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Rapid progressive dementia

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https://www.readbyqxmd.com/read/28631971/rapidly-progressive-dementia-an-unusual-cause
#1
Aastha Takkar, Veenu Singla, Manish Modi, Vivek Gupta, Manoj K Goyal, Vivek Lal
Brain metastases are known to be present with a history of increased intra-cranial pressure headache, seizures or altered sensorium. Corresponding to the clinical brain metastases are the most feared complication of a systemic cancer. Classically, brain metastases are associated with significant morbidity and are known to present with a history of increased intracranial pressure headache, seizures or altered sensorium. Neuroimaging is usually suggestive of massive peri-lesional edema and mass effect surrounding the space occupying lesions...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28626409/hiv-associated-cerebellar-dysfunction-and-improvement-with-aminopyridine-therapy-a-case-report
#2
Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar
Apart from infectious causes and cerebellar dysfunction associated with acquired immune deficiency syndrome dementia or HIV-associated neurocognitive disorder, cerebellar dysfunction in HIV-positive individuals has been ascribed to granule cell neuronopathy as well as primary cerebellar atrophy without identifiable etiology. We report the case of a patient with progressive cerebellar dysfunction as the primary manifestation of HIV infection. No symptom improvement was seen under combination antiretroviral therapy, which had been established upon diagnosis, but the patient improved rapidly under 4-aminopyridine treatment, which was recommended 1 year later...
May 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/28620158/clinical-features-and-sleep-analysis-of-chinese-patients-with-fatal-familial-insomnia
#3
Liyong Wu, Hui Lu, Xianling Wang, Jia Liu, Chaoyang Huang, Jing Ye, Cuijiang Li, Jun Lu, Yuping Wang, Jianping Jia, Shuqin Zhan
This study aimed to examine clinical features, sleep, abnormal sleep-wake transition and non-sleep disturbances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects. Patients with confirmed clinical and laboratory diagnosis of FFI have been retrospectively reviewed. The clinical features and the results of the complementary tests, including polysomnography (PSG), brain imaging and genetic analysis, were used. Two male and three female patients were recruited in this study. Three of the five patients had more comprehensive family medical records...
June 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28602509/neurochip-an-updated-version-of-the-neurox-genotyping-platform-to-rapidly-screen-for-variants-associated-with-neurological-diseases
#4
Cornelis Blauwendraat, Faraz Faghri, Lasse Pihlstrom, Joshua T Geiger, Alexis Elbaz, Suzanne Lesage, Jean-Christophe Corvol, Patrick May, Aude Nicolas, Yevgeniya Abramzon, Natalie A Murphy, J Raphael Gibbs, Mina Ryten, Raffaele Ferrari, Jose Bras, Rita Guerreiro, Julie Williams, Rebecca Sims, Steven Lubbe, Dena G Hernandez, Kin Y Mok, Laurie Robak, Roy H Campbell, Ekaterina Rogaeva, Bryan J Traynor, Ruth Chia, Sun Ju Chung, John A Hardy, Alexis Brice, Nicholas W Wood, Henry Houlden, Joshua M Shulman, Huw R Morris, Thomas Gasser, Rejko Krüger, Peter Heutink, Manu Sharma, Javier Simón-Sánchez, Mike A Nalls, Andrew B Singleton, Sonja W Scholz
Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk variants. Previously, we introduced the NeuroX Illumina genotyping array, a fast and efficient genotyping platform designed for the investigation of genetic variation in neurodegenerative diseases. Here, we present its updated version, named NeuroChip. The NeuroChip is a low-cost, custom-designed array containing a tagging variant backbone of about 306,670 variants complemented with a manually curated custom content comprised of 179,467 variants implicated in diverse neurological diseases, including Alzheimer's disease, Parkinson's disease, Lewy body dementia, amyotrophic lateral sclerosis, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, and multiple system atrophy...
May 17, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28556688/severe-and-rapidly-progressive-lafora-disease-associated-with-nhlrc1-mutation-a-case-report
#5
Sara Casciato, Stefano Gambardella, Addolorata Mascia, Pier Paolo Quarato, Alfredo D'Aniello, Yana Ackurina, Veronica Albano, Francesco Fornai, Simona Scala, Giancarlo Di Gennaro
Lafora disease (LD), also known as progressive myoclonic epilepsy-2 (EPM2), is a rare, fatal autosomal recessive disorder typically starting during adolescence in otherwise neurologically normal individuals. It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia. Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct...
June 12, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28549449/fatal-familial-insomnia-with-abnormal-signals-on-routine-mri-a-case-report-and-literature-review
#6
Tingting Lu, Yuhang Pan, Lisheng Peng, Feng Qin, Xiaobo Sun, Zhengqi Lu, Wei Qiu
BACKGROUND: Fatal familial insomnia (FFI) is a rare autosomal dominant disease caused by the PRNP D178N/129 M mutation. Routine brain CT and MRI usually reveal non-specific features. We report a patient with FFI presenting with diffuse abnormal signals on MRI, later confirmed as combined with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). CASE PRESENTATION: The patient was a 58-year-old female, whose main clinical manifestations were insomnia, movement disorders, autonomic hyperactivity and mental deterioration...
May 26, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28509083/detection-of-csf-14-3-3-protein-in-sporadic-creutzfeldt-jakob-disease-patients-using-a-new-automated-capillary-western-assay
#7
A Fourier, A Dorey, A Perret-Liaudet, I Quadrio
Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal rapidly progressive dementia. The detection of 14-3-3 protein in cerebrospinal fluid (CSF) is included in the WHO diagnostic criteria for the pre-mortem diagnosis of CJD. The aim of this study is to assess CSF 14-3-3 protein analytical and diagnostic performances using a new automated capillary Western technology (Simple Western technology-SW). For the validation of this assay, samples from a cohort of 268 patients suspected from sCJD were analyzed: 77 sCJD (including 40 definite sCJD) and 191 non-CJD samples were tested using both SW and the current Western Blot (WB) assays...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28505974/state-of-play-in-alzheimer-s-disease-genetics
#8
Jin-Bao Zhu, Chen-Chen Tan, Lan Tan, Jin-Tai Yu
Alzheimer's disease (AD), the main form of dementia in the elderly, is the most common progressive neurodegenerative disease characterized by rapidly progressive cognitive dysfunction and behavior impairment. AD exhibits a considerable heritability and great advances have been made in approaches to searching the genetic etiology of AD. In AD genetic studies, methods have developed from classic linkage-based and candidate-gene-based association studies to genome-wide association studies (GWAS) and next generation sequencing (NGS)...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28501143/do-we-know-how-to-diagnose-epilepsy-early-in-alzheimer-s-disease
#9
REVIEW
B Cretin, N Philippi, O Bousiges, L Dibitonto, F Sellal, C Martin-Hunyadi, F Blanc
Epilepsy is an increasingly recognized comorbidity in Alzheimer's disease (AD). First described as generalized in dementia patients, epileptic AD patients are nowadays fully described in earlier stages of the disease (with mild or subjective cognitive impairment). At such early stages, patients may present not only with generalized seizures, but also with focal seizures (commonly localized in the frontal or temporal lobe). Thus, partial or generalized epilepsy is part of the semiological spectrum of AD that should be borne in mind at all stages of disease to ensure early identification and prevent the risk of repeated seizures (such as accidents, injury, progression of cognitive impairment)...
May 10, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28491313/positron-emission-tomography-imaging-in-a-case-of-e200k-mutation-related-spongiform-encephalopathy-with-non-diagnostic-magnetic-resonance-imaging-and-cerebrospinal-fluid-testing
#10
Pravin George, Christopher R Newey, Karin P Mente, Erik P Pioro
OBJECTIVE: Creutzfeldt-Jakob disease is a rapidly progressive spongiform encephalopathy. The E200K mutation is found in a majority of genetically transmitted Creutzfeldt-Jakob disease cases. METHODS: We describe the case and associated neuroimaging of an E200K-129M gene-mutation-related fatal spongiform encephalopathy with resultant clinical insomnia and thalamic changes. RESULTS: A 46-year-old Caucasian male presented with, who was well until 2 months prior to admission, a rapidly progressive dementia followed by a change in personality with auditory and visual hallucinations...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28481984/the-dna-damage-response-ddr-is-induced-by-the-c9orf72-repeat-expansion-in-amyotrophic-lateral-sclerosis
#11
Manal A Farg, Anna Konopka, Kai Ying Soo, Daisuke Ito, Julie D Atkin
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease affecting motor neurons. Hexanucleotide (GGGGCC) repeat expansions in a non-coding region of C9orf72 are the major cause of familial ALS and frontotemporal dementia (FTD) worldwide. The C9orf72 repeat expansion undergoes repeat-associated non-ATG (RAN) translation to produce five dipeptide repeat proteins (DRPs), including poly(GR) and poly(PR). Whilst it remains unclear how mutations in C9orf72 lead to neurodegeneration in ALS/FTD, dysfunction to the nucleolus and R loop formation are implicated as pathogenic mechanisms...
May 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28449849/alzheimer-s-disease-in-primary-care-the-significance-of-early-detection-diagnosis-and-intervention
#12
Lawrence Herman, Alireza Atri, Stephen Salloway
The field of Alzheimer's disease (AD) is undergoing a profound and rapid change: clinical trials have been redesigned to focus on individuals in the earliest stages of the disease and are including more sensitive measurement tools to better capture changes in cognition and other outcomes. (Online access: http://courses.elseviercme.com/adwebcast/674 ). Trial participants undergo PET imaging for amyloid load as a hallmark for dementia, as well as genetic testing to determine likelihood of disease progression and response to therapeutic intervention...
April 24, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28441414/regional-early-and-progressive-loss-of-brain-pericytes-but-not-vascular-smooth-muscle-cells-in-adult-mice-with-disrupted-platelet-derived-growth-factor-receptor-%C3%AE-signaling
#13
Angeliki Maria Nikolakopoulou, Zhen Zhao, Axel Montagne, Berislav V Zlokovic
Pericytes regulate key neurovascular functions of the brain. Studies in pericyte-deficient transgenic mice with aberrant signaling between endothelial-derived platelet-derived growth factor BB (PDGF-BB) and platelet-derived growth factor receptor β (PDGFRβ) in pericytes have contributed to better understanding of the role of pericytes in the brain. Here, we studied PdgfrβF7/F7 mice, which carry seven point mutations that disrupt PDGFRβ signaling causing loss of pericytes and vascular smooth muscle cells (VSMCs) in the developing brain...
2017: PloS One
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#14
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28405088/dural-arteriovenous-fistula-as-a-treatable-dementia
#15
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/28405022/therapeutic-reduction-of-ataxin-2-extends-lifespan-and-reduces-pathology-in-tdp-43-mice
#16
Lindsay A Becker, Brenda Huang, Gregor Bieri, Rosanna Ma, David A Knowles, Paymaan Jafar-Nejad, James Messing, Hong Joo Kim, Armand Soriano, Georg Auburger, Stefan M Pulst, J Paul Taylor, Frank Rigo, Aaron D Gitler
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease that is characterized by motor neuron loss and that leads to paralysis and death 2-5 years after disease onset. Nearly all patients with ALS have aggregates of the RNA-binding protein TDP-43 in their brains and spinal cords, and rare mutations in the gene encoding TDP-43 can cause ALS. There are no effective TDP-43-directed therapies for ALS or related TDP-43 proteinopathies, such as frontotemporal dementia. Antisense oligonucleotides (ASOs) and RNA-interference approaches are emerging as attractive therapeutic strategies in neurological diseases...
April 20, 2017: Nature
https://www.readbyqxmd.com/read/28375912/disorders-of-taste-and-smell
#17
Ronald DeVere
PURPOSE OF REVIEW: This article aims to educate clinical neurologists on the importance of taste and smell disorders in clinical neurology. These disorders commonly occur in head trauma, multiple sclerosis, seizure disorders, and neurodegenerative diseases such as idiopathic Parkinson disease and dementia, mild cognitive impairment, and Alzheimer disease, just to name a few. This article covers the basic anatomy of smell and taste, notes the important points of taking a proper history, and discusses smell and taste testing, which are inexpensive, minimally time-consuming procedures...
April 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28348546/dementia-with-lewy-bodies-molecular-pathology-in-the-frontal-cortex-in-typical-and-rapidly-progressive-forms
#18
Paula Garcia-Esparcia, Irene López-González, Oriol Grau-Rivera, María Francisca García-Garrido, Anusha Konetti, Franc Llorens, Saima Zafar, Margarita Carmona, José Antonio Del Rio, Inga Zerr, Ellen Gelpi, Isidro Ferrer
OBJECTIVES: The goal of this study was to assess mitochondrial function, energy, and purine metabolism, protein synthesis machinery from the nucleolus to the ribosome, inflammation, and expression of newly identified ectopic olfactory receptors (ORs) and taste receptors (TASRs) in the frontal cortex of typical cases of dementia with Lewy bodies (DLB) and cases with rapid clinical course (rpDLB: 2 years or less) compared with middle-aged non-affected individuals, in order to learn about the biochemical abnormalities underlying Lewy body pathology...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28320296/biological-basis-for-amyloidogenesis-in-alzheimer-s-disease
#19
REVIEW
T V Andreeva, W J Lukiw, E I Rogaev
Certain cellular proteins normally soluble in the living organism under certain conditions form aggregates with a specific cross-β sheet structure called amyloid. These intra- or extracellular insoluble aggregates (fibers or plaques) are hallmarks of many neurodegenerative pathologies including Alzheimer's disease (AD), Huntington's disease, Parkinson's disease, prion disease, and other progressive neurological diseases that develop in the aging human central nervous system. Amyloid diseases (amyloidoses) are widespread in the elderly human population, a rapidly expanding demographic in many global populations...
February 2017: Biochemistry. Biokhimii︠a︡
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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