (n = 49), or atypical dementia (n = 22). Read More

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Does epilepsy contribute to the clinical phenotype of C9orf72 mutation in fronto-temporal dementia?

Epilepsy Behav 2022 Jun 22;133:108783. Epub 2022 Jun 22.

Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, Cagliari, Italy; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

C9orf72 mutation is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. Recently, several reports of patients with FTD who carried the C9orf72 mutation and also manifested epilepsy have been published, since seizures occur in FTD at a higher rate than in the general population, the possible association between epilepsy and C9orf72 mutation remains to be clarified. In the attempt to understand whether epilepsy contributes to the phenotype of the C9orf72 mutation, we compared epilepsy occurrence in patients with FTD who carried the C9orf72 mutation and those who did not. Read More

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Functional connectivity correlates of reduced goal-directed behaviors in behavioural variant frontotemporal dementia.

Brain Struct Funct 2022 Jun 25. Epub 2022 Jun 25.

Inserm U 1127, CNRS UMR 7225, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, 47 Boulevard de l'Hôpital, 75013, Paris, France.

We explored the resting state functional connectivity correlates of apathy assessed as a multidimensional construct, using behavioral metrics, in behavioral variant frontotemporal dementia (bvFTD). We recorded the behavior of 20 bvFTD patients and 16 healthy controls in a close-to-real-life situation including a free phase (FP-in which actions were self-initiated) and a guided phase (GP-in which initiation of actions was facilitated by external guidance). We investigated the activity time and walking episode features as quantifiers of apathy. Read More

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CRISPR/Cas9-Mediated Constitutive Loss of VCP (Valosin-Containing Protein) Impairs Proteostasis and Leads to Defective Striated Muscle Structure and Function In Vivo.

Int J Mol Sci 2022 Jun 16;23(12). Epub 2022 Jun 16.

Molecular Cardiology, Department of Internal Medicine II, University of Ulm, Albert-Einstein-Allee 23, 89081 Ulm, Germany.

Valosin-containing protein (VCP) acts as a key regulator of cellular protein homeostasis by coordinating protein turnover and quality control. Mutations in VCP lead to (cardio-)myopathy and neurodegenerative diseases such as inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) or amyotrophic lateral sclerosis (ALS). To date, due to embryonic lethality, no constitutive VCP knockout animal model exists. Read More

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Differentially Expressed miRNAs in Age-Related Neurodegenerative Diseases: A Meta-Analysis.

Genes (Basel) 2022 Jun 9;13(6). Epub 2022 Jun 9.

Department of (Neuro)Pathology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, 1105 AZ Amsterdam, The Netherlands.

To date, no neurodegenerative diseases (NDDs) have cures, and the underlying mechanism of their pathogenesis is undetermined. As miRNAs extensively regulate all biological processes and are crucial regulators of healthy brain function, miRNAs differentially expressed in NDDs may provide insight into the factors that contribute to the emergence of protein inclusions and the propagation of deleterious cellular environments. A meta-analysis of miRNAs dysregulated in Alzheimer's disease, Parkinson's disease, multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration, dementia with Lewy bodies and frontotemporal lobar degeneration (TDP43 variant) was performed to determine if diseases within a proteinopathy have distinct or shared mechanisms of action leading to neuronal death, and if proteinopathies can be classified on the basis of their miRNA profiles. Read More

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Multisystem Proteinopathy Due to Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Genes (Basel) 2022 May 27;13(6). Epub 2022 May 27.

Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine Medical Center, Orange, CA 92868, USA.

In this work, we review clinical features and genetic diagnosis of diseases caused by mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally diverse AAA-ATPase. VCP is crucial to a multitude of cellular functions including protein quality control, stress granule formation and clearance, and genomic integrity functions, among others. Pathogenic mutations in cause multisystem proteinopathy (VCP-MSP), an autosomal dominant, adult-onset disorder causing dysfunction in several tissue types. Read More

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MicroRNA Networks in Cognition and Dementia.

Cells 2022 Jun 9;11(12). Epub 2022 Jun 9.

Department of Chemistry, Georgia Southern University, Statesboro, GA 30460, USA.

The change from viewing noncoding RNA as "junk" in the genome to seeing it as a critical epigenetic regulator in almost every human condition or disease has forced a paradigm shift in biomedical and clinical research. Small and long noncoding RNA transcripts are now routinely evaluated as putative diagnostic or therapeutic agents. A prominent role for noncoding microRNAs in the central nervous system has uncovered promising new clinical candidates for dementia-related disorders, treatments for which currently remain elusive even as the percentage of diagnosed patients increases significantly. Read More

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[Genetics of frontotemporal dementia].

Y A L Pijnenburg

Tijdschr Psychiatr 2022 ;64(5):306-311

Background: Frontotemporal dementia (FTD) is a neurodegenerative disorder leading to dementia. Because of predominant behavioural and emotional features it often presents to the psychiatrist. AIM: Provide an overview of the genetic background of FTD with recommendations for the clinician. Read More

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Tau Aggregation Inducer Molecules Influence the Effects of Mutations on Aggregation Dynamics.

Biochemistry 2022 Jun 22. Epub 2022 Jun 22.

Department of Molecular Biosciences, University of Kansas, Lawrence, Kansas, 66045, United States.

Alzheimer's disease (AD) and Alzheimer's disease-related dementias (ADRDs) affect 6 million Americans, and they are projected to have an estimated health care cost of $355 billion for 2021. A histopathological hallmark of AD and many ADRDs is the aberrant intracellular accumulation of the microtubule-associated protein tau. These neurodegenerative disorders that contain tau aggregates are collectively known as tauopathies, and recent structural studies have shown that different tauopathies are characterized by different "strains" of tau filaments. Read More

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Right temporal lobe and socioemotional semantics: semantic behavioural variant frontotemporal dementia.

Brain 2022 Jun 22. Epub 2022 Jun 22.

Memory and Aging Center, Department of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA 94158, USA.

Focal anterior temporal lobe (ATL) degeneration often preferentially affects the left or right hemisphere. While patients with left-predominant ATL (lATL) atrophy show severe anomia and verbal semantic deficits and meet criteria for semantic variant primary progressive aphasia (svPPA) and semantic dementia, patients with early right ATL (rATL) atrophy are more difficult to diagnose as their symptoms are less well understood. Focal rATL atrophy is associated with prominent emotional and behavioral changes, and patients often meet, or go on to meet, criteria for behavioral variant frontotemporal dementia (bvFTD). Read More

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Functional changes in brain oscillations in dementia: a review.

Rev Neurosci 2022 Jun 21. Epub 2022 Jun 21.

IRCCS San Camillo Hospital, via Alberoni 70, 30126 Venice, Italy.

A growing body of evidence indicates that several characteristics of electroencephalography (EEG) and magnetoencephalography (MEG) play a functional role in cognition and could be linked to the progression of cognitive decline in some neurological diseases such as dementia. The present paper reviews previous studies investigating changes in brain oscillations associated to the most common types of dementia, namely Alzheimer's disease (AD), frontotemporal degeneration (FTD), and vascular dementia (VaD), with the aim of identifying pathology-specific patterns of alterations and supporting differential diagnosis in clinical practice. The included studies analysed changes in frequency power, functional connectivity, and event-related potentials, as well as the relationship between electrophysiological changes and cognitive deficits. Read More

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How gender matters in demanding caring for a spouse with young-onset dementia. A narrative study.

J Women Aging 2022 Jun 19:1-17. Epub 2022 Jun 19.

Vestfold Hospital Trust, The Norwegian National Centre for Ageing and Health, Tønsberg, Norway.

Background: The gendered aspects of extraordinary demanding spousal caring for people with young-onset dementia have been scarcely researched.

Aim: To analyze spouses' experiences of the meaning, content, and effort of intensive caring for spouses/partners with young-onset frontotemporal dementia (YO-FTD), concentrating on a female perspective.

Method: A qualitative Norwegian study using narrative interviews with 10 wives and 6 husbands were conducted in 2014 and 2015. Read More

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12-item version of Boston Naming Test: usefulness in the diagnosis of primary progressive aphasia, frontotemporal dementia, and Alzheimer's disease.

Dement Neuropsychol 2022 Apr-Jun;16(2):181-186. Epub 2022 Apr 29.

Unidad Asistencial Dr César Milstein, Department of Neurology - Buenos Aires, Argentina.

The 12-item version of the Boston Naming Test (BNT) was adapted to Argentina for the detection of dementia due to Alzheimer's disease (AD), with scores similar to the original 60-item version (sensitivity and specificity of 85 and 94%, respectively) without demographic influence (age and educational level). To date, no publications on the use of abbreviated BNT in other degenerative pathologies with language impairment have been reported.

Objective: The objective of this study was to evaluate the usefulness of 12-item BNT in primary progressive aphasia (PPA), the behavioral variant of frontotemporal dementia (FTDbv), and AD. Read More

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Mice expressing P301S mutant human tau have deficits in interval timing.

Behav Brain Res 2022 Jun 17;432:113967. Epub 2022 Jun 17.

Department of Neurology, University of Iowa, United States of America.

Interval timing is a key executive process that involves estimating the duration of an interval over several seconds or minutes. Patients with Alzheimer's disease (AD) have deficits in interval timing. Since temporal control of action is highly conserved across mammalian species, studying interval timing tasks in animal AD models may be relevant to human disease. Read More

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FUS aggregation following ischemic stroke favors brain astrocyte activation through inducing excessive autophagy.

Exp Neurol 2022 Jun 16;355:114144. Epub 2022 Jun 16.

Department of Laboratory Medicine, Affiliated Hospital of Yangzhou University, Yangzhou, Jiangsu, China. Electronic address:

As is the case with neurodegenerative diseases, abnormal accumulation of aggregated proteins in neurons and glial are also known to implicate in the pathogenesis of ischemic stroke. However, the potential role of protein aggregates in brain ischemia remains largely unknown. Fused in Sarcoma (FUS) protein has a vital role in RNA metabolism and regulating cellular homeostasis. Read More

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In vivo hypothalamic regional volumetry across the frontotemporal dementia spectrum.

Neuroimage Clin 2022 Jun 14;35:103084. Epub 2022 Jun 14.

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, UK. Electronic address:

Background: Frontotemporal dementia (FTD) is a spectrum of diseases characterised by language, behavioural and motor symptoms. Among the different subcortical regions implicated in the FTD symptomatology, the hypothalamus regulates various bodily functions, including eating behaviours which are commonly present across the FTD spectrum. The pattern of specific hypothalamic involvement across the clinical, pathological, and genetic forms of FTD has yet to be fully investigated, and its possible associations with abnormal eating behaviours have yet to be fully explored. Read More

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Artificial Intelligence on FDG PET Images Identifies Mild Cognitive Impairment Patients with Neurodegenerative Disease.

J Med Syst 2022 Jun 17;46(8):52. Epub 2022 Jun 17.

Biomedical Imaging Research Group (GIBI230), La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell, 46026, Valencia, Spain.

The purpose of this project is to develop and validate a Deep Learning (DL) FDG PET imaging algorithm able to identify patients with any neurodegenerative diseases (Alzheimer's Disease (AD), Frontotemporal Degeneration (FTD) or Dementia with Lewy Bodies (DLB)) among patients with Mild Cognitive Impairment (MCI). A 3D Convolutional neural network was trained using images from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database. The ADNI dataset used for the model training and testing consisted of 822 subjects (472 AD and 350 MCI). Read More

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ALS/FTD: Evolution, Aging, and Cellular Metabolic Exhaustion.

Front Neurol 2022 27;13:890203. Epub 2022 May 27.

Division of Neurology, Department of Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.

Amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) are neurodegenerations with evolutionary underpinnings, expansive clinical presentations, and multiple genetic risk factors involving a complex network of pathways. This perspective considers the complex cellular pathology of aging motoneuronal and frontal/prefrontal cortical networks in the context of evolutionary, clinical, and biochemical features of the disease. We emphasize the importance of evolution in the development of the higher cortical function, within the influence of increasing lifespan. Read More

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Proximity-based labeling reveals DNA damage-induced phosphorylation of fused in sarcoma (FUS) causes distinct changes in the FUS protein interactome.

J Biol Chem 2022 Jun 13:102135. Epub 2022 Jun 13.

Department of Pharmacology and Chemical Biology,Emory University, School of Medicine, Atlanta, GA; Center for Neurodegenerative Disease, Emory University, School of Medicine, Atlanta, GA; Department of Neurology, Emory University, School of Medicine, Atlanta, GA. Electronic address:

Accumulation of cytoplasmic inclusions containing fused in sarcoma (FUS), an RNA/DNA binding protein, is a common hallmark of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) neuropathology. We have previously shown that DNA damage can trigger the cytoplasmic accumulation of N-terminally phosphorylated FUS. However, the functional consequences of N-terminal FUS phosphorylation are unknown. Read More

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Plasma Oxytocin Is Not Associated with Social Cognition or Behavior in Frontotemporal Dementia and Alzheimer's Disease Syndromes.

Dement Geriatr Cogn Disord 2022 Jun 15:1-8. Epub 2022 Jun 15.

School of Psychology, The University of Sydney, Sydney, New South Wales, Australia.

Introduction: Changes in social behavior and emotion processing are common in frontotemporal dementia (FTD) and semantic dementia (SD), and less so in Alzheimer's disease (AD). Recent research has investigated oxytocin as a potential treatment for these symptoms; however, whether plasma oxytocin is associated with social-emotional symptoms of dementia remains underexplored.

Methods: Thirty behavioral-variant FTD (bvFTD), 28 SD, 39 AD, and 24 controls underwent blood sampling to measure oxytocin. Read More

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A verb-naming test accurately detects cognitive changes in ALS.

Amyotroph Lateral Scler Frontotemporal Degener 2022 Jun 15:1-4. Epub 2022 Jun 15.

Department of Psychology, University of Milano-Bicocca, Milan, Italy, and.

Verb-naming tests were proposed for detecting cognitive impairment in ALS, although statistical evidence on their clinical usefulness is still lacking. A total of 29 ALS patients and 29 demographic-matched healthy controls (HCs) were administered the Action-Verb-Naming Test (AVNT), a standardized picture-naming task of actions. Patients were also administered the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), and classified according to Strong et al. Read More

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An ecological approach to identify distinct neural correlates of disinhibition in frontotemporal dementia.

Neuroimage Clin 2022 Jun 7;35:103079. Epub 2022 Jun 7.

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Paris, France; AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Neurology, IM2A, Paris, France. Electronic address:

Disinhibition is a core symptom of many neurodegenerative diseases, particularly frontotemporal dementia, and is a major cause of stress for caregivers. While a distinction between behavioural and cognitive disinhibition is common, an operational definition of behavioural disinhibition is still missing. Furthermore, conventional assessment of behavioural disinhibition, based on questionnaires completed by the caregivers, often lacks ecological validity. Read More

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Communication Bridge™-2 (CB2): an NIH Stage 2 randomized control trial of a speech-language intervention for communication impairments in individuals with mild to moderate primary progressive aphasia.

Trials 2022 Jun 13;23(1):487. Epub 2022 Jun 13.

Mesulam Center for Alzheimer's Disease and Cognitive Neurology and Department of Psychiatry and Behavioral Sciences, Northwestern University, Chicago, USA.

Background: Primary progressive aphasia (PPA) is a clinical dementia syndrome. Impairments in language (speaking, reading, writing, and understanding) are the primary and persistent symptoms. These impairments progress insidiously and devastate communication confidence, participation, and quality of life for persons living with PPA. Read More

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Frequency of LATE neuropathologic change across the spectrum of Alzheimer's disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts.

Acta Neuropathol 2022 Jul 13;144(1):27-44. Epub 2022 Jun 13.

University of Sao Paulo Medical School, Sao Paulo, Brazil.

Limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) and Alzheimer's disease neuropathologic change (ADNC) are each associated with substantial cognitive impairment in aging populations. However, the prevalence of LATE-NC across the full range of ADNC remains uncertain. To address this knowledge gap, neuropathologic, genetic, and clinical data were compiled from 13 high-quality community- and population-based longitudinal studies. Read More

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Targeting ER-Mitochondria Signaling as a Therapeutic Target for Frontotemporal Dementia and Related Amyotrophic Lateral Sclerosis.

Front Cell Dev Biol 2022 27;10:915931. Epub 2022 May 27.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are two major neurodegenerative diseases. FTD is the second most common cause of dementia and ALS is the most common form of motor neuron disease. These diseases are now known to be linked. Read More

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Physical Activity Rewires the Human Brain against Neurodegeneration.

Int J Mol Sci 2022 Jun 2;23(11). Epub 2022 Jun 2.

Center for Neurodegenerative Diseases and Therapeutics, Cellular and Molecular Pharmacology Department, The Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, IL 60064, USA.

Physical activity may offset cognitive decline and dementia, but the molecular mechanisms by which it promotes neuroprotection remain elusive. In the absence of disease-modifying therapies, understanding the molecular effects of physical activity in the brain may be useful for identifying novel targets for disease management. Here we employed several bioinformatic methods to dissect the molecular underpinnings of physical activity in brain health. Read More

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Neuropathology of Dementia Disorders.

Continuum (Minneap Minn) 2022 06;28(3):834-851

Purpose Of Review: This article provides an overview of the neuropathology of common age-related dementing disorders, focusing on the pathologies that underlie Alzheimer disease (AD) and related dementias, including Lewy body dementias, frontotemporal dementia, vascular dementia, limbic-predominant age-related transactive response DNA-binding protein 43 (TDP-43) encephalopathy (LATE), and mixed-etiology dementias. This article also discusses the underlying proteinopathies of neurodegenerative diseases (eg, amyloid-β, paired helical filament tau, α-synuclein, and TDP-43 pathology) and vascular pathologies, including tissue injury (eg, infarcts, hemorrhages) with or without vessel disease.

Recent Findings: New criteria for AD pathologic diagnosis highlight amyloid-β as the sine qua non of AD; they require molecular markers of amyloid and establish a minimum threshold of Braak neurofibrillary tangle stage 3. Read More

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The Value of Neuroimaging in Dementia Diagnosis.

Continuum (Minneap Minn) 2022 06;28(3):800-821

Purpose Of Review: This article discusses neuroimaging in dementia diagnosis, with a focus on new applications of MRI and positron emission tomography (PET).

Recent Findings: Although the historical use of MRI in dementia diagnosis has been supportive to exclude structural etiologies, recent innovations allow for quantification of atrophy patterns that improve sensitivity for supporting the diagnosis of dementia causes. Neuronuclear approaches allow for localization of specific amyloid and tau neuropathology on PET and are available for clinical use, in addition to dopamine transporter scans in dementia with Lewy bodies and metabolic studies with fludeoxyglucose PET (FDG-PET). Read More

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Neuropsychological Assessment in Dementia Diagnosis.

Sandra Weintraub

Continuum (Minneap Minn) 2022 06;28(3):781-799

Purpose Of Review: This article discusses the application of neuropsychological evaluation to the workup of individuals with age-related cognitive impairment and suspected dementia. Referral questions, principles of evaluation, and common instruments to detect abnormalities in cognition and behavior in this population are reviewed. The integration of neuropsychological test findings with other clinical and biomarker information enhances early detection, differential diagnosis, and care planning. Read More

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