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https://www.readbyqxmd.com/read/28062558/biological-spectrum-of-amyotrophic-lateral-sclerosis-prions
#1
Magdalini Polymenidou, Don W Cleveland
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar dementia (FTLD) are two neurodegenerative diseases with distinct clinical features but common genetic causes and neuropathological signatures. Ten years after the RNA-binding protein TDP-43 was discovered as the main protein in the cytoplasmic inclusions that characterize ALS and FTLD, their pathogenic mechanisms have never seemed more complex. Indeed, discoveries of the past decade have revolutionized our understanding of these diseases, highlighting their genetic heterogeneity and the involvement of protein-RNA assemblies in their pathogenesis...
January 6, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28042772/factors-of-rapid-cognitive-decline-in-late-onset-alzheimer-s-disease
#2
Pierre Koskas, Mariela Cecile Henry-Feugeas, Jean Paul Feugeas, Phalla Ou, Olivier Drunat
BACKGROUND: Rapid Cognitive Decline (RCD) in Alzheimer Disease (AD) is associated with a worse disease progression. There is no consensual predictor of RCD and only a few studies have focused on RCD in late-onset dementia, the most common form of AD Objective: To identify the predictors of RCD, in a population of community-dwelling patients with recently diagnosed late onset AD Methods: Community-dwelling subjects aged>75 consulting for the first time in Old Age Memory outpatient center from 2009 to 2012 were considered...
January 2, 2017: Current Aging Science
https://www.readbyqxmd.com/read/28035932/effect-of-vascular-risk-factors-on-the-progression-of-mild-alzheimer-s-disease-and-lewy-body-dementia
#3
Anne Katrine Bergland, Ingvild Dalen, Alf Inge Larsen, Dag Aarsland, Hogne Soennesyn
BACKGROUND: Vascular risk factors (VRF) are associated with an increased risk of neurodegenerative disease. OBJECTIVE: To examine the association between VRF and cognitive decline in patients with Alzheimer's disease (AD) and Lewy body dementia (LBD). METHODS: We included consecutive referrals with mild AD or LBD to dementia clinics in western Norway from 2005 to 2013. The Mini-Mental Status Exam (MMSE) and Clinical Dementia Rating Scale Sum of Boxes (CDR-SB) were administered at baseline and then annually for up to five years...
December 30, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27943639/genetic-prion-disease-experience-of-a-rapidly-progressive-dementia-center-in-the-united-states-and-a-review-of-the-literature
#4
REVIEW
Leonel T Takada, Mee-Ohk Kim, Ross W Cleveland, Katherine Wong, Sven A Forner, Ignacio Illán Gala, Jamie C Fong, Michael D Geschwind
Although prion diseases are generally thought to present as rapidly progressive dementias with survival of only a few months, the phenotypic spectrum for genetic prion diseases (gPrDs) is much broader. The majority have a rapid decline with short survival, but many patients with gPrDs present as slowly progressive ataxic or parkinsonian disorders with progression over a few to several years. A few very rare mutations even present as neuropsychiatric disorders, sometimes with systemic symptoms such as gastrointestinal disorders and neuropathy, progressing over years to decades...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27942718/diagnosis-of-human-prion-disease-using-real-time-quaking-induced-conversion-testing-of-olfactory-mucosa-and-cerebrospinal-fluid-samples
#5
Matilde Bongianni, Christina Orrù, Bradley R Groveman, Luca Sacchetto, Michele Fiorini, Giovanni Tonoli, Giorgio Triva, Stefano Capaldi, Silvia Testi, Sergio Ferrari, Annachiara Cagnin, Anna Ladogana, Anna Poleggi, Elisa Colaizzo, Dorina Tiple, Luana Vaianella, Santina Castriciano, Daniele Marchioni, Andrew G Hughson, Daniele Imperiale, Tatiana Cattaruzza, Gian Maria Fabrizi, Maurizio Pocchiari, Salvatore Monaco, Byron Caughey, Gianluigi Zanusso
Importance: Early and accurate in vivo diagnosis of Creutzfeldt-Jakob disease (CJD) is necessary for quickly distinguishing treatable from untreatable rapidly progressive dementias and for future therapeutic trials. This early diagnosis is becoming possible using the real-time quaking-induced conversion (RT-QuIC) seeding assay, which detects minute amounts of the disease-specific pathologic prion protein in cerebrospinal fluid (CSF) or olfactory mucosa (OM) samples. Objective: To develop an algorithm for accurate and early diagnosis of CJD by using the RT-QuIC assay on CSF samples, OM samples, or both...
December 12, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27929804/familial-creutzfeldt-jakob-disease-case-report-and-role-of-genetic-counseling-in-post-mortem-testing
#6
Kristin Clift, Kimberly Guthrie, Eric W Klee, Nicole Boczek, Margot Cousin, Patrick Blackburn, Paldeep Atwal
Here we present a case of an asymptomatic 53-year-old woman who sought genetic testing for Familial Creutzfeldt-Jakob Disease (fCJD) after learning that her mother had fCJD. The patient's mother had a sudden onset of memory problems and rapidly deteriorating mental faculties in her late 70s, which led to difficulties ambulating, progressive non-fluent aphasia, dysphagia and death within ∼1 y of symptom onset. The cause of death was reported as "rapid onset dementia." The patient's family, unhappy with the vague diagnosis, researched prion disorders online and aggressively pursued causation and submitted frozen brain tissue from the mother to the National Prion Disease Surveillance Center, where testing revealed a previously described 5-octapeptide repeat insertion (5-OPRI) in the prion protein gene (PRNP) that is known to cause fCJD...
November 2016: Prion
https://www.readbyqxmd.com/read/27905341/heidenhain-variant-of-creutzfeldt-jakob-disease-in-a-patient-who-had-bovine-bioprosthetic-valve-implantation
#7
Jehard Hashoul, Waleed Saliba, Irina Bloch, Haneen Jabaly-Habib
Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder characterized by rapidly progressing dementia, general neurologic deterioration, and death. When the leading symptoms are visual disturbances, it is termed as the Heidenhain variant of CJD (HvCJD). CJD was reported following prion-contaminated pericardium transplants but never after bovine bioprosthetic cardiac valve. In this case report, we describe HvCJD in a patient who had a bovine bioprosthetic cardiac valve implant. An 82-year-old-woman was referred to neuro-ophthalmology clinic for unexplained visual loss that started 1 month previously...
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27884882/lymphomatosis-cerebri-diagnostic-challenges-and-review-of-the-literature
#8
Paul J Lee, Idanis Berrios, Carolina Ionete, Thomas Smith
Lymphomatosis cerebri (LC) is a rare variant of a primary central nervous system non-Hodgkin's lymphoma (PCNSL) characterised by diffuse infiltration of tumour cells throughout the brain parenchyma. We present a 68-year-old immunocompetent woman with headaches, dizziness, blurred vision, localised right leg weakness and rapidly progressive dementia. A brain MRI demonstrated diffuse T2 hyperintense white matter lesions that did not enhance with contrast. The clinical differential diagnosis of these lesions included metastatic disease, infectious or inflammatory process such as sarcoidosis, lymphoma, demyelinating disease and less likely vascular aetiology, such as vasculitis or ischaemic stroke...
November 24, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27876002/sporadic-creutzfeldt-jakob-disease-with-unusual-initial-presentation-as-posterior-reversible-encephalopathy-syndrome-a-case-report
#9
Edgaras Dirzius, Renata Balnyte, Vesta Steibliene, Rymante Gleizniene, Inga Gudinaviciene, Andrius Radziunas, Kestutis Petrikonis
BACKGROUND: Creutzfeldt - Jakob disease (CJD) is a rapidly progressive and fatal neurodegenerative prion disease. MRI findings are included in diagnostic criteria for probable CJD, giving a sensitivity and specificity more than 90%, but the atypical radiological presentations in the early stage of the disease could cause the diagnostic difficulties. CJD can be definitively diagnosed by histopathological confirmation, brain biopsy or at autopsy. CASE PRESENTATION: We present a case of 53-year-old woman with a history of a rapidly progressive dementia with symptoms of visual impairment, increased extrapyramidal type muscle tonus, stereotypical movements and ataxic gait resulting in the patient's death after13 months...
November 22, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27870938/evaluation-of-%C3%AE-synuclein-as-a-novel-cerebrospinal-fluid-biomarker-in-different-forms-of-prion-diseases
#10
Franc Llorens, Niels Kruse, Matthias Schmitz, Nadine Gotzmann, Ewa Golanska, Katrin Thüne, Orgeta Zejneli, Eirini Kanata, Tobias Knipper, Maria Cramm, Peter Lange, Saima Zafar, Beata Sikorska, Pawel P Liberski, Eva Mitrova, Daniela Varges, Christian Schmidt, Theodoros Sklaviadis, Brit Mollenhauer, Inga Zerr
INTRODUCTION: Accurate diagnosis of prion diseases and discrimination from alternative dementias gain importance in the clinical routine, but partial overlap in cerebrospinal fluid (CSF) biomarkers impedes absolute discrimination in the differential diagnostic context. METHODS: We established the clinical parameters for prion disease diagnosis for the quantification of CSF α-synuclein in patients with sporadic (n = 234) and genetic (n = 56) prion diseases, in cases with cognitive impairment or dementia (n = 278), and in the neurologic control (n = 111) group...
November 18, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27867500/neurological-complications-in-chronic-kidney-disease
#11
REVIEW
Ria Arnold, Tushar Issar, Arun V Krishnan, Bruce A Pussell
Patients with chronic kidney disease (CKD) are frequently afflicted with neurological complications. These complications can potentially affect both the central and peripheral nervous systems. Common neurological complications in CKD include stroke, cognitive dysfunction, encephalopathy, peripheral and autonomic neuropathies. These conditions have significant impact not only on patient morbidity but also on mortality risk through a variety of mechanisms. Understanding the pathophysiological mechanisms of these conditions can provide insights into effective management strategies for neurological complications...
January 2016: JRSM Cardiovascular Disease
https://www.readbyqxmd.com/read/27866858/clinical-variables-and-biomarkers-in-prediction-of-cognitive-impairment-in-patients-with-newly-diagnosed-parkinson-s-disease-a-cohort-study
#12
Anette Schrag, Uzma Faisal Siddiqui, Zacharias Anastasiou, Daniel Weintraub, Jonathan M Schott
BACKGROUND: Parkinson's disease is associated with an increased incidence of cognitive impairment and dementia. Predicting who is at risk of cognitive decline early in the disease course has implications for clinical prognosis and for stratification of participants in clinical trials. We assessed the use of clinical information and biomarkers as predictive factors for cognitive decline in patients with newly diagnosed Parkinson's disease. METHODS: The Parkinson's Progression Markers Initiative (PPMI) study is a cohort study in patients with newly diagnosed Parkinson's disease...
January 2017: Lancet Neurology
https://www.readbyqxmd.com/read/27862810/angiotensin-converting-enzyme-insertion-deletion-polymorphism-and-the-longitudinal-progression-of-alzheimer-s-disease
#13
Ping-Song Chou, Meng-Ni Wu, Mei-Chuan Chou, I Chien, Yuan-Han Yang
AIM: The angiotensin-converting enzyme gene (ACE) insertion (I)/deletion (D) polymorphism is considered a biologically plausible gene for Alzheimer's disease (AD) in cross-sectional studies. The present study aimed to investigate the longitudinal effect of ACE I/D polymorphism on AD progression. METHODS: This 3-year observational study investigated the longitudinal effect of ACE I/D polymorphism on AD progression. Clinically diagnosed AD patients with a clinical dementia rating (CDR) of 0...
November 10, 2016: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/27862176/inflammasomes-hormesis-and-antioxidants-in-neuroinflammation-role-of-nrlp3-in-alzheimer-disease
#14
REVIEW
Manuela Pennisi, Rosalia Crupi, Rosanna Di Paola, Maria Laura Ontario, Rita Bella, Edward J Calabrese, Roberto Crea, Salvatore Cuzzocrea, Vittorio Calabrese
Alzheimer disease (AD) is a progressive neurodegenerative disorder leading to cognitive decline, neuropsychiatric symptoms, disability, caregiver burden, and premature death. It represents the most prevalent cause of dementia, and its incidence rates exponentially increase with increasing age. The number of Americans living with AD is rapidly increasing. An estimated 5.4 million Americans of all ages have AD in 2016. One in nine people aged 65 and older has AD, and by midcentury, someone in the United States will develop the disease every 33 sec...
November 8, 2016: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27849640/rapidly-progressive-dementia-prevalence-and-causes-in-a-neurologic-unit-of-a-tertiary-hospital-in-brazil
#15
Adalberto Studart Neto, Herval R Soares Neto, Mateus M Simabukuro, Davi J F Solla, Márcia R R Gonçalves, Ida Fortini, Luiz H M Castro, Ricardo Nitrini
BACKGROUND: Rapidly progressive dementia (RPD) is usually associated with Creutzfeldt-Jakob disease, a fatal condition. Current advances in the understanding of immune-mediated diseases allow the diagnosis of previously unrecognized treatable RPDs. OBJECTIVE OF THE STUDY: The objective of the study was to describe the prevalence and causes of RPD in a neurology service, identifying potentially reversible causes. METHODS: We carried out a cross-sectional evaluation of all patients admitted to the neurology unit of a tertiary hospital in Brazil between March 2012 and February 2015...
November 15, 2016: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/27845782/a-targeted-proteomic-multiplex-csf-assay-identifies-increased-malate-dehydrogenase-and-other-neurodegenerative-biomarkers-in-individuals-with-alzheimer-s-disease-pathology
#16
R W Paterson, W E Heywood, A J Heslegrave, N K Magdalinou, U Andreasson, E Sirka, E Bliss, C F Slattery, J Toombs, J Svensson, P Johansson, N C Fox, H Zetterberg, K Mills, J M Schott
Alzheimer's disease (AD) is the most common cause of dementia. Biomarkers are required to identify individuals in the preclinical phase, explain phenotypic diversity, measure progression and estimate prognosis. The development of assays to validate candidate biomarkers is costly and time-consuming. Targeted proteomics is an attractive means of quantifying novel proteins in cerebrospinal and other fluids, and has potential to help overcome this bottleneck in biomarker development. We used a previously validated multiplexed 10-min, targeted proteomic assay to assess 54 candidate cerebrospinal fluid (CSF) biomarkers in two independent cohorts comprising individuals with neurodegenerative dementias and healthy controls...
November 15, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27833227/creutzfeldt-jakob-disease-phenotype-and-course-our-experience-from-a-tertiary-center
#17
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, Mariamma Philip, Veeranna Gadad
INTRODUCTION: Prion diseases are protein conformation disorders and neither caused by viroid or virus but is a transmissible particle labeled a prion by Pruisner. Normal prion protein becomes infectious by a different folding, but the triggers are not known. Based on the characteristic brain pathology, they are grouped under spongiform encephalopathy affecting both man and animals. Estimated prevalence is one per million. Creutzfeldt-Jakob disease (CJD) registry from National Institute and Neurosciences (NIMHANS), Bengaluru, reported 69 cases in 30 years...
September 2016: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/27809929/insight-of-brain-degenerative-protein-modifications-in-the-pathology-of-neurodegeneration-and-dementia-by-proteomic-profiling
#18
REVIEW
Sunil S Adav, Siu Kwan Sze
Dementia is a syndrome associated with a wide range of clinical features including progressive cognitive decline and patient inability to self-care. Due to rapidly increasing prevalence in aging society, dementia now confers a major economic, social, and healthcare burden throughout the world, and has therefore been identified as a public health priority by the World Health Organization. Previous studies have established dementia as a 'proteinopathy' caused by detrimental changes in brain protein structure and function that promote misfolding, aggregation, and deposition as insoluble amyloid plaques...
November 3, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27803826/a-corticobasal-syndrome-variant-of-familial-creutzfeldt-jakob-disease-with-stroke-like-onset
#19
Ján Necpál, Martin Stelzer, Silvia Koščová, Michal Patarák
Creutzfeldt-Jakob disease (CJD) is an untreatable rare human prion disease characterized by rapidly progressive dementia along with various neurological features, including myoclonus and sometimes other movement disorders. The clinical course is typically insidious and rapid, leading to an early death. In general, the most common form is sporadic CJD; however, Slovakia is typical for a high percentage of genetic cases. We present an unusual case report of a 65-year-old man with a sudden, stroke-like onset of motor aphasia with right-sided levodopa unresponsive parkinsonism, alien hand, and other characteristic features of corticobasal syndrome (CBS), with rapid deterioration and death on the 32nd day of the disease...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27802239/rapidly-progressive-frontotemporal-dementia-associated-with-mapt-mutation%C3%A2-g389r
#20
Lin Sun, Kathryn Chen, Xia Li, Shifu Xiao
Frontotemporal dementia includes a large spectrum of neurodegenerative disorders. Here, we report the case of a young patient with MAPT mutation G389R, who was 27 years old when he progressively developed severe behavioral disturbances. Initially, he presented with slowly progressive personality change. After 1 year, he exhibited moderate dementia with extrapyramidal and pyramidal symptoms. MRI showed frontotemporal atrophy. He rapidly progressed to severe dementia 3 years after onset. Genetic testing revealed a heterozygous guanine to cytosine mutation at the first base of codon 389 (c...
2017: Journal of Alzheimer's Disease: JAD
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