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Corticobasal degeneration

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https://www.readbyqxmd.com/read/28652219/the-fate-of-the-brain-cholinergic-neurons-in-neurodegenerative-diseases
#1
REVIEW
Giancarlo Pepeu, Maria Grazia Giovannini
The aims of this review are: 1) to describe which cholinergic neurons are affected in brain neurodegenerative diseases leading to dementia; 2) to discuss the possible causes of the degeneration of the cholinergic neurons, 3) to summarize the functional consequences of the cholinergic deficit. The brain cholinergic system is basically constituted by three populations of phenotypically similar neurons forming a series of basal forebrain nuclei, the midpontine nuclei and a large population of striatal interneurons...
June 23, 2017: Brain Research
https://www.readbyqxmd.com/read/28649612/disentangling-the-neural-correlates-of-corticobasal-syndrome-and-corticobasal-degeneration-with-systematic-and-quantitative-ale-meta-analyses
#2
Franziska Albrecht, Sandrine Bisenius, Rodrigo Morales Schaack, Jane Neumann, Matthias L Schroeter
Corticobasal degeneration is a scarce neurodegenerative disease, which can only be confirmed by histopathological examination. Reported to be associated with various clinical syndromes, its classical clinical phenotype is corticobasal syndrome. Due to the rareness of corticobasal syndrome/corticobasal degeneration and low numbers of patients included in single studies, meta-analyses are particularly suited to disentangle features of the clinical syndrome and histopathology. Using PubMed, we identified 11 magnetic resonance imaging studies measuring atrophy in 22 independent cohorts with 200 patients contrasted to 318 healthy controls...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28634465/abnormal-resting-state-functional-connectivity-in-progressive-supranuclear-palsy-and-corticobasal-syndrome
#3
Komal Bharti, Matteo Bologna, Neeraj Upadhyay, Maria Cristina Piattella, Antonio Suppa, Nikolaos Petsas, Costanza Giannì, Francesca Tona, Alfredo Berardelli, Patrizia Pantano
BACKGROUND: Pathological and MRI-based evidence suggests that multiple brain structures are likely to be involved in functional disconnection between brain areas. Few studies have investigated resting-state functional connectivity (rsFC) in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). In this study, we investigated within- and between-network rsFC abnormalities in these two conditions. METHODS: Twenty patients with PSP, 11 patients with CBS, and 16 healthy subjects (HS) underwent a resting-state fMRI study...
2017: Frontiers in Neurology
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/28599675/ykl-40-chitinase-3-like-i-is-expressed-in-a-subset-of-astrocytes-in-alzheimer-s-disease-and-other-tauopathies
#5
Marta Querol-Vilaseca, Martí Colom-Cadena, Jordi Pegueroles, Carla San Martín-Paniello, Jordi Clarimon, Olivia Belbin, Juan Fortea, Alberto Lleó
BACKGROUND: The innate immune system is known to be involved early in the pathogenesis of Alzheimer's disease (AD) and other neurodegenerative disorders. The inflammatory response in the central nervous system can be measured postmortem or through a series of inflammatory mediator surrogates. YKL-40 (also named Chitinase-3-like I) has been frequently investigated in body fluids as a surrogate marker of neuroinflammation in AD and other neurological disorders. However, the expression pattern of YKL-40 in the human brain with neurodegenerative pathology remains poorly investigated...
June 9, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28592456/csf-sapp%C3%AE-ykl-40-and-neurofilament-light-in-frontotemporal-lobar-degeneration
#6
Daniel Alcolea, Eduard Vilaplana, Marc Suárez-Calvet, Ignacio Illán-Gala, Rafael Blesa, Jordi Clarimón, Albert Lladó, Raquel Sánchez-Valle, José L Molinuevo, Guillermo García-Ribas, Yaroslau Compta, María José Martí, Gerard Piñol-Ripoll, Guillermo Amer-Ferrer, Aina Noguera, Ana García-Martín, Juan Fortea, Alberto Lleó
OBJECTIVE: To analyze the clinical utility of 3 CSF biomarkers and their structural imaging correlates in a large cohort of patients with different dementia and parkinsonian syndromes within the spectrum of frontotemporal lobar degeneration (FTLD). METHODS: We analyzed 3 CSF biomarkers (YKL-40, soluble β fragment of amyloid precursor protein [sAPPβ], neurofilament light [NfL]) and core Alzheimer disease (AD) biomarkers (β-amyloid1-42, total tau, phosphorylated tau) in patients with FTLD-related clinical syndromes (n = 159): behavioral variant of frontotemporal dementia (n = 68), nonfluent (n = 23) and semantic (n = 19) variants of primary progressive aphasia, progressive supranuclear palsy (n = 28), and corticobasal syndrome (n = 21)...
June 7, 2017: Neurology
https://www.readbyqxmd.com/read/28572021/death-certificates-data-and-causes-of-death-in-patients-with-parkinsonism
#7
Mariana Moscovich, Gabriela Boschetti, Adriana Moro, Helio A G Teive, Anhar Hassan, Renato P Munhoz
INTRODUCTION: Assessment of variables related to mortality in Parkinson disease (PD) and other parkinsonian syndromes relies, among other sources, on accurate death certificate (DC) documentation. We assessed the documentation of the degenerative disorder on DCs and evaluated comorbidities and causes of death among parkinsonian patients. METHODS: Demographic and clinical data were systematically and prospectively collected on deceased patients followed at a tertiary movement disorder clinic...
May 26, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28566176/effects-of-age-and-glucose-levels-on-lactate-levels-in-cerebrospinal-fluid-examination-of-neurodegenerative-diseases
#8
Fumihito Nakano, Ken Sakushima, Reona Umeki, Ichiro Yabe, Akira Endoh, Hidenao Sasaki
Despite recent studies examining the association between neurodegenerative diseases and mitochondrial dysfunction, there are not sufficient data on factors that influence cerebrospinal fluid (CSF) lactate levels. Thus, we investigated factors that affect CSF lactate levels in neurodegenerative diseases. We extracted laboratory findings, including CSF lactate, glucose, and protein levels, and demographic and background information, including age and gender, from the electronic medical records of patients with neurodegenerative diseases in order to explore factors that have an impact CSF lactate levels...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28510312/the-midbrain-to-pons-ratio-distinguishes-progressive-supranuclear-palsy-from-non-fluent-primary-progressive-aphasias
#9
M Silsby, R Y Tweedie-Cullen, C R Murray, G M Halliday, J R Hodges, J R Burrell
BACKGROUND AND PURPOSE: To determine the clinical utility of the midbrain-to-pons (M/P) ratio as a clinical biomarker of progressive supranuclear palsy (PSP) in patients with non-fluent primary progressive aphasia syndromes. METHODS: Patients with PSP, progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (LPA) were recruited. Patients were diagnosed clinically, but pathological confirmation was available in a proportion of patients. Midbrain and pons areas were measured using Osirix Lite, a free DICOM viewer...
July 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28506438/prion-like-spreading-in-tauopathies
#10
REVIEW
Jacob I Ayers, Benoit I Giasson, David R Borchelt
Tau is a microtubule-associated protein that functions in regulating cytoskeleton dynamics, especially in neurons. Misfolded and aggregated forms of tau produce pathological structures in a number of neurodegenerative diseases, including Alzheimer's disease (AD) and tauopathy dementias. These disorders can present with a sporadic etiology, such as in AD, or a familial etiology, such as in some cases of frontotemporal dementia with parkinsonism. Notably, the pathological features of tau pathology in these diseases can be very distinct...
April 13, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28500752/which-ante-mortem-clinical-features-predict-progressive-supranuclear-palsy-pathology
#11
Gesine Respondek, Carolin Kurz, Thomas Arzberger, Yaroslau Compta, Elisabet Englund, Leslie W Ferguson, Ellen Gelpi, Armin Giese, David J Irwin, Wassilios G Meissner, Christer Nilsson, Alexander Pantelyat, Alex Rajput, John C van Swieten, Claire Troakes, Keith A Josephs, Anthony E Lang, Brit Mollenhauer, Ulrich Müller, Jennifer L Whitwell, Angelo Antonini, Kailash P Bhatia, Yvette Bordelon, Jean-Christophe Corvol, Carlo Colosimo, Richard Dodel, Murray Grossman, Jan Kassubek, Florian Krismer, Johannes Levin, Stefan Lorenzl, Huw Morris, Peter Nestor, Wolfgang H Oertel, Gil D Rabinovici, James B Rowe, Thilo van Eimeren, Gregor K Wenning, Adam Boxer, Lawrence I Golbe, Irene Litvan, Maria Stamelou, Günter U Höglinger
BACKGROUND: Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. OBJECTIVE: To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP. METHODS: We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology...
May 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28486594/apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#12
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
Apathy and impulsivity are common and disabling consequences of frontotemporal lobar degeneration. They cause substantial carer distress, but their aetiology remains elusive. There are critical limitations to previous studies in this area including (i) the assessment of either apathy or impulsivity alone, despite their frequent co-existence; (ii) the assessment of behavioural changes within single diagnostic groups; and (iii) the use of limited sets of tasks or questions that relate to just one aspect of these multifactorial constructs...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28473694/accumulation-of-multiple-neurodegenerative-disease-related-proteins-in-familial-frontotemporal-lobar-degeneration-associated-with-granulin-mutation
#13
Masato Hosokawa, Hiromi Kondo, Geidy E Serrano, Thomas G Beach, Andrew C Robinson, David M Mann, Haruhiko Akiyama, Masato Hasegawa, Tetsuaki Arai
In 2006, mutations in the granulin gene were identified in patients with familial Frontotemporal Lobar Degeneration. Granulin transcript haploinsufficiency has been proposed as a disease mechanism that leads to the loss of functional progranulin protein. Granulin mutations were initially found in tau-negative patients, though recent findings indicate that these mutations are associated with other neurodegenerative disorders with tau pathology, including Alzheimer's disease and corticobasal degeneration. Moreover, a reduction in progranulin in tau transgenic mice is associated with increasing tau accumulation...
May 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28458551/levodopa-responsive-depression-associated-with-corticobasal-degeneration-a-case-report
#14
Natsumi Tarakita, Haruo Nishijima, Norio Yasui-Furukori
A 60-year-old female was treated for depression with the antidepressant paroxetine for 13 years. The patient had experienced clumsiness and mild rigidity in the left hand, and had agraphia and mild subjective memory complaints for 3 years prior to admission in our hospital. She experienced exacerbated depression that included worsened depressive mood, lowered motivation, and suicidal ideation without precipitating stressful life events for 2 years prior to admission, and although she had continued taking the antidepressant, these symptoms were not ameliorated by increasing the dose of paroxetine...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28453492/quantification-of-butyrylcholinesterase-activity-as-a-sensitive-and-specific-biomarker-of-alzheimer-s-disease
#15
Ian R Macdonald, Selena P Maxwell, George A Reid, Meghan K Cash, Drew R DeBay, Sultan Darvesh
Amyloid-β (Aβ) plaques are a neuropathological hallmark of Alzheimer's disease (AD); however, a significant number of cognitively normal older adults can also have Aβ plaques. Thus, distinguishing AD from cognitively normal individuals with Aβ plaques (NwAβ) based on Aβ plaque detection is challenging. It has been observed that butyrylcholinesterase (BChE) accumulates in plaques preferentially in AD. Thus, detecting BChE-associated plaques has the potential as an improved AD biomarker. We present Aβ, thioflavin-S, and BChE quantification of 26 postmortem brain tissues; AD (n = 8), NwAβ (n = 6), cognitively normal without plaques (n = 8), and other common dementias including corticobasal degeneration, frontotemporal dementia with tau, dementia with Lewy bodies, and vascular dementia...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28413156/exposure-of-the-amino-terminus-of-tau-is-a-pathological-event-in-multiple-tauopathies
#16
Benjamin Combs, Nicholas M Kanaan
Pathological changes to the tau protein, including conformational changes and aggregation, are major hallmarks of a group of neurodegenerative disorders known as tauopathies. Among the conformational changes are alterations involving the extreme amino terminus of the protein, known as the phosphatase-activating domain (PAD). Aberrant PAD exposure induces a signaling cascade that leads to disruption of axonal transport, a critical function for neuronal survival. Conformational display of PAD is an early marker of pathological tau in Alzheimer disease (AD), but its role in other tauopathies has yet to be firmly established...
June 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28402959/meta-analysis-of-the-association-between-variants-in-mapt-and-neurodegenerative-diseases
#17
REVIEW
Cheng-Cheng Zhang, Jun-Xia Zhu, Yu Wan, Lin Tan, Hui-Fu Wang, Jin-Tai Yu, Lan Tan
Microtubule-associated protein tau (MAPT) gene is compelling among the susceptibility genes of neurodegenerative diseases which include Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Our meta-analysis aimed to find the association between MAPT and the risk of these diseases. Published literatures were retrieved from MEDLINE and other databases, and 82 case-control studies were recruited...
March 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28389938/combined-visual-and-semi-quantitative-assessment-of-123-i-fp-cit-spect-for-the-diagnosis-of-dopaminergic-neurodegenerative-diseases
#18
Jun Ueda, Hajime Yoshimura, Keiji Shimizu, Megumu Hino, Nobuo Kohara
Visual and semi-quantitative assessments of (123)I-FP-CIT single-photon emission computed tomography (SPECT) are useful for the diagnosis of dopaminergic neurodegenerative diseases (dNDD), including Parkinson's disease, dementia with Lewy bodies, progressive supranuclear palsy, multiple system atrophy, and corticobasal degeneration. However, the diagnostic value of combined visual and semi-quantitative assessment in dNDD remains unclear. Among 239 consecutive patients with a newly diagnosed possible parkinsonian syndrome who underwent (123)I-FP-CIT SPECT in our medical center, 114 patients with a disease duration less than 7 years were diagnosed as dNDD with the established criteria or as non-dNDD according to clinical judgment...
April 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28370398/tau-aggregates-where-when-why-and-what-consequences
#19
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
April 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28370167/tau-aggregates-where-when-why-and-what-consequences
#20
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
March 30, 2017: Neuropathology and Applied Neurobiology
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