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dementia case report

Chenhui Mao, Jing Gao, Liri Jin, Bin Peng, Yupu Guo
Neurosyphilis occurs in the late stage of systemic syphilis infection; early diagnosis and treatment are crucial to the prognosis. We review 3 autopsy cases with different subtypes of neurosyphilis, that is cases with meningovascular, general paresis, and a combination of the 2, respectively. We investigated the gross morphology and leptomeninges, vessels, cerebral cortex, white matter, brainstem, cerebellum, olfactory bulb and spinal cord microscopically. We found that meningovascular inflammation exists in both early and late phases of neurosyphilis, not only in the meningovascular subtype...
March 12, 2018: Journal of Neuropathology and Experimental Neurology
Hilary C Archbold, Kasey L Jackson, Ayush Arora, Kaitlin Weskamp, Elizabeth M-H Tank, Xingli Li, Roberto Miguez, Robert D Dayton, Sharon Tamir, Ronald L Klein, Sami J Barmada
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are progressive neurodegenerative disorders marked in most cases by the nuclear exclusion and cytoplasmic deposition of the RNA binding protein TDP43. We previously demonstrated that ALS-associated mutant TDP43 accumulates within the cytoplasm, and that TDP43 mislocalization predicts neurodegeneration. Here, we sought to prevent neurodegeneration in ALS/FTD models using selective inhibitor of nuclear export (SINE) compounds that target exportin-1 (XPO1)...
March 15, 2018: Scientific Reports
Hugo Botha, William G Mantyh, Melissa E Murray, David S Knopman, Scott A Przybelski, Heather J Wiste, Jonathan Graff-Radford, Keith A Josephs, Christopher G Schwarz, Walter K Kremers, Bradley F Boeve, Ronald C Petersen, Mary M Machulda, Joseph E Parisi, Dennis W Dickson, Val Lowe, Clifford R Jack, David T Jones
Predicting underlying pathology based on clinical presentation has historically proven difficult, especially in older cohorts. Age-related hippocampal sclerosis may account for a significant proportion of elderly participants with amnestic dementia. Advances in molecular neuroimaging have allowed for detailed biomarker-based phenotyping, but in the absence of antemortem markers of hippocampal sclerosis, cases of mixed pathology remain problematic. We evaluated the utility of 18F-FDG-PET to differentiate flortaucipir tau PET negative from flortaucipir positive amnestic mild cognitive impairment and dementia and used an autopsy confirmed cohort to test the hypothesis that hippocampal sclerosis might account for the observed pattern...
March 12, 2018: Brain: a Journal of Neurology
Deborah Wearne, Amanda Genetti, Sam Restifo, Alina Harriss
OBJECTIVES: We aim to explore the importance of early diagnosis of dementia with Lewy bodies in order to facilitate effective psychiatric management. We present a case where delayed diagnosis stemming from an atypical presentation illustrates the complex issues involved in identifying and treating this type of dementia. CONCLUSIONS: We discuss the difficulty of diagnosis of this disorder in the absence of obvious memory dysfunction or parkinsonian symptoms. We use the case to draw attention to the limited availability of certain investigations and treatment options in Australia...
March 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
Filipa Ladeira, Gonçalo Cação, Ana P Correia, Pedro S Pinto, Sara Cavaco, Manuel Melo-Pires, Isabel Alonso, Ricardo Taipa
No abstract text is available yet for this article.
March 9, 2018: Alzheimer Disease and Associated Disorders
Mary H Kosmidis, George S Vlachos, Costas A Anastasiou, Mary Yannakoulia, Efthimios Dardiotis, Georgios Hadjigeorgiou, Paraskevi Sakka, Eva Ntanasi, Nikolaos Scarmeas
INTRODUCTION: Study of the epidemiology of dementia to gain insight into putative predisposing and prophylactic factors is the first step toward establishing effective preventive and therapeutic strategies for this ever-growing public health problem. Relevant data in Greece are scattered and outdated. METHODS: We investigated dementia prevalence as part of a population-representative epidemiological study [Hellenic Longitudinal Investigation of Aging and Diet (HELIAD)] in 2 Greek regions...
March 9, 2018: Alzheimer Disease and Associated Disorders
Richard Salazar
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease is a prion disease characterized by rapidly progressive dementia, ataxia and myoclonus. Atypical phenotype masquerading as stroke, movement disorders or autoimmune encephalitis have been described. Here, I report a probable case of sCJD with an atypical presentation associated with anti-Zic4 antibody and review the literature of neuronal antibodies in CJD. CASE REPORT: A 70 year-old gentleman is admitted with a 2-month history of recurrent stroke-like symptoms associated with behavioral disturbances, gait ataxia and rapidly progressive dementia...
March 5, 2018: Clinical Neurology and Neurosurgery
Annie Lannuzel, Régine Edragas, Angéla Lackmy, Benoit Tressières, Véronique Pelonde, Mireille Edimo Nana Kaptué, Sylvie Mécharles, Alexis Demas, Billy François, Eavan McGovern, Marie Vidailhet, Bertrand Gaymard, Emmanuel Roze
BACKGROUND: A high prevalence of an atypical levodopa-resistant parkinsonism has been reported in the Caribbean island of Guadeloupe. These seminal observations have not been replicated or extended to neighbouring populations who share genetic and environmental characteristics. METHODS: To further characterise this atypical parkinsonism we prospectively investigated 305 consecutive patients with neurodegenerative parkinsonism in a community-based population from Guadeloupe and Martinique, a neighbouring French Caribbean island where the population has similar environmental and genetic backgrounds...
February 6, 2018: Journal of the Neurological Sciences
Jingshu Xu, Stephanie J Church, Stefano Patassini, Paul Begley, Katherine A B Kellett, Emma R L C Vardy, Richard D Unwin, Nigel M Hooper, Garth J S Cooper
Sporadic Alzheimer's disease (AD) is a neurodegenerative disorder that causes the most prevalent form of age-related dementia but its pathogenesis remains obscure. Altered regulation of metals, particularly pan-cerebral copper deficiency, and more regionally-localized perturbation of other metals, are prominent in AD brain although data on how these CNS perturbations are reflected in the peripheral bloodstream are inconsistent to date. To assess the potential use of metal dysregulation to generate biomarkers in AD, we performed a case-control study of seven essential metals and selenium, measured by inductively coupled plasma mass-spectrometry, in samples from AD and matched control cases...
March 7, 2018: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
Viorica Chelban, Ekawat Vichayanrat, Lucia Schottlaende, Valeria Iodice, Henry Houlden
The discovery of genetic links between alpha-synuclein and PD has opened unprecedented opportunities for research into a new group of diseases, now collectively known as synucleinopathies. Autonomic dysfunction, including cardiac sympathetic denervation, has been reported in familial forms of synucleinopathies that have Lewy bodies at the core of their pathogenesis. SNCA mutations and multiplications, LRRK2 disease with Lewy bodies as well as other common, sporadic forms of idiopathic PD, MSA, pure autonomic failure, and dementia with Lewy bodies have all been associated with dysautonomia...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Itsuki Hasegawa, Akitoshi Takeda, Hiroyuki Hatsuta, Yuki Kubo, Masahiko Ohsawa, Yuta Nakano, Takeshi Ikeuchi, Masato Hasegawa, Shigeo Murayama, Yoshiaki Itoh
Globular glial tauopathy (GGT) is a 4-repeat (4R) tauopathy in which 4R tau accumulates to form globular glial inclusions (GGIs), predominantly in oligodendroglia. To date, little has been reported on iron deposits in patients with GGT. We report a case of GGT with iron deposits in a 78-year-old woman presenting with an 8-year history of slowly progressing limb weakness and cognitive decline. Susceptibility-weighted imaging revealed a low signal intensity in the right precentral gyrus, suggesting iron deposition...
March 6, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
Almir Oliva Filho, Danielle Dias, Águida Miranda, Eduardo Hebling
AIMS: Myiasis is a disease caused by the invasion of tissues by larvae of flies. The aim of this study was to carry out a review of reported cases of oral and maxillofacial myiasis in older adults and to show a case report of oral myiasis in a 95-year-old frail man with severe Alzheimer's disease from Brazil. METHODS AND RESULTS: Between 1988 and 2017, 35 oral and maxillofacial myiasis cases were reported in older adults in English-language studies from PubMed and Lilacs databases...
March 5, 2018: Special Care in Dentistry
David Gibbes Miller, Rebecca Dresser, Scott Y H Kim
Authorising euthanasia and assisted suicide with advance euthanasia directives (AEDs) is permitted, yet debated, in the Netherlands. We focus on a recent controversial case in which a Dutch woman with Alzheimer's disease was euthanised based on her AED. A Dutch euthanasia review committee found that the physician performing the euthanasia failed to follow due care requirements for euthanasia and assisted suicide. This case is notable because it is the first case to trigger a criminal investigation since the 2002 Dutch euthanasia law was enacted...
March 3, 2018: Journal of Medical Ethics
Donghuan Lu, Karteek Popuri, Gavin Weiguang Ding, Rakesh Balachandar, Mirza Faisal Beg
Alzheimer's disease (AD) is one of the most common neurodegenerative diseases with a commonly seen prodromal mild cognitive impairment (MCI) phase where memory loss is the main complaint progressively worsening with behavior issues and poor self-care. However, not all individuals clinically diagnosed with MCI progress to AD. A fraction of subjects with MCI either progress to non-AD dementia or remain stable at the MCI stage without progressing to dementia. Although a curative treatment of AD is currently unavailable, it is extremely important to correctly identify the individuals in the MCI phase that will go on to develop AD so that they may benefit from a curative treatment when one becomes available in the near future...
February 21, 2018: Medical Image Analysis
Michel Goedert, Yoshiki Yamaguchi, Sushil K Mishra, Makoto Higuchi, Naruhiko Sahara
A pathological pathway leading from soluble, monomeric to insoluble, filamentous Tau, is believed to underlie human Tauopathies. Cases of frontotemporal dementia are caused by dominantly inherited mutations in MAPT , the Tau gene. They show that dysfunction of Tau protein is sufficient to cause neurodegeneration and dementia. Extrapolation to the more common sporadic Tauopathies leads one to conclude that the pathological pathway is central to the development of all cases of disease, even if there are multiple reasons for Tau assembly...
2018: Frontiers in Neurology
Kilan Le Guennec, Hélène Tubeuf, Didier Hannequin, David Wallon, Olivier Quenez, Stéphane Rousseau, Anne-Claire Richard, Jean-François Deleuze, Anne Boland, Thierry Frebourg, Pascaline Gaildrat, Dominique Campion, Alexandra Martins, Gaël Nicolas
Heterozygous SORL1 protein truncating variants (PTV) are a strong risk factor for early-onset Alzheimer's disease (EOAD). In case control studies performed at the genome-wide level, PTV definition is usually straightforward. Regarding splice site variants, only those affecting canonical sites are typically included. Some other variants, not annotated as PTV, could, however, affect splicing and hence result in a loss of SORL1 function. We took advantage of the whole exome sequencing data from the 9/484 patients with a previously reported SORL1 PTV in the French EOAD series and searched for a second variant which may affect splicing and eventually result in more than 50% loss of function overall...
2018: Journal of Alzheimer's Disease: JAD
Lin Sun, Zhouyi Rong, Wei Li, Honghua Zheng, Shifu Xiao, Xia Li
Frontotemporal dementia includes a large spectrum of neurodegenerative disorders. SQSTM1 , coding for p62 protein, plays a vital role in the pathogenesis of FTD. Here, we report a case of a female patient with SQSTM1 mutation S224X, who was 59 years old when she initially exhibited memory decline, mild personality changes, and subtle atrophy of frontal/temporal lobes in magnetic resonance imaging (MRI). Genetic testing revealed a nonsense mutation of the SQSTM1 gene (S224X), resulting in premature termination of protein synthesis and a predicted truncated protein 217 amino acids shorter than the normal protein...
2018: Frontiers in Aging Neuroscience
Hannes O Tiedt, Beate Benjamin, Michael Niedeggen, Andreas Lueschow
BACKGROUND: In rare cases, patients with Alzheimer disease (AD) present at an early age and with a family history suggestive of an autosomal dominant mode of inheritance. Mutations of the presenilin-1 (PSEN1) gene are the most common causes of dementia in these patients. Early-onset and particularly familial AD patients frequently present with variable non-amnestic cognitive symptoms such as visual, language or behavioural changes as well as non-cognitive, e.g. motor, symptoms. OBJECTIVE: To investigate the phenotypic variability in carriers of the PSEN1 S170F mutation...
February 22, 2018: Neuro-degenerative Diseases
Alfredo Raglio, Stefania Filippi, Lucia Leonardelli, Emanuela Trentini, Daniele Bellandi
No abstract text is available yet for this article.
February 20, 2018: Aging Clinical and Experimental Research
Khalaf Kridin, Shira Zelber-Sagi, Doron Comaneshter, Arnon D Cohen
Importance: The association between pemphigus and neurologic diseases was not evaluated systematically in the past. In a recent uncontrolled cross-sectional study, Parkinson disease was found to be significantly associated with pemphigus; in the same study, epilepsy had a nonsignificant association with pemphigus. Several case reports have suggested that pemphigus coexists with multiple sclerosis and dementia. Objective: To estimate the association between pemphigus and 4 neurologic conditions (dementia, epilepsy, Parkinson disease, and multiple sclerosis), using one of the largest cohorts of patients with pemphigus...
February 16, 2018: JAMA Dermatology
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