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https://www.readbyqxmd.com/read/28214109/a-novel-mutation-in-trem2-gene-causing-nasu-hakola-disease-and-review-of-the-literature
#1
Efthimios Dardiotis, Vasileios Siokas, Eva Pantazi, Maria Dardioti, Dimitrios Rikos, Georgia Xiromerisiou, Aikaterini Markou, Dimitra Papadimitriou, Matthaios Speletas, Georgios M Hadjigeorgiou
Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as they have been coined, "microgliopathies". Mutations in TREM2 and TYROBP genes are known to cause NHD. Interestingly, recent evidence-associated rare genetic variants of TREM2 gene with increased risk of Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease...
January 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28209520/deconstructing-empathy-neuroanatomical-dissociations-between-affect-sharing-and-prosocial-motivation-using-a-patient-lesion-model
#2
Suzanne M Shdo, Kamalini G Ranasinghe, Kelly A Gola, Clinton J Mielke, Paul V Sukhanov, Bruce L Miller, Katherine P Rankin
Affect sharing and prosocial motivation are integral parts of empathy that are conceptually and mechanistically distinct. We used a neurodegenerative disease (NDG) lesion model to more directly examine the neural correlates of these two aspects of real-world empathic responding. The study enrolled 275 participants, including 44 healthy older controls and 231 patients diagnosed with one of five neurodegenerative diseases (75 Alzheimer's disease, 58 behavioral variant frontotemporal dementia (bvFTD), 42 semantic variant primary progressive aphasia (svPPA), 28 progressive supranuclear palsy, and 28 non-fluent variant (nfvPPA)...
February 13, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28196768/cerebrospinal-fluid-markers-detect-alzheimer-s-disease-in-nonamnestic-dementia
#3
Carly Oboudiyat, Tamar Gefen, Eleni Varelas, Sandra Weintraub, Emily Rogalski, Eileen H Bigio, M-Marsel Mesulam
INTRODUCTION: The accuracy of cerebrospinal fluid (CSF) biomarkers for detecting Alzheimer's disease (AD) pathology has not been fully validated in autopsied nonamnestic dementias. METHODS: We retrospectively evaluated CSF β-amyloid 1-42, phosphorylated-tau, and amyloid-tau index as predictors of Alzheimer pathology in patients with primary progressive aphasia, frontotemporal dementia, and progressive supranuclear palsy. RESULTS: Nineteen nonamnestic autopsied cases with relevant CSF values were included...
February 11, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28188956/the-neural-substrate-of-gait-and-executive-function-relationship-in-elderly-women-a-pet-study
#4
Ryota Sakurai, Kenji Ishii, Masashi Yasunaga, Rumi Takeuchi, Yoh Murayama, Naoko Sakuma, Muneyuki Sakata, Keiichi Oda, Kenji Ishibashi, Kiichi Ishiwata, Yoshinori Fujiwara, Manuel Montero-Odasso
AIM: Understanding the relationship between age-related gait impairment, such as slow gait, and executive functioning in seniors may help identify individuals at higher risk of mobility decline, falls, and progression to dementia at earlier stages. We aim to identify brain regions concomitantly associated with poor gait and executive functioning in a cohort of well-functioning elderly women. METHODS: In total, 149 well-functioning women aged 70.1 ± 6.2 years underwent FDG-PET to evaluate regional cerebral metabolic rates of glucose normalized in reference to cerebellar glucose metabolic value (normalized-rCMRglc) in 16 brain areas...
February 11, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28160100/healthcare-utilization-and-costs-in-primary-care-patients-with-dementia-baseline-results-of-the-delphi-trial
#5
Bernhard Michalowsky, Steffen Flessa, Tilly Eichler, Johannes Hertel, Adina Dreier, Ina Zwingmann, Diana Wucherer, Henriette Rau, Jochen René Thyrian, Wolfgang Hoffmann
The objectives of this cross-sectional analysis were to determine healthcare resource utilization and cost for community-dwelling patients with dementia (PWD) from a payer's and societal perspective, and to analyze the associations between costs and sociodemographic and clinical variables. Analysis of healthcare costs from a payer's perspective was based on a sample of 425 PWD, analysis of healthcare costs from societal perspective on a subsample of 254 PWD and their informal caregivers. Frequency of healthcare resource utilization was assessed by means of questionnaires...
February 3, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/28153380/grn-deletion-in-familial-frontotemporal-dementia-showing-association-with-clinical-variability-in-3-familial-cases
#6
Graziella Milan, Sabrina Napoletano, Sabina Pappatà, Maria Teresa Gentile, Luca Colucci-D'Amato, Gennaro Della Rocca, Anna Maciag, Carmen Palermo Rossetti, Laura Fucci, Annibale Puca, Dario Grossi, Alfredo Postiglione, Emilia Vitale
Progranulin (GRN) gene mutations have been genetically associated with frontotemporal dementia (FTD) and are present in about 23% of patients with familial FTD. However, the neurobiology of this secreted glycoprotein remains unclear. Here, we report the identification of 3 pedigrees of Southern Italian extraction in whom FTD segregates with autosomal dominant inheritance patterns. We present evidence that all the available patients in these 3 familial cases are carrying the rare GRN gene exon 6 deletion g10325_10331delCTGCTGT (relative to nt 1 inNG_007886...
January 9, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28130166/triage-patterns-of-traumatic-subarachnoid-hemorrhage-is-referral-to-a-tertiary-care-center-necessary
#7
Marcus Gates, Grant Mallory, Ryan Planchard, Georgia Nothdurft, Christopher Graffeo, John Atkinson
OBJECT: Isolated traumatic subarachnoid hemorrhage in mild head injuries has growing evidence that triage to a tertiary care facility, ICU admission, and repeat imaging is not warranted. The authors try to identify certain factors that predict radiographic and clinical progression in hopes of preventing avoidable cost that occur with transfer and subsequent management. METHODS: A retrospective analysis identified 67 patients transferred between January 2010 and December 2014 who met inclusion criteria...
January 24, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28106561/the-modified-frontal-behavioral-inventory-fbi-mod-for-patients-with-frontotemporal-lobar-degeneration-alzheimer-s-disease-and-mild-cognitive-impairment
#8
Noora-Maria Suhonen, Ilona Hallikainen, Tuomo Hänninen, Jari Jokelainen, Johanna Krüger, Anette Hall, Maria Pikkarainen, Hilkka Soininen, Anne M Remes
While behavioral symptoms are both early and prevalent features of behavioral variant frontotemporal dementia (bvFTD), they can be present in other types of dementia as well, including Alzheimer's disease (AD) and even mild cognitive impairment (MCI). The Frontal Behavioral Inventory (FBI) was specifically developed to capture the behavioral and personality changes in bvFTD; it has also been modified into a self-administered caregiver questionnaire (FBI-mod). We examined the utility of the FBI-mod in differentiating bvFTD (n = 26), primary progressive aphasia (PPA) (n = 7), AD (n = 53), and MCI (n = 50) patients, and investigated how the FBI-mod may be associated with neuropsychological measures...
January 20, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28103593/executive-dysfunction-and-behavioral-symptoms-are-associated-with-deficits-in-instrumental-activities-of-daily-living-in-frontotemporal-dementia
#9
Negar Moheb, Mario F Mendez, Sarah A Kremen, Edmond Teng
BACKGROUND: Deficits in instrumental activities of daily living (ADLs) may be more prominent in behavioral variant frontotemporal dementia (bvFTD) than in nonfluent/agrammatic variant primary progressive aphasia (nfvPPA) or semantic variant primary progressive aphasia (svPPA). It is uncertain whether frontotemporal dementia (FTD) subgroups exhibit different patterns and/or predictors of functional impairment. METHODS: We examined data from participants diagnosed with bvFTD (n = 607), svPPA (n = 132), and nfvPPA (n = 155) who were included in the National Alzheimer's Coordinating Center (NACC) Uniform Data Set (UDS) and assessed with the Functional Activities Questionnaire (FAQ)...
2017: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/28072381/magnetic-resonance-imaging-and-positron-emission-tomography-in-the-diagnosis-of-neurodegenerative-dementias
#10
REVIEW
A Del Sole, S Malaspina, Alberto Magenta Biasina
Neuroimaging, both with magnetic resonance imaging (MRI) and positron emission tomography (PET), has gained a pivotal role in the diagnosis of primary neurodegenerative diseases. These two techniques are used as biomarkers of both pathology and progression of Alzheimer's disease (AD) and to differentiate AD from other neurodegenerative diseases. MRI is able to identify structural changes including patterns of atrophy characterizing neurodegenerative diseases, and to distinguish these from other causes of cognitive impairment, e...
October 2016: Functional Neurology
https://www.readbyqxmd.com/read/28062563/pathology-of-neurodegenerative-diseases
#11
Brittany N Dugger, Dennis W Dickson
Neurodegenerative disorders are characterized by progressive loss of selectively vulnerable populations of neurons, which contrasts with select static neuronal loss because of metabolic or toxic disorders. Neurodegenerative diseases can be classified according to primary clinical features (e.g., dementia, parkinsonism, or motor neuron disease), anatomic distribution of neurodegeneration (e.g., frontotemporal degenerations, extrapyramidal disorders, or spinocerebellar degenerations), or principal molecular abnormality...
January 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28035929/the-citicholinage-study-citicoline-plus-cholinesterase-inhibitors-in-aged-patients-affected-with-alzheimer-s-disease-study
#12
Pietro Gareri, Alberto Castagna, Antonino Maria Cotroneo, Daria Putignano, Raffaele Conforti, Francesco Santamaria, Saverio Marino, Salvatore Putignano
BACKGROUND: Citicoline can have beneficial effects both in degenerative and in vascular cognitive decline in a variety of ways (apoptosis inhibition, neuroplasticity potentiation, phospholipid, and acetylcholine (ACh) synthesis). Acetylcholinesterase inhibitors (AChEIs) have been used for treatment of Alzheimer's disease (AD). When co-administered with cholinergic precursors, they are able to increase the intrasynaptic levels of ACh more than when the single drugs given alone. OBJECTIVE: The aim of the present study was to show the effectiveness of oral citicoline plus AChEIs in patients affected with AD...
December 30, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27999880/-pathomechanisms-and-clinical-aspects-of-frontotemporal-lobar-degeneration
#13
REVIEW
K Bürger, T Arzberger, J Stephan, J Levin, D Edbauer
BACKGROUND: Frontotemporal lobar degeneration (FTLD) includes a spectrum of heterogeneous clinical and neuropathological diseases. In a strict sense this includes the behavioral variant of frontotemporal dementia (bvFTD) and primary progressive aphasia (PPA) and both variants can be associated with amyotrophic lateral sclerosis (FTD-ALS). In a broader sense FTLD also includes progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). In recent years the strong genetic component of FTLD has become increasingly clear...
December 20, 2016: Der Nervenarzt
https://www.readbyqxmd.com/read/27965860/behavioural-activation-written-self-help-to-improve-mood-wellbeing-and-quality-of-life-in-people-with-dementia-supported-by-informal-carers-promote-a-study-protocol-for-a-single-arm-feasibility-study
#14
Paul Farrand, Joanne Woodford, David Llewellyn, Martin Anderson, Shanker Venkatasubramanian, Obioha C Ukoumunne, Anna Adlam, Chris Dickens
BACKGROUND: Increases in life expectancy have resulted in a global rise in dementia prevalence. Dementia is associated with poor wellbeing, low quality of life and increased incidence of mental health difficulties such as low mood or depression. However, currently, there is limited access to evidence-based psychological interventions for people with dementia experiencing low mood and poor wellbeing. Behavioural activation-based self-help, supported by informal carers and guided by mental health professionals, may represent an effective and acceptable solution...
2016: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/27893087/targeting-functional-decline-in-alzheimer-disease-a-randomized-trial
#15
Christopher M Callahan, Malaz A Boustani, Arlene A Schmid, Michael A LaMantia, Mary G Austrom, Douglas K Miller, Sujuan Gao, Denisha Y Ferguson, Kathleen A Lane, Hugh C Hendrie
Background: Alzheimer disease results in progressive functional decline, leading to loss of independence. Objective: To determine whether collaborative care plus 2 years of home-based occupational therapy delays functional decline. Design: Randomized, controlled clinical trial. (ClinicalTrials.gov: NCT01314950). Setting: Urban public health system. Patients: 180 community-dwelling participants with Alzheimer disease and their informal caregivers...
February 7, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/27893026/prevalence-of-depression-in-patients-with-mild-cognitive-impairment-a-systematic-review-and-meta-analysis
#16
Zahinoor Ismail, Heba Elbayoumi, Corinne E Fischer, David B Hogan, Colleen P Millikin, Tom Schweizer, Moyra E Mortby, Eric E Smith, Scott B Patten, Kirsten M Fiest
Importance: Depression is common in individuals with mild cognitive impairment (MCI) and may confer a higher likelihood of progression to dementia. Prevalence estimates of depression in those with MCI are required to guide both clinical decisions and public health policy, but published results are variable and lack precision. Objective: To provide a precise estimate of the prevalence of depression in individuals with MCI and identify reasons for heterogeneity in the reported results...
January 1, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/27891726/everyday-conversation-in-dementia-a-review-of-the-literature-to-inform-research-and-practice
#17
REVIEW
Jacqueline Kindell, John Keady, Karen Sage, Ray Wilkinson
BACKGROUND: There has been increasing interest in dementia care in recent years, including how practitioners, service providers and society in general can help individuals to live well with the condition. An important aspect to this is provision of advice to ensure conversation partners effectively support the person with dementia in conversation. AIMS: To provide a descriptive review of the literature examining everyday conversation in dementia in order to inform practice and research...
November 27, 2016: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/27888180/northern-manhattan-hispanic-caregiver-intervention-effectiveness-study-protocol-of-a-pragmatic-randomised-trial-comparing-the-effectiveness-of-two-established-interventions-for-informal-caregivers-of-persons-with-dementia
#18
José A Luchsinger, Louis Burgio, Mary Mittelman, Ilana Dunner, Jed A Levine, Jian Kong, Stephanie Silver, Mildred Ramirez, Jeanne A Teresi
INTRODUCTION: The prevalence of dementia is increasing without a known cure, resulting in an increasing number of informal caregivers. Caring for a person with dementia results in increased stress and depressive symptoms. There are several behavioural interventions designed to alleviate stress and depressive symptoms in caregivers of persons with dementia with evidence of efficacy. Two of the best-known interventions are the New York University Caregiver Intervention (NYUCI) and the Resources for Enhancing Alzheimer's Caregivers Health (REACH)...
November 25, 2016: BMJ Open
https://www.readbyqxmd.com/read/27884882/lymphomatosis-cerebri-diagnostic-challenges-and-review-of-the-literature
#19
Paul J Lee, Idanis Berrios, Carolina Ionete, Thomas Smith
Lymphomatosis cerebri (LC) is a rare variant of a primary central nervous system non-Hodgkin's lymphoma (PCNSL) characterised by diffuse infiltration of tumour cells throughout the brain parenchyma. We present a 68-year-old immunocompetent woman with headaches, dizziness, blurred vision, localised right leg weakness and rapidly progressive dementia. A brain MRI demonstrated diffuse T2 hyperintense white matter lesions that did not enhance with contrast. The clinical differential diagnosis of these lesions included metastatic disease, infectious or inflammatory process such as sarcoidosis, lymphoma, demyelinating disease and less likely vascular aetiology, such as vasculitis or ischaemic stroke...
November 24, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27865707/a-comprehensive-database-of-published-tdcs-clinical-trials-2005-2016
#20
REVIEW
Jean-Pascal Lefaucheur
Transcranial direct current stimulation (tDCS) is a technique of noninvasive cortical stimulation allowing significant modification of brain functions. Clinical application of this technique was reported for the first time in March 2005. This paper presents a detailed list of the 340 articles (excluding single case reports) which have assessed the clinical effect of tDCS in patients, at least when delivered to cortical targets. The reviewed conditions were: pain syndromes, Parkinson's disease, dystonia, cerebral palsy, post-stroke limb motor impairment, post-stroke neglect, post-stroke dysphagia, post-stroke aphasia, primary progressive aphasia, multiple sclerosis, epilepsy, consciousness disorders, Alzheimer's disease and other types of dementia, tinnitus, depression, auditory hallucinations and negative symptoms of schizophrenia, addiction and craving, autism, and attention disorders...
December 2016: Neurophysiologie Clinique, Clinical Neurophysiology
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