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https://www.readbyqxmd.com/read/28219319/biomarkers-in-alzheimer-s-disease-recent-update
#1
Sushil Sharma, Walter Lipincott
Alzheimer disease (AD) is an age-related neurodegenerative disorder, characterized by loss of memory and cognitive function. It is the common cause of dementia in elderly and is a global health concern as the population of people aged 85 and older, is growing alarmingly. Although pharmacotherapy for the treatment of AD has improved, lot of work remains to treat this devastating disease. AD pathology begins even before the onset of clinical symptoms. Because therapies could be more effective if implemented early in the disease progression, it is highly prudent to discover reliable biomarkers, to detect its exact pathophysiology during pre-symptomatic stage...
February 20, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28137957/loss-of-function-mutations-in-the-atp13a2-park9-gene-cause-complicated-hereditary-spastic-paraplegia-spg78
#2
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments...
February 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28080965/feeling-learning-from-and-being-aware-of-inner-states-interoceptive-dimensions-in-neurodegeneration-and-stroke
#3
Indira García-Cordero, Lucas Sedeño, Laura de la Fuente, Andrea Slachevsky, Gonzalo Forno, Francisco Klein, Patricia Lillo, Jesica Ferrari, Clara Rodriguez, Julian Bustin, Teresa Torralva, Sandra Baez, Adrian Yoris, Sol Esteves, Margherita Melloni, Paula Salamone, David Huepe, Facundo Manes, Adolfo M García, Agustín Ibañez
Interoception is a complex process encompassing multiple dimensions, such as accuracy, learning and awareness. Here, we examined whether each of those dimensions relies on specialized neural regions distributed throughout the vast interoceptive network. To this end, we obtained relevant measures of cardiac interoception in healthy subjects and patients offering contrastive lesion models of neurodegeneration and focal brain damage: behavioural variant fronto-temporal dementia (bvFTD), Alzheimer's disease (AD) and fronto-insular stroke...
November 19, 2016: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/27778099/brain-structural-profile-of-multiple-system-atrophy-patients-with-cognitive-impairment
#4
Eleonora Fiorenzato, Luca Weis, Klaus Seppi, Marco Onofrj, Pietro Cortelli, Stefano Zanigni, Caterina Tonon, Horacio Kaufmann, Timothy Michael Shepherd, Werner Poewe, Florian Krismer, Gregor Wenning, Angelo Antonini, Roberta Biundo
Current consensus diagnostic criteria for multiple system atrophy (MSA) consider dementia a non-supporting feature, although cognitive impairment and even frank dementia are reported in clinical practice. Mini-Mental State Examination (MMSE) is a commonly used global cognitive scale, and in a previous study, we established an MSA-specific screening cut-off score <27 to identify cognitive impairment. Finally, MSA neuroimaging findings suggest the presence of structural alterations in patients with cognitive deficits, although the extent of the anatomical changes is unclear...
October 24, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27698649/progressively-disrupted-intrinsic-functional-connectivity-of-basolateral-amygdala-in-very-early-alzheimer-s-disease
#5
Marion Ortner, Lorenzo Pasquini, Martina Barat, Panagiotis Alexopoulos, Timo Grimmer, Stefan Förster, Janine Diehl-Schmid, Alexander Kurz, Hans Förstl, Claus Zimmer, Afra Wohlschläger, Christian Sorg, Henning Peters
Very early Alzheimer's disease (AD) - i.e., AD at stages of mild cognitive impairment (MCI) and mild dementia - is characterized by progressive structural and neuropathologic changes, such as atrophy or tangle deposition in medial temporal lobes, including hippocampus and entorhinal cortex and also adjacent amygdala. While progressively disrupted intrinsic connectivity of hippocampus with other brain areas has been demonstrated by many studies, amygdala connectivity was rarely investigated in AD, notwithstanding its known relevance for emotion processing and mood disturbances, which are both important in early AD...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27647788/person-based-versus-generalized-impulsivity-disinhibition-in-frontotemporal-dementia-and-alzheimer-disease
#6
Pongsatorn Paholpak, Andrew R Carr, Joseph P Barsuglia, Robin J Barrows, Elvira Jimenez, Grace J Lee, Mario F Mendez
BACKGROUND: While much disinhibition in dementia results from generalized impulsivity, in behavioral variant frontotemporal dementia (bvFTD) disinhibition may also result from impaired social cognition. OBJECTIVE: To deconstruct disinhibition and its neural correlates in bvFTD vs. early-onset Alzheimer's disease (eAD). METHODS: Caregivers of 16 bvFTD and 21 matched-eAD patients completed the Frontal Systems Behavior Scale disinhibition items...
September 19, 2016: Journal of Geriatric Psychiatry and Neurology
https://www.readbyqxmd.com/read/27630558/anatomical-correlates-of-non-verbal-perception-in-dementia-patients
#7
Pin-Hsuan Lin, Hsiu-Hui Chen, Nai-Ching Chen, Wen-Neng Chang, Chi-Wei Huang, Ya-Ting Chang, Shih-Wei Hsu, Che-Wei Hsu, Chiung-Chih Chang
PURPOSE: Patients with dementia who have dissociations in verbal and non-verbal sound processing may offer insights into the anatomic basis for highly related auditory modes. METHODS: To determine the neuronal networks on non-verbal perception, 16 patients with Alzheimer's dementia (AD), 15 with behavior variant fronto-temporal dementia (bv-FTD), 14 with semantic dementia (SD) were evaluated and compared with 15 age-matched controls. Neuropsychological and auditory perceptive tasks were included to test the ability to compare pitch changes, scale-violated melody and for naming and associating with environmental sound...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27555109/a-multimodal-structural-and-functional-neuroimaging-study-of-amnestic-mild-cognitive-impairment
#8
Srikala Bharath, Himanshu Joshi, John P John, Rakesh Balachandar, Shilpa Sadanand, Jitendra Saini, Keshav J Kumar, Mathew Varghese
Examination of brain structural and functional abnormalities in amnestic mild cognitive impairment (aMCI) has the potential to enhance our understanding of the initial pathophysiological changes in dementia. We examined gray matter volumes and white matter microstructural integrity, as well as resting state functional connectivity (rsFC) in patients with aMCI (N = 48) in comparison to elderly cognitively healthy comparison subjects (N = 48). Brain volumetric comparisons were carried out using voxel-based morphometric analysis of T1-weighted images using the FMRIB Software Library...
February 2017: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/27498041/different-fdg-pet-metabolic-patterns-at-single-subject-level-in-the-behavioral-variant-of-fronto-temporal-dementia
#9
Chiara Cerami, Alessandra Dodich, Giada Lettieri, Sandro Iannaccone, Giuseppe Magnani, Alessandra Marcone, Luigi Gianolli, Stefano F Cappa, Daniela Perani
BACKGROUND: The diagnosis of probable behavioral variant of fronto-temporal dementia (bvFTD) according to current criteria requires the imaging evidence of frontal and/or anterior temporal atrophy or hypoperfusion/hypometabolism. Different variants of this pattern of brain involvement may, however, be found in individual cases, supporting the presence of heterogeneous phenotypes. OBJECTIVE: We examined in a case-by-case approach the FDG-PET metabolic patterns of patients fulfilling clinical criteria for probable bvFTD, assessing the presence and frequency of specific FDG-PET features...
October 2016: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/27476503/dynamic-expression-of-the-mouse-orthologue-of-the-human-amyotropic-lateral-sclerosis-associated-gene-c9orf72-during-central-nervous-system-development-and-neuronal-differentiation
#10
Ross Ferguson, Eleni Serafeimidou-Pouliou, Vasanta Subramanian
The hexanucleotide repeat in the first intron of the C9orf72 gene is the most significant cause of amyotropic lateral sclerosis as well as some forms of fronto-temporal dementia. The C9orf72 protein has been previously reported to be expressed in post-mortem human brain as well as in late embryonic and some postnatal stages in mice. Herein, we present a detailed study of the distribution of C9orf72 protein in the embryonic, postnatal and adult mouse brain, spinal cord as well as during the differentiation of P19 embryonal carcinoma cells to neurons including motor neurons...
December 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/27445778/identifying-dynamic-functional-connectivity-changes-in-dementia-with-lewy-bodies-based-on-product-hidden-markov-models
#11
Marion Sourty, Laurent Thoraval, Daniel Roquet, Jean-Paul Armspach, Jack Foucher, Frédéric Blanc
Exploring time-varying connectivity networks in neurodegenerative disorders is a recent field of research in functional MRI. Dementia with Lewy bodies (DLB) represents 20% of the neurodegenerative forms of dementia. Fluctuations of cognition and vigilance are the key symptoms of DLB. To date, no dynamic functional connectivity (DFC) investigations of this disorder have been performed. In this paper, we refer to the concept of connectivity state as a piecewise stationary configuration of functional connectivity between brain networks...
2016: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/27298765/face-shape-and-face-identity-processing-in-behavioral-variant-fronto-temporal-dementia-a-specific-deficit-for-familiarity-and-name-recognition-of-famous-faces
#12
François-Laurent De Winter, Dorien Timmers, Beatrice de Gelder, Marc Van Orshoven, Marleen Vieren, Miriam Bouckaert, Gert Cypers, Jo Caekebeke, Laura Van de Vliet, Karolien Goffin, Koen Van Laere, Stefan Sunaert, Rik Vandenberghe, Mathieu Vandenbulcke, Jan Van den Stock
Deficits in face processing have been described in the behavioral variant of fronto-temporal dementia (bvFTD), primarily regarding the recognition of facial expressions. Less is known about face shape and face identity processing. Here we used a hierarchical strategy targeting face shape and face identity recognition in bvFTD and matched healthy controls. Participants performed 3 psychophysical experiments targeting face shape detection (Experiment 1), unfamiliar face identity matching (Experiment 2), familiarity categorization and famous face-name matching (Experiment 3)...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27298146/neuroimaging-findings-related-to-behavioral-disturbances-in-alzheimer-s-disease-a-systematic-review
#13
Gilberto Sousa Alves, André Férrer Carvalho, Luiza de Amorim de Carvalho, Felipe Kenji Sudo, José Ibiapina Siqueira-Neto, Alina Jurcoane, Christian Knöchel, Henning Boecker, Jerson Laks, Johannes Pantel
BACKGROUND: Behavioral and psychological symptoms of dementia (BPSD) associated with Alzheimer´s Disease (AD) have been linked to structural and functional alterations in fronto-temporal circuits and cortical abnormalities. However, little is known on how specific volumetric and functional brain changes may be associated with the frequency, severity and pattern of BPSD. METHODS: A systematic review of the literature regarding neuroimaging and BPSD changes in AD was performed through Pubmed/Medline, ISI, and EMBASE electronic databases from January 2000 to May 2015...
June 2, 2016: Current Alzheimer Research
https://www.readbyqxmd.com/read/27293347/an-unusual-case-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-with-occipital-lobe-involvement
#14
Bhavesh Trikamji, Mariam Thomas, Gasser Hathout, Shrikant Mishra
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant angiopathy caused by a mutation in the notch 3 gene on chromosome 19. Clinically, patients may be asymptomatic or can present with recurrent ischemic episodes and strokes leading to dementia, depression, pseudobulbar palsy, and hemi- or quadraplegia. Additional manifestations that have been described include migraine (mostly with aura), psychiatric disturbances, and epileptic seizures...
April 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27190928/behavioural-variant-frontotemporal-dementia-with-bilateral-insular-hypometabolism-a-case-report
#15
Ananya Mahapatra, Mamta Sood, Roshan Bhad, Manjari Tripathi
Fronto-Temporal Dementia (FTD) is a cluster of syndromes, characterized by progressive deterioration of cognition, language and/or behavioural changes associated with degeneration of the frontal and temporal lobes. A 53-year-old man was admitted with a history of gradually progressive behavioural disturbances, disinhibition, unprovoked anger outbursts, apathy, disorganised behaviour and impaired self-care. A clinical diagnosis of Fronto temporal Dementia (behavioural variant) was made. Extensive investigations found no abnormality except in FDG-PET scan of the brain which revealed hypo metabolism in bilateral anterior insular region...
April 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27163810/neuroimaging-correlates-of-frontotemporal-dementia-associated-with-sqstm1-mutations
#16
Elkin Luis, Alexandra Ortiz, Luis Eudave, Sara Ortega-Cubero, Barbara Borroni, Julie van der Zee, Stefano Gazzina, Paola Caroppo, Elisa Rubino, Federico D'Agata, Isabelle Le Ber, Isabel Santana, Gil Cunha, Maria R Almeida, Claire Boutoleau-Bretonnière, Didier Hannequin, David Wallon, Innocenzo Rainero, Daniela Galimberti, Christine Van Broeckhoven, Maria A Pastor, Pau Pastor
BACKGROUND: Frontotemporal lobar degeneration (FTLD) is a progressive dementia characterized by focal atrophy of frontal and/or temporal lobes caused by mutations in the gene coding for sequestosome 1 (SQSTM1), among other genes. Rare SQSTM1 gene mutations have been associated with Paget's disease of bone, amyotrophic lateral sclerosis, and, more recently, frontotemporal lobar degeneration (FTLD). OBJECTIVE: The aim of the study was to determine whether a characteristic pattern of grey and white matter loss is associated with SQSTM1 dysfunction...
May 7, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27111069/a-long-term-longitudinal-follow-up-of-depressed-patients-treated-with-ect-with-special-focus-on-development-of-dementia
#17
Åke Berggren, Lars Gustafson, Peter Höglund, Aki Johanson
BACKGROUND: In this study, the long term effects of ECT on patients with depression were investigated through repeated rCBF and EEG measures as well as clinical characteristics over several years. The aim of the investigation was to establish an association with the eventual development of dementia. METHOD: A cohort of forty-nine patients (21 men and 28 women) with a mean age of 61 years underwent ECT. A subsequent evaluation from medical records and three rating-scales for diagnosis of Alzheimer´s disease (AD), fronto-temporal dementia (FTD), and for vascular dementia (VaD), revealed that 17 patients (8 men and 9 women), had developed dementia...
August 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/26973510/progranulin-mutations-affects-brain-oscillatory-activity-in-fronto-temporal-dementia
#18
Davide V Moretti, Luisa Benussi, Silvia Fostinelli, Miriam Ciani, Giuliano Binetti, Roberta Ghidoni
BACKGROUND: Mild cognitive impairment (MCI) is a clinical stage indicating a prodromal phase of dementia. This practical concept could be used also for fronto-temporal dementia (FTD). Progranulin (PGRN) has been recently recognized as a useful diagnostic biomarker for fronto-temporal lobe degeneration (FTLD) due to GRN null mutations. Electroencephalography (EEG) is a reliable tool in detecting brain networks changes. The working hypothesis of the present study is that EEG oscillations could detect different modifications among FTLD stages (FTD-MCI versus overt FTD) as well as differences between GRN mutation carriers versus non-carriers in patients with overt FTD...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/26970514/frequent-globular-neuronal-cytoplasmic-inclusions-in-the-medial-temporal-region-as-a-possible-characteristic-feature-in-multiple-system-atrophy-with-dementia
#19
Taku Homma, Yoko Mochizuki, Takashi Komori, Eiji Isozaki
Multiple system atrophy (MSA) is an adult-onset neurodegenerative disease, which is characterized clinically by parkinsonism, cerebellar ataxia and/or autonomic dysfunction, and pathologically by alpha-synuclein-related multisystem neurodegeneration, so-called alpha-synucleinopathy, which particularly involves the striatonigral and olivopontocerebellar systems, with glial cytoplasmic inclusions and neuronal cytoplasmic/nuclear inclusions (NCIs/NNIs). In the recent consensus criteria for the diagnosis of MSA, dementia is described as one of the features not supporting a diagnosis of MSA...
October 2016: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/26969684/is-huntington-s-disease-a-tauopathy
#20
REVIEW
Maud Gratuze, Giulia Cisbani, Francesca Cicchetti, Emmanuel Planel
Tauopathies are a subclass of neurodegenerative diseases typified by the deposition of abnormal microtubule-associated tau protein within the cerebral tissue. Alzheimer's disease, progressive supranuclear palsy, chronic traumatic encephalopathy and some fronto-temporal dementias are examples of the extended family of tauopathies. In the last decades, intermittent reports of cerebral tau pathology in individuals afflicted with Huntington's disease-an autosomal dominant neurodegenerative disorder that manifests by severe motor, cognitive and psychiatric problems in adulthood-have also begun to surface...
April 2016: Brain: a Journal of Neurology
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