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https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#1
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28228714/narrative-organization-deficit-in-lewy-body-disorders-is-related-to-alzheimer-pathology
#2
Murray Grossman, David J Irwin, Charles Jester, Amy Halpin, Sharon Ash, Katya Rascovsky, Daniel Weintraub, Corey T McMillan
Background: Day-to-day interactions depend on conversational narrative, and we examine here the neurobiological basis for difficulty organizing narrative discourse in patients with Lewy body disorders (LBD). Method: Narrative organization was examined in 56 non-aphasic LBD patients, including a non-demented cohort (n = 30) with Parkinson's disease (PD) or PD-Mild Cognitive Impairment PD-MCI,) and a cohort with mild dementia (n = 26) including PD-dementia (PDD) and dementia with Lewy bodies (DLB), with similar age and education but differing in MMSE (p < 0...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28223932/cerebrospinal-fluid-levels-of-amyloid-beta-1-43-mirror-1-42-in-relation-to-imaging-biomarkers-of-alzheimer-s-disease
#3
Ina S Almdahl, Camilla Lauridsen, Per Selnes, Lisa F Kalheim, Christopher Coello, Beata Gajdzik, Ina Møller, Marianne Wettergreen, Ramune Grambaite, Atle Bjørnerud, Geir Bråthen, Sigrid B Sando, Linda R White, Tormod Fladby
Introduction: Amyloid beta 1-43 (Aβ43), with its additional C-terminal threonine residue, is hypothesized to play a role in early Alzheimer's disease pathology possibly different from that of amyloid beta 1-42 (Aβ42). Cerebrospinal fluid (CSF) Aβ43 has been suggested as a potential novel biomarker for predicting conversion from mild cognitive impairment (MCI) to dementia in Alzheimer's disease. However, the relationship between CSF Aβ43 and established imaging biomarkers of Alzheimer's disease has never been assessed...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28220718/the-big-imitator-strikes-again-a-case-report-of-neurosyphilis-in-a-patient-with-newly-diagnosed-hiv
#4
Sévérine de Bruijn, Chris Kenyon, Nicolas Léonard, Erika Vlieghe
BACKGROUND: Neurosyphilis is the result of an infection of the central nervous system caused by the spirochete Treponema pallidum. Its clinical presentation includes meningovascular syphilis, tabes dorsalis, and dementia paralytica, resulting in a wide range of symptoms such as psychosis, Parkinsonism, and depression. CASE REPORT: A 49-year-old male was admitted to a psychiatric hospital because of social withdrawal and self-neglect, indicative of a major depression...
February 21, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28220065/prediction-of-mild-cognitive-impairment-conversion-using-a-combination-of-independent-component-analysis-and-the-cox-model
#5
Ke Liu, Kewei Chen, Li Yao, Xiaojuan Guo
Mild cognitive impairment (MCI) represents a transitional stage from normal aging to Alzheimer's disease (AD) and corresponds to a higher risk of developing AD. Thus, it is necessary to explore and predict the onset of AD in MCI stage. In this study, we propose a combination of independent component analysis (ICA) and the multivariate Cox proportional hazards regression model to investigate promising risk factors associated with MCI conversion among 126 MCI converters and 108 MCI non-converters from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28219319/biomarkers-in-alzheimer-s-disease-recent-update
#6
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/28210220/mri-based-classification-models-in-prediction-of-mild-cognitive-impairment-and-dementia-in-late-life-depression
#7
Aleksandra K Lebedeva, Eric Westman, Tom Borza, Mona K Beyer, Knut Engedal, Dag Aarsland, Geir Selbaek, Asta K Haberg
Objective: Late-life depression (LLD) is associated with development of different types of dementia. Identification of LLD patients, who will develop cognitive decline, i.e., the early stage of dementia would help to implement interventions earlier. The purpose of this study was to assess whether structural brain magnetic resonance imaging (MRI) in LLD patients can predict mild cognitive impairment (MCI) or dementia 1 year prior to the diagnosis. Methods: LLD patients underwent brain MRI at baseline and repeated clinical assessment after 1-year...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28187125/aerobic-exercise-for-alzheimer-s-disease-a-randomized-controlled-pilot-trial
#8
Jill K Morris, Eric D Vidoni, David K Johnson, Angela Van Sciver, Jonathan D Mahnken, Robyn A Honea, Heather M Wilkins, William M Brooks, Sandra A Billinger, Russell H Swerdlow, Jeffrey M Burns
BACKGROUND: There is increasing interest in the role of physical exercise as a therapeutic strategy for individuals with Alzheimer's disease (AD). We assessed the effect of 26 weeks (6 months) of a supervised aerobic exercise program on memory, executive function, functional ability and depression in early AD. METHODS AND FINDINGS: This study was a 26-week randomized controlled trial comparing the effects of 150 minutes per week of aerobic exercise vs. non-aerobic stretching and toning control intervention in individuals with early AD...
2017: PloS One
https://www.readbyqxmd.com/read/28180077/multicenter-stability-of-resting-state-fmri-in-the-detection-of-alzheimer-s-disease-and-amnestic-mci
#9
Stefan J Teipel, Alexandra Wohlert, Coraline Metzger, Timo Grimmer, Christian Sorg, Michael Ewers, Eva Meisenzahl, Stefan Klöppel, Viola Borchardt, Michel J Grothe, Martin Walter, Martin Dyrba
BACKGROUND: In monocentric studies, patients with mild cognitive impairment (MCI) and Alzheimer's disease (AD) dementia exhibited alterations of functional cortical connectivity in resting-state functional MRI (rs-fMRI) analyses. Multicenter studies provide access to large sample sizes, but rs-fMRI may be particularly sensitive to multiscanner effects. METHODS: We used data from five centers of the "German resting-state initiative for diagnostic biomarkers" (psymri...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28180075/independent-value-added-by-diffusion-mri-for-prediction-of-cognitive-function-in-older-adults
#10
Julia A Scott, Duygu Tosun, Meredith N Braskie, Pauline Maillard, Paul M Thompson, Michael Weiner, Charles DeCarli, Owen T Carmichael
The purpose of this study was to determine whether white matter microstructure measured by diffusion magnetic resonance imaging (dMRI) provides independent information about baseline level or change in executive function (EF) or memory (MEM) in older adults with and without cognitive impairment. Longitudinal data was acquired from the Alzheimer's Disease Neuroimaging Initiative (ADNI) study from phases GO and 2 (2009-2015). ADNI participants included were diagnosed as cognitively normal (n = 46), early mild cognitive impairment (MCI) (n = 48), late MCI (n = 29), and dementia (n = 39) at baseline...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28178960/ultrasound-and-dynamic-functional-imaging-in-vascular-cognitive-impairment-and-alzheimer-s-disease
#11
REVIEW
Branko Malojcic, Panteleimon Giannakopoulos, Farzaneh A Sorond, Elsa Azevedo, Marina Diomedi, Janja Pretnar Oblak, Nicola Carraro, Marina Boban, Laszlo Olah, Stephan J Schreiber, Aleksandra Pavlovic, Zsolt Garami, Nantan M Bornstein, Bernhard Rosengarten
BACKGROUND: The vascular contributions to neurodegeneration and neuroinflammation may be assessed by magnetic resonance imaging (MRI) and ultrasonography (US). This review summarises the methodology for these widely available, safe and relatively low cost tools and analyses recent work highlighting their potential utility as biomarkers for differentiating subtypes of cognitive impairment and dementia, tracking disease progression and evaluating response to treatment in various neurocognitive disorders...
February 9, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28166312/association-between-subclinical-cardiac-biomarkers-and-clinically-manifest-cardiac-diseases-with-cortical-cerebral-microinfarcts
#12
Saima Hilal, Yuek Ling Chai, Susanne van Veluw, Muhammad Amin Shaik, Mohammad Kamran Ikram, Narayanaswamy Venketasubramanian, Arthur Mark Richards, Geert Jan Biessels, Christopher Chen
Importance: Subclinical and clinical cardiac diseases have been previously linked to magnetic resonance imaging (MRI) manifestations of cerebrovascular disease, such as lacunes and white matter hyperintensities, as well as dementia. Cortical cerebral microinfarcts (CMIs), a novel MRI marker of cerebral vascular disease, have not been studied, to date, in relation to subclinical and clinical cardiac diseases. Objective: To examine the association of blood biomarkers of subclinical cardiac disease and clinically manifest cardiac diseases with CMIs graded on 3-T MRI in a memory clinic population...
February 6, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28165615/brain-mri-markers-associate-differentially-with-cognitive-versus-functional-decline-leading-to-dementia
#13
Vincentius J A Verlinden, Jos N van der Geest, Albert Hofman, Wiro J Niessen, Aad van der Lugt, Meike W Vernooij, M Arfan Ikram
BACKGROUND: Brain MRI-markers are risk factors of dementia and decline in cognition and daily functioning. It is unknown to what extent the associations of brain MRI-markers with cognition and daily functioning are part of the pathway leading to dementia. We aimed to investigate associations of brain MRI-markers with change in cognition and daily functioning during 15 years of follow-up, including their relation to dementia. DESIGN, SETTING, AND PARTICIPANTS: Four hundred and sixty three stroke-free and non-demented participants from the population-based Rotterdam Study that underwent brain-MRI, yielding brain volumetrics, between 1995 and 1996...
February 6, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28153848/cjd-mimics-and-chameleons
#14
REVIEW
Simon Mead, Peter Rudge
Rapidly progressive dementia mimicking Creutzfeldt-Jakob disease (CJD) is a relatively rare presentation but a rewarding one to become familiar with, as the potential diagnoses range from the universally fatal to the completely reversible. Patients require urgent decisions about assessment and investigation and have quickly evolving needs for treatments and support, through symptom management and end-of-life care in most cases. We have based this pragmatic review on the experiences of a specialist prion referral centre in the UK, which, unsurprisingly, is strongly biased towards seeing patients with CJD...
February 2, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28149943/the-apoe-%C3%AE%C2%B54-genotype-modulates-csf-ykl-40-levels-and-their-structural-brain-correlates-in-the-continuum-of-alzheimer-s-disease-but-not-those-of-strem2
#15
Juan Domingo Gispert, Gemma C Monté, Marc Suárez-Calvet, Carles Falcon, Alan Tucholka, Santiago Rojas, Lorena Rami, Raquel Sánchez-Valle, Albert Lladó, Gernot Kleinberger, Christian Haass, José Luis Molinuevo
INTRODUCTION: Among other metabolic functions, the apolipoprotein E (APOE) plays a crucial role in neuroinflammation. We aimed at assessing whether APOE ε4 modulates levels of glial cerebrospinal fluid (CSF) biomarkers and their structural cerebral correlates along the continuum of Alzheimer's disease (AD). METHODS: Brain magnetic resonance imaging (MRI) scans were acquired in 110 participants (49 control; 19 preclinical; 27 mild cognitive impairment [MCI] due to AD; 15 mild AD dementia) and CSF concentrations of YKL-40 and sTREM2 were determined...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28131236/regional-volumetric-change-in-parkinson-s-disease-with-cognitive-decline
#16
Myrlene Gee, Juergen Dukart, Bogdan Draganski, W R Wayne Martin, Derek Emery, Richard Camicioli
BACKGROUND: Parkinson's disease (PD), characterized by motor dysfunction and cognitive decline, may demonstrate specific patterns of brain atrophy. Although cross-sectional magnetic resonance imaging (MRI) studies show correlation between regional brain volume loss and cognitive impairment, there is only scarce evidence from longitudinal studies validating the link between cognition and brain anatomy in PD. OBJECTIVE: To test the relationship between magnitude and spatial extent of atrophy in PD patients with progressive, significant cognitive decline and dementia (PDD)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28131204/thalamic-involvement-determined-using-vsrad-advance-on-mri-and-easy-z-score-analysis-of-99m-tc-ecd-spect-in-gerstmann-str%C3%A3-ussler-scheinker-syndrome-with-p102l-mutation
#17
Atsuhiko Sugiyama, Noriko Sato, Yukio Kimura, Tomoko Maekawa, Noritaka Wakasugi, Daichi Sone, Mikako Enokizono, Yuji Takahashi, Miho Murata, Hidehiro Mizusawa, Hiroshi Matsuda
Gerstmann-Sträussler-Scheinker syndrome caused by the P102L mutation in the prion protein gene (GSS102) is usually characterized by the onset of slowly progressive cerebellar ataxia, with dementia occurring much later. Because of the relatively long disease course and the prominence of progressive cerebellar ataxia in the early stage, GSS102 is often misdiagnosed as other neurodegenerative disorders. We present two cases of genetically proven GSS102L, both of which present with atrophy and decreased blood flow of the thalamus as determined by voxel-based specific regional analysis system for Alzheimer's disease (VSRAD) advance software and easy Z-score analysis for (99m)Tc-ethyl cysteinate dimer-SPECT, respectively...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28130473/frontotemporal-dementia-with-the-v337m-mapt-mutation-tau-pet-and-pathology-correlations
#18
Salvatore Spina, Daniel R Schonhaut, Bradley F Boeve, William W Seeley, Rik Ossenkoppele, James P O'Neil, Andreas Lazaris, Howard J Rosen, Adam L Boxer, David C Perry, Bruce L Miller, Dennis W Dickson, Joseph E Parisi, William J Jagust, Melissa E Murray, Gil D Rabinovici
OBJECTIVE: To assess the efficacy of [(18)F]AV1451 PET in visualizing tau pathology in vivo in a patient with frontotemporal dementia (FTD) associated with the V337M microtubule-associated protein tau (MAPT) mutation. METHODS: MAPT mutations are associated with the deposition of hyperphosphorylated tau protein in neurons and glia. The PET tracer [(18)F]AV1451 binds with high affinity to paired helical filaments tau that comprises neurofibrillary tangles in Alzheimer disease (AD), while postmortem studies suggest lower or absent binding to the tau filaments of the majority of non-AD tauopathies...
January 27, 2017: Neurology
https://www.readbyqxmd.com/read/28126973/-neuronal-intranuclear-inclusion-disease
#19
Jun Sone, Gen Sobue
Neuronal intranuclear inclusion disease (NIID) is a gradually progressing neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and in certain visceral organs. The number of reported cases of NIID has recently increased after the introduction of skin biopsy for the diagnosis of NIID. Patients with sporadic NIID usually present with dementia, elevation of overall protein levels in the cerebrospinal fluid, leukoencephalopathy on head magnetic resonance imaging (MRI), and high signal intensity in the corticomedurally junction on a diffusion-weighted (DW) imaging...
January 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28119818/differential-diagnosis-of-mild-cognitive-impairment-and-alzheimer-s-disease-using-structural-mri-cortical-thickness-hippocampal-shape-hippocampal-texture-and-volumetry
#20
Lauge Sørensen, Christian Igel, Akshay Pai, Ioana Balas, Cecilie Anker, Martin Lillholm, Mads Nielsen
This paper presents a brain T1-weighted structural magnetic resonance imaging (MRI) biomarker that combines several individual MRI biomarkers (cortical thickness measurements, volumetric measurements, hippocampal shape, and hippocampal texture). The method was developed, trained, and evaluated using two publicly available reference datasets: a standardized dataset from the Alzheimer's Disease Neuroimaging Initiative (ADNI) and the imaging arm of the Australian Imaging Biomarkers and Lifestyle flagship study of ageing (AIBL)...
2017: NeuroImage: Clinical
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