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https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#1
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28419566/perirhinal-accumulation-of-neuronal-alpha-synuclein-in-a-multiple-system-atrophy-patient-with-dementia
#2
Mari Saito, Makoto Hara, Momoko Ebashi, Akihiko Morita, Kyoko Okada, Taku Homma, Masahiko Sugitani, Kentaro Endo, Toshiki Uchihara, Satoshi Kamei
We report the case of a 79-year-old Japanese woman who developed cerebellar ataxia followed by rigidity, dysautonomia and cognitive disorders, and was thus clinically diagnosed as having possible MSA with dementia. Neuropathological findings demonstrated not only olivopontocerebellar and striatonigral degeneration with frequent glial cytoplasmic inclusions (GCIs), but also degenerative changes in the parahippocampal region, accentuated in the anterior portion of perirhinal cortex, where neuronal cytoplasmic inclusions (NCIs) and NFTs were numerous while GCIs were limited...
April 16, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28412481/environmental-and-clinical-risk-factors-for-delirium-in-a-neurosurgical-center-a-prospective-study
#3
Fumihiro Matano, Takayuki Mizunari, Keiko Yamada, Shiro Kobayashi, Yasuo Murai, Akio Morita
INTRODUCTION: Few reports of delirium-related risk factors have focused on environmental risk factors and clinical risk factors, such as white matter signal abnormalities on magnetic resonance imaging (MRI) FLAIR images. MATERIAL & METHODS: We prospectively enrolled 253 patients admitted to our neurosurgical center between December 2014 and June 2015 and analyzed a total of 220 patients (100 males; mean age, 64.1 years; age range, 17-92 years). The upper 4 points of the Intensive Care Delirium Screening Checklist (ICDSC) indicated delirium...
April 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28410350/education-socioeconomic-status-and-intelligence-in-childhood-and-stroke-risk-in-later-life-a-meta-analysis
#4
Caroline A McHutchison, Ellen V Backhouse, Vera Cvoro, Susan D Shenkin, Joanna M Wardlaw
BACKGROUND: Stroke is the second most common cause of death, and a common cause of dependency and dementia. Adult vascular risk factors and socioeconomic status (SES) are associated with increased risk, but less is known about early life risk factors, such as education, childhood SES, or intelligence (IQ). METHODS: We comprehensively searched Medline, PsycINFO and EMBASE from inception to November 2015. We included all studies reporting data on >50 strokes examining childhood/premorbid IQ, SES, and education...
April 7, 2017: Epidemiology
https://www.readbyqxmd.com/read/28408880/a-bayesian-model-for-the-prediction-and-early-diagnosis-of-alzheimer-s-disease
#5
Athanasios Alexiou, Vasileios D Mantzavinos, Nigel H Greig, Mohammad A Kamal
Alzheimer's disease treatment is still an open problem. The diversity of symptoms, the alterations in common pathophysiology, the existence of asymptomatic cases, the different types of sporadic and familial Alzheimer's and their relevance with other types of dementia and comorbidities, have already created a myth-fear against the leading disease of the twenty first century. Many failed latest clinical trials and novel medications have revealed the early diagnosis as the most critical treatment solution, even though scientists tested the amyloid hypothesis and few related drugs...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28407792/treatment-of-post-anesthesia-dementia-with-perispinal-etanercept-injection-and-hyperbaric-oxygen-therapy-a-case-report
#6
Steve Best, Dan G Pavel
BACKGROUND: We report on the first case of successful treatment for post-anesthesia dementia with perispinal etanercept injection combined with hyperbaric oxygen therapy. CASE PRESENTATION: Our patient was a 77-year-old Caucasian man of Mexican ethnicity who presented to our clinic 4.5 years after a knee replacement surgery. Immediately post-surgery, the patient began to show dramatic cognitive, physical, and emotional impairment compared with his presurgical state; these symptoms were still present when he arrived at our clinic...
April 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28405088/dural-arteriovenous-fistula-as-a-treatable-dementia
#7
Ikponmwosa Enofe, Ike Thacker, Sadat Shamim
Dementia is a chronic loss of neurocognitive function that is progressive and irreversible. Although rare, dural arteriovenous fistulas (DAVFs) could present with a rapid decline in neurocognitive function with or without Parkinson-like symptoms. DAVFs represent a potentially treatable and reversible cause of dementia. Here, we report the case of an elderly woman diagnosed with a DAVF after presenting with new-onset seizures, deteriorating neurocognitive function, and Parkinson-like symptoms.
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28387812/gene-based-association-studies-report-genetic-links-for-clinical-subtypes-of-frontotemporal-dementia
#8
Aniket Mishra, Raffaele Ferrari, Peter Heutink, John Hardy, Yolande Pijnenburg, Danielle Posthuma
Genome-wide association studies in frontotemporal dementia showed limited success in identifying associated loci. This is possibly due to small sample size, allelic heterogeneity, small effect sizes of single genetic variants, and the necessity to statistically correct for testing millions of genetic variants. To overcome these issues, we performed gene-based association studies on 3348 clinically identified frontotemporal dementia cases and 9390 controls (discovery, replication and joint-cohort analyses). We report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia...
April 5, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28387667/positive-and-negative-experiences-of-social-support-and-risk-of-dementia-in-later-life-an-investigation-using-the-english-longitudinal-study-of-ageing
#9
Mizanur Khondoker, Snorri Bjorn Rafnsson, Stephen Morris, Martin Orrell, Andrew Steptoe
BACKGROUND: Having a network of close relationships may reduce the risk of developing dementia. However, social exchange theory suggests that social interaction entails both rewards and costs. The effects of quality of close social relationships in later life on the risk of developing dementia are not well understood. OBJECTIVE: To investigate the effects of positive and negative experiences of social support within key relationships (spouse or partner, children, other immediate family, and friends) on the risk of developing dementia in later life...
April 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28387593/a-case-of-posterior-cortical-atrophy-with-vertical-neglect
#10
Hilary Glazer, Leila Saadatpour, Leilani Doty, Kenneth M Heilman
Posterior cortical atrophy (PCA) is a syndrome caused by a neurodegenerative disease that often presents with visuospatial deficits, and can be debilitating. PCA is often characterized by elements of Balint's syndrome and dyslexia. The most common underlying pathology has been found to be Alzheimer's disease. Signs of horizontal neglect are frequently associated with PCA, but the presence of vertical (or altitudinal) neglect has not yet been reported in a patient with PCA or other forms of neurodegenerative dementia...
April 7, 2017: Neurocase
https://www.readbyqxmd.com/read/28382615/a-case-of-multiple-system-atrophy-with-preexisting-alzheimer-s-disease-and-predating-the-hot-cross-bun-sign
#11
Chi-Wei Lin, Chi-Yu Tseng, Chung-Ping Lo, Min-Chien Tu
PURPOSE: Synucleinopathy, tauopathy and amyloidopathy were classified as distinct clinical and pathological entities in traditional classification systems, and their interactions have been studied on neuropathology and molecular genetics recently. CASE REPORT: In this report, we present a 69-year-old male patient who had been diagnosed with probable Alzheimer's disease (AD) dementia due to progressive forgetfulness in February 2013. His Mini- Mental State Examination score was 21/30, and his Cognitive Abilities Screening Instrument score was 78/100, resulted from profound deficits in recent memory and abstract thinking domains...
December 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/28379416/absence-of-alzheimer-disease-neuropathologic-changes-in-eyes-of-subjects-with-alzheimer-disease
#12
Erik A Williams, Declan McGuone, Matthew P Frosch, Bradley T Hyman, Nora Laver, Anat Stemmer-Rachamimov
Alzheimer disease (AD) is the most common cause of dementia in the elderly, and is characterized by extracellular deposition of β-amyloid and intracellular accumulation of hyperphosphorylated tau protein in the brain. These pathologic findings are identified postmortem. Various visual deficits in AD have been reported and there have been conflicting reports, through imaging and pathology studies, regarding the presence of changes in the globe that mirror Alzheimer changes in the brain. Moreover, both macular degeneration and glaucoma have been variously characterized as having AD-related features...
March 30, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28350817/differential-associations-of-plasma-lipids-with-incident-dementia-and-dementia-subtypes-in-the-3c-study-a-longitudinal-population-based-prospective-cohort-study
#13
Sabrina Schilling, Christophe Tzourio, Aïcha Soumaré, Sara Kaffashian, Jean-François Dartigues, Marie-Laure Ancelin, Cécilia Samieri, Carole Dufouil, Stéphanie Debette
BACKGROUND: Vascular risk factors have been proposed as important targets for the prevention of dementia. As lipid fractions represent easily modifiable targets, we examined the longitudinal relationship of baseline lipid fractions with 13-y incident dementia and its subtypes (Alzheimer disease [AD] and mixed or vascular dementia) in older community-dwelling persons. METHODS AND FINDINGS: Non-institutionalized persons aged 65+ y (n = 9,294) were recruited for the Three-City Study (3C Study), a population-based cohort study from the electoral rolls of the cities of Dijon, Bordeaux, and Montpellier, France, between March 1999 and March 2001...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28339400/a-systematic-review-of-the-huntington-disease-like-2-phenotype
#14
David G Anderson, Ruth H Walker, Myles Connor, Jonathan Carr, Russell L Margolis, Amanda Krause
BACKGROUND: Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. OBJECTIVE: The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases...
2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28334843/a152t-tau-allele-causes-neurodegeneration-that-can-be-ameliorated-in-a-zebrafish-model-by-autophagy-induction
#15
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...
April 1, 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
#16
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
#17
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
#18
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
#19
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
#20
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
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