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https://www.readbyqxmd.com/read/28334843/a152t-tau-allele-causes-neurodegeneration-that-can-be-ameliorated-in-a-zebrafish-model-by-autophagy-induction
#1
Ana Lopez, Suzee E Lee, Kevin Wojta, Eliana Marisa Ramos, Eric Klein, Jason Chen, Adam L Boxer, Maria Luisa Gorno-Tempini, Daniel H Geschwind, Lars Schlotawa, Nikolay V Ogryzko, Eileen H Bigio, Emily Rogalski, Sandra Weintraub, Marsel M Mesulam, Angeleen Fleming, Giovanni Coppola, Bruce L Miller, David C Rubinsztein
Mutations in the gene encoding tau (MAPT) cause frontotemporal dementia spectrum disorders. A rare tau variant p.A152T was reported as a risk factor for frontotemporal dementia spectrum and Alzheimer's disease in an initial case-control study. Such findings need replication in an independent cohort. We analysed an independent multinational cohort comprising 3100 patients with neurodegenerative disease and 4351 healthy control subjects and found p.A152T associated with significantly higher risk for clinically defined frontotemporal dementia and progressive supranuclear palsy syndrome...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28328043/csf-tau-and-the-csf-tau-abeta-ratio-for-the-diagnosis-of-alzheimer-s-disease-dementia-and-other-dementias-in-people-with-mild-cognitive-impairment-mci
#2
REVIEW
Craig Ritchie, Nadja Smailagic, Anna H Noel-Storr, Obioha Ukoumunne, Emma C Ladds, Steven Martin
BACKGROUND: Research suggests that measurable change in cerebrospinal fluid (CSF) biomarkers occurs years in advance of the onset of clinical symptoms (Beckett 2010). In this review, we aimed to assess the ability of CSF tau biomarkers (t-tau and p-tau) and the CSF tau (t-tau or p-tau)/ABeta ratio to enable the detection of Alzheimer's disease pathology in patients with mild cognitive impairment (MCI). These biomarkers have been proposed as important in new criteria for Alzheimer's disease dementia that incorporate biomarker abnormalities...
March 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28326820/patterns-of-everyday-technology-use-and-activity-involvement-in-mild-cognitive-impairment-a-five-year-follow-up-study
#3
Annicka Hedman, Anders Kottorp, Louise Nygård
OBJECTIVES: The aims were to describe longitudinal patterns in terms of perceived ability to use everyday technology (ET) and involvement in everyday activities over five years in older adults with mild cognitive impairment (MCI), and to examine the predictive value of these patterns regarding diagnostic outcomes. METHOD: Thirty older adults diagnosed with MCI at inclusion, reported their perceived ability in using ET and involvement in everyday activities on seven occasions over five years...
March 22, 2017: Aging & Mental Health
https://www.readbyqxmd.com/read/28319243/association-of-antioxidant-supplement-use-and-dementia-in-the-prevention-of-alzheimer-s-disease-by-vitamin-e-and-selenium-trial-preadvise
#4
Richard J Kryscio, Erin L Abner, Allison Caban-Holt, Mark Lovell, Phyllis Goodman, Amy K Darke, Monica Yee, John Crowley, Frederick A Schmitt
Importance: Oxidative stress is an established dementia pathway, but it is unknown if the use of antioxidant supplements can prevent dementia. Objective: To determine if antioxidant supplements (vitamin E or selenium) used alone or in combination can prevent dementia in asymptomatic older men. Design, Setting, and Participants: The Prevention of Alzheimer's Disease by Vitamin E and Selenium (PREADViSE) trial began as a double-blind randomized clinical trial in May 2002, which transformed into a cohort study from September 2009 to May 2015...
March 20, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28318955/calcified-amorphous-tumor-causing-shower-embolism-to-the-brain-a-case-report-with-serial-echocardiographic-and-neuroradiologic-images-and-a-review-of-the-literature
#5
Takaomi Singu, Yuichiro Inatomi, Toshiro Yonehara, Yukio Ando
An 89-year-old woman with chronic atrial fibrillation, hypertension, chronic heart failure, and dementia was admitted to our hospital due to multiple small cerebral and cerebellar infarctions. Transthoracic echocardiogram revealed a floating calcified mass lesion arising from the endocardium of the posterior portion of the mitral annulus with mitral annular calcification. Furthermore, the mass had a heterogeneity of the echogenicity. The mass was diagnosed as a calcified amorphous tumor based on specific echocardiographic features...
March 15, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28316870/dural-arteriovenous-fistula-manifested-as-rapid-progressive-dementia-successfully-treated-by-endovascular-embolization-only
#6
Heewon Hwang, Yun Kyung La, Min Seok Baek, Kyoungwon Baik, Sang Hyun Suh, Won-Joo Kim
A 43-year-old male presented with daytime sleepiness at work and indifferent behavior like never before. Two weeks prior to hospital admission, he had episodic memory loss with well preserved remote memory. Brain MRI showed a dural arteriovenous fistula (DAVF) in the right lateral transverse sinus with a bilateral thalamic venous infarction. Cerebral angiography confirmed a right transverse sigmoid dural arteriovenous fistula with a feeding artery of the right occipital artery and left posterior meningeal artery...
March 2017: Neurointervention
https://www.readbyqxmd.com/read/28304311/frontotemporal-dementia-due-to-the-novel-grn-arg161glyfsx36-mutation
#7
Stefano Gazzina, Silvana Archetti, Antonella Alberici, Elisa Bonomi, Maura Cosseddu, Diego Di Lorenzo, Alessandro Padovani, Barbara Borroni
Progranulin is a multifunctional growth factor mainly expressed in neurons and microglia. Loss-of-function mutations in the Granulin (GRN) gene are causative of frontotemporal dementia with TAR DNA-binding protein-43 inclusions. We reported the case of a 51-year-old male patient affected by sporadic agrammatic variant of primary progressive aphasia, in whom we identified a novel heterozygous deletion in the exon 6 (g.10338_39delAG, p.Arg161GlyfsX36). Plasma progranulin levels were significantly reduced and in silico analysis predicted a premature termination codon...
March 18, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28294987/sensory-neuronopathy-revealing-severe-vitamin-b12-deficiency-in-a-patient-with-anorexia-nervosa-an-often-forgotten-reversible-cause
#8
Jérôme Franques, Laurent Chiche, Stéphane Mathis
Vitamin B12 (B12) deficiency is known to be associated with various neurological manifestations. Although central manifestations such as dementia or subacute combined degeneration are the most classic, neurological manifestations also include sensory neuropathies. However, B12 deficiency is still rarely integrated as a potential cause of sensory neuronopathy. Moreover, as many medical conditions can falsely normalize serum B12 levels even in the context of a real B12 deficiency, some cases may easily remain underdiagnosed...
March 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28291768/case-report-of-serratus-plane-catheter-for-pain-management-in-a-patient-with-multiple-rib-fractures-and-an-inferior-scapular-fracture
#9
Peter Fu, Paul D Weyker, Christopher A J Webb
We placed a superficial serratus anterior plane catheter in an elderly woman with dementia and elevated clotting times who presented with multiple rib fractures after a mechanical fall. She was not a surgical candidate, and treatment consisted of conservative management with physical therapy and pain control. She was not a candidate for a patient-controlled analgesia regimen because of her dementia. Given her elevated international normalized ratio, thoracic epidural and paravertebral analgesia was also contraindicated...
March 15, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28291299/-neurosyphilis-in-psychiatric-settings-three-case-reports
#10
Erhan Akıncı, Fatih Öncü, Barış Topçular
Syphilis is a generally sexually transmitted and multisystem disease caused by the spirochete Treponema pallidum. All of the organs of the body may be involved during the course of the disease. Neurosyphilis is a clinical form of syphilis with the central nervous system (CNS) involvement. While primarily meningeal and vascular structures are involved in early neurosyphilis, a parenchymal affection of the brain and spinal cord emerges at later stages of neurosyphilis. It presents with symptoms of meningitis, meningovasculitis and parenchymal neurosyphilis (presenting as tabes dorsalis and general paresis)...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28290708/young-onset-dementia-and-the-need-for-specialist-care-a-national-and-international-perspective
#11
J E Carter, J R Oyebode, R T C M Koopmans
OBJECTIVES: Receiving a timely and accurate diagnosis and gaining access to age-appropriate support for younger people living with dementia (YPD) remains a challenge both in the UK and internationally because the focus of most dementia services is primarily upon the needs of older people. The political case to improve services for YPD depends upon the establishment of an understanding of the clinical symptoms, an unequivocal evidence base about need and an accurate evaluation of the size of the population affected...
March 14, 2017: Aging & Mental Health
https://www.readbyqxmd.com/read/28285306/extremely-low-prevalence-of-amyloid-positron-emission-tomography-positivity-in-parkinson-s-disease-without-dementia
#12
Kyoko Mashima, Daisuke Ito, Masashi Kameyama, Takashi Osada, Hajime Tabuchi, Yoshihiro Nihei, Takahito Yoshizaki, Eri Noguchi, Mariko Tanikawa, Takashi Iizuka, Yugaku Date, Yuji Ogata, Tadaki Nakahara, Yu Iwabuchi, Masahiro Jinzaki, Koji Murakami, Norihiro Suzuki
BACKGROUND: Most cases of dementia with Lewy bodies (DLB) show Alzheimer's disease pathology-like senile plaques and neurofibrillary tangles. Several studies have also revealed a high prevalence of positive amyloid imaging with positron emission tomography (PET) in DLB and moderate prevalence in Parkinson's disease (PD) with dementia. However, it remains unclear in PD without dementia as to when the brain β amyloid (Aβ) burden begins and progresses. Our study aimed to determine the prevalence of Aβ deposition in PD without dementia using amyloid PET...
March 11, 2017: European Neurology
https://www.readbyqxmd.com/read/28281838/diagnostic-function-of-the-neuroinflammatory-biomarker-ykl-40-in-alzheimer-s-disease-and-other-neurodegenerative-diseases
#13
Filippo Baldacci, Simone Lista, Enrica Cavedo, Ubaldo Bonuccelli, Harald Hampel
Neuroinflammation is a crucial mechanism in the pathophysiology of neurodegenerative diseases pathophysiology. Cerebrospinal fluid (CSF) YKL-40 - an indicator of microglial activation - has recently been identified by proteomic studies as a candidate biomarker for Alzheimer's disease (AD). Areas covered: We review the impact of CSF YKL-40 as a pathophysiological biomarker for AD and other neurodegenerative diseases. CSF YKL-40 concentrations have been shown to predict progression from prodromal mild cognitive impairment to AD dementia...
March 20, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28279898/concern-about-developing-alzheimer-s-disease-or-dementia-and-intention-to-be-screened-an-analysis-of-national-survey-data
#14
Weizhou Tang, Kristie Kannaley, Daniela B Friedman, Valerie J Edwards, Sara Wilcox, Sue E Levkoff, Rebecca H Hunter, Cheryl Irmiter, Basia Belza
OBJECTIVE: Early diagnosis of Alzheimer's disease (AD) or dementia is important so that patients can express treatment preferences, subsequently allowing caregivers to make decisions consistent with their wishes. This study explored the relationship between people's concern about developing AD/dementia, likelihood to be screened/tested, if experiencing changes in cognitive status or functioning, and concerns about sharing the diagnostic information with others. METHOD: A descriptive study was conducted using Porter Novelli's SummerStyles 2013 online survey data...
March 1, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28267788/dementia-incidence-trend-over-1992-2014-in-the-netherlands-analysis-of-primary-care-data
#15
Emma F van Bussel, Edo Richard, Derk L Arts, Astrid C J Nooyens, Preciosa M Coloma, Margot W M de Waal, Marjan van den Akker, Marion C J Biermans, Markus M J Nielen, Kees van Boven, Hugo Smeets, Fiona E Matthews, Carol Brayne, Wim B Busschers, Willem A van Gool, Eric P Moll van Charante
BACKGROUND: Recent reports have suggested declining age-specific incidence rates of dementia in high-income countries over time. Improved education and cardiovascular health in early age have been suggested to be bringing about this effect. The aim of this study was to estimate the age-specific dementia incidence trend in primary care records from a large population in the Netherlands. METHODS AND FINDINGS: A dynamic cohort representative of the Dutch population was composed using primary care records from general practice registration networks (GPRNs) across the country...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28265399/reversible-dementia-subclinical-seizure-in-early-onset-dementia
#16
Elysia Tjong, William McHugh, Yen-Yi Peng
We report a case of early-onset dementia with subclinical seizures. Aggressive seizure control improved the patient's cognition. Commonly, an EEG is only performed following overt behavioral seizures. Therefore, subclinical seizures tend to be underdiagnosed. Serial or extended EEG should be seriously considered in patients with early-onset dementia.
March 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28258683/-patient-with-creutzfeld-jakob-disease-a-case-report
#17
Żanna Pastuszak, Kazimierz Tomczykiewicz, Adam Stępień, Renata Piusińska-Macoch, Joanna Klimczuk, Agnieszka Rolewska, Dariusz Galbarczyk
Creutzfeldt-Jakob disease (CJD) is a rare syndrome of central nervous system caused by infectious protein called prion. There are four types of CJD: sporadic (sCJD), familial (fCJD), jatrogenic (jCJD) and variant (vCJD). The most frequent symptoms are rapidly progressing dementia, mioclonias, akinetic mutism and signs of cerebellum dysfunction. In sCJD, MRI often shows high signal intensity in the putamen and caudate nucleus on T2-weighted images while in vCJD pulvinar sign is often observed. 70% patients with CJD often has characteristic generalized periodic sharp wave pattern in electroencephalography...
February 20, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28250555/personality-traits-in-the-siblings-and-children-of-patients-with-frontotemporal-dementia-a-questionnaire-based-study
#18
Suresh Kumar Korada, Sadanandavalli Retnaswami Chandra, Vivek Benegal, Meera Purushothaman, Mariamma Philip
INTRODUCTION: Frontotemporal dementias (FLD) form a group of relatively young onset, male dominant dementias with significant behavioral abnormalities early in the course of the disease. Routine assessment suggested preexisting traits such as lack of empathy, self-directedness, and persistence in most of these persons even before the onset of disease. Hence, we decided the study, the siblings and children of patients for any specific traits and correlation with hexanucleotide expansion repeats if any traits were identified...
January 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28247171/genetic-counseling-dilemmas-for-a-patient-with-sporadic-amyotrophic-lateral-sclerosis-frontotemporal-degeneration-parkinson-s-disease
#19
Vittorio Mantero, Claudia Tarlarini, Angelo Aliprandi, Giuseppe Lauria, Andrea Rigamonti, Lucia Abate, Paola Origone, Paola Mandich, Silvana Penco, Andrea Salmaggi
Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson's disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause...
March 1, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28246113/disseminated-cysticercosis-incidentally-diagnosed-in-a-patient-of-fracture-shaft-of-femur
#20
Noora Saeed, Aaliya Ehsan, Shaista M Vasenwala
Cysticercosis is caused by the larval form of Taenia solium tape worm, cysticercus cellulose. The life cycle of T. solium consists of 2 host, the definite host is a man who harbours the adult forms of the worm in the intestine, while the intermediate host is the pig, where the larval form (cysticercus cellulose) is found in the skeletal muscle. Cysticercosis develops when human beings incidentally become the intermediate host and the eggs mature within their small intestine. The route of entry of the eggs into the human intestine may occur through autoinfection or by ingestion of contaminated food or water...
February 28, 2017: BMJ Case Reports
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