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corticobasal degeneration syndrome

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https://www.readbyqxmd.com/read/27814992/a-cluster-of-progranulin-c157kfsx97-mutations-in-southern-italy-clinical-characterization-and-genetic-correlations
#1
Cinzia Coppola, Dario Saracino, Gianfranco Puoti, Giacomo Lus, Clemente Dato, Isabelle Le Ber, Jeremie Pariente, Paola Caroppo, Elena Piccoli, Fabrizio Tagliavini, Giuseppe Di Iorio, Giacomina Rossi
Frontotemporal lobar degeneration (FTLD) is a group of neurodegenerative diseases displaying high clinical, pathologic, and genetic heterogeneity. Several autosomal dominant progranulin (GRN) mutations have been reported, accounting for 5%-10% of FTLD cases worldwide. In this study, we described the clinical characteristics of 7 Italian patients, 5 with a diagnosis of frontotemporal dementia behavioral variant and 2 of corticobasal syndrome (CBS), carrying the GRN deletion g.101349_101355delCTGCTGT, resulting in the C157KfsX97 null mutation, and hypothesized the existence of a founder effect by means of haplotype sharing analysis...
October 11, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27803826/a-corticobasal-syndrome-variant-of-familial-creutzfeldt-jakob-disease-with-stroke-like-onset
#2
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/27794115/in-vivo-visualization-of-tau-deposits-in-corticobasal-syndrome-by-18f-thk5351-pet
#3
Akio Kikuchi, Nobuyuki Okamura, Takafumi Hasegawa, Ryuichi Harada, Shoichi Watanuki, Yoshihito Funaki, Kotaro Hiraoka, Toru Baba, Naoto Sugeno, Ryuji Oshima, Shun Yoshida, Junpei Kobayashi, Michinori Ezura, Michiko Kobayashi, Ohito Tano, Shunji Mugikura, Ren Iwata, Aiko Ishiki, Katsutoshi Furukawa, Hiroyuki Arai, Shozo Furumoto, Manabu Tashiro, Kazuhiko Yanai, Yukitsuka Kudo, Atsushi Takeda, Masashi Aoki
OBJECTIVE: To determine whether (18)F-THK5351 PET can be used to visualize tau deposits in brain lesions in live patients with corticobasal syndrome (CBS). METHODS: We evaluated the in vitro binding of (3)H-THK5351 in postmortem brain tissues from a patient with corticobasal degeneration (CBD). In clinical PET studies, (18)F-THK5351 retention in 5 patients with CBS was compared to that in 8 age-matched normal controls and 8 patients with Alzheimer disease (AD). RESULTS: (3)H-THK5351 was able to bind to tau deposits in the postmortem brain with CBD...
October 28, 2016: Neurology
https://www.readbyqxmd.com/read/27743520/characterizing-familial-corticobasal-syndrome-due-to-alzheimer-s-pathology-and-psen1-mutations
#4
Benjamin Lam, Aun Khan, Julia Keith, Ekaterina Rogaeva, Juan Bilbao, Peter St George-Hyslop, Mahdi Ghani, Morris Freedman, Donald T Stuss, Tiffany Chow, Sandra E Black, Mario Masellis
INTRODUCTION: Corticobasal syndrome (CBS) resulting from genetic Alzheimer's disease (AD) has been described only once. Whether familial CBS-AD is a distinct clinical entity with its own imaging signature remains unknown. METHODS: Four individuals with CBS from two families underwent detailed assessment. For two individuals, regional atrophy and hypoperfusion were compared to autopsy-confirmed typical late-onset AD and corticobasal degeneration, as well as genetically proven PSEN1 cases with an amnestic presentation...
October 12, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27714552/mapping-temporo-parietal-and-temporo-occipital-cortico-cortical-connections-of-the-human-middle-longitudinal-fascicle-in-subject-specific-probabilistic-and-stereotaxic-talairach-spaces
#5
Nikos Makris, A Zhu, G M Papadimitriou, P Mouradian, I Ng, E Scaccianoce, G Baselli, F Baglio, M E Shenton, Y Rathi, B Dickerson, E Yeterian, M Kubicki
Originally, the middle longitudinal fascicle (MdLF) was defined as a long association fiber tract connecting the superior temporal gyrus and temporal pole with the angular gyrus. More recently its description has been expanded to include all long postrolandic cortico-cortical association connections of the superior temporal gyrus and dorsal temporal pole with the parietal and occipital lobes. Despite its location and size, which makes MdLF one of the most prominent cerebral association fiber tracts, its discovery in humans is recent...
October 6, 2016: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/27662315/the-role-of-single-subject-brain-metabolic-patterns-in-the-early-differential-diagnosis-of-primary-progressive-aphasias-and-in-prediction-of-progression-to-dementia
#6
Chiara Cerami, Alessandra Dodich, Lucia Greco, Sandro Iannaccone, Giuseppe Magnani, Alessandra Marcone, Elisabetta Pelagallo, Roberto Santangelo, Stefano F Cappa, Daniela Perani
BACKGROUND AND OBJECTIVE: Primary progressive aphasia (PPA) is a clinical syndrome due to different neurodegenerative conditions in which an accurate early diagnosis needs to be supported by a reliable diagnostic tool at the individual level. In this study, we investigated in PPA the FDG-PET brain metabolic patterns at the single-subject level, in order to assess the case-to-case variability and its relationship with clinical-neuropsychological findings. MATERIAL AND METHODS: 55 patients (i...
November 1, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27572945/cerebral-glucose-metabolism-and-dopaminergic-function-in-patients-with-corticobasal-syndrome
#7
Erik Mille, Johannes Levin, Matthias Brendel, Christian Zach, Henryk Barthel, Osama Sabri, Kai Bötzel, Peter Bartenstein, Adrian Danek, Axel Rominger
BACKGROUND AND PURPOSE: The corticobasal syndrome (CBS) is a clinical diagnosis that comprises a group of rare neurodegenerative diseases manifesting in movement disorder and cognitive impairment. While diagnosis is based upon clinical criteria, there have been a number of molecular imaging studies, albeit in rather small cohorts. Therefore, we investigated the pattern of cerebral glucose metabolism, as well as dopamine transporter (DAT) availability in a large and clinically well-defined cohort...
August 30, 2016: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/27561438/progressive-supranuclear-palsy-and-corticobasal-degeneration-diagnostic-challenges-and-clinicopathological-considerations
#8
A Eusebio, L Koric, O Félician, E Guedj, M Ceccaldi, J-P Azulay
Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are two atypical parkinsonian syndromes first described half a century ago. The spectrum of these conditions as well as, more generally, the concept of tauopathy have dramatically changed over the past decade and especially in recent years. In particular, clinicopathological correlations have led to the description of several subtypes of these diseases and the features they share with other neurodegenerative diseases. The present paper is a review of how the concepts of PSP and CBD have evolved over time...
August 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27553583/visual-signs-and-symptoms-of-corticobasal-degeneration
#9
REVIEW
Richard A Armstrong
Corticobasal degeneration is a rare, progressive neurodegenerative disease and a member of the 'parkinsonian' group of disorders, which also includes Parkinson's disease, progressive supranuclear palsy, dementia with Lewy bodies and multiple system atrophy. The most common initial symptom is limb clumsiness, usually affecting one side of the body, with or without accompanying rigidity or tremor. Subsequently, the disease affects gait and there is a slow progression to influence ipsilateral arms and legs. Apraxia and dementia are the most common cortical signs...
November 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/27495201/diagnostic-approach-to-atypical-parkinsonian-syndromes
#10
Nikolaus R McFarland
PURPOSE OF REVIEW: Although increasingly recognized, atypical parkinsonian syndromes remain challenging to diagnose and are underrecognized due to overlap with other parkinsonisms. This article provides a diagnostic approach to atypical parkinsonian syndromes, including progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and dementia with Lewy bodies. The goal of this review is to aid the clinician in recognizing key clinical and pathologic features and to raise awareness of recent advances in diagnostics and treatment...
August 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27495200/treatment-of-advanced-parkinson-disease-and-related-disorders
#11
Janis M Miyasaki
PURPOSE OF REVIEW: Parkinson disease often spans decades of a patient's lifetime. Over time, nonmotor symptoms predominate and may limit dopaminergic therapy. Neurologists continue to play a vital role in treatment. In addition to balancing neurobehavioral complications of Parkinson disease with motor benefit, addressing nonmotor symptoms common in the advanced stage may improve quality of life and reduce symptom burden. Symptoms such as dysphagia, constipation, urinary dysfunction, orthostatic hypotension, and pain respond to nonpharmacologic and pharmacologic therapies...
August 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27489878/untangling-tau-imaging
#12
REVIEW
Victor L Villemagne, Nobuyuki Okamura, Christopher C Rowe
In vivo imaging of tau deposits is providing a better understanding of the temporal and spatial tau deposition in the brain, allowing a more comprehensive insight into the causes, diagnoses, and potentially treatment of tauopathies such as Alzheimer's disease, progressive supranuclear palsy, corticobasal syndrome, chronic traumatic encephalopathy, and some variants of frontotemporal lobar degeneration. The assessment of tau deposition in the brain over time will allow a deeper understanding of the relationship between tau and other variables such as cognition, genotype, and neurodegeneration, as well as assessing the role tau plays in ageing...
2016: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/27489771/discriminating-among-degenerative-parkinsonisms-using-advanced-123-i-ioflupane-spect-analyses
#13
Simon Badoud, Dimitri Van De Ville, Nicolas Nicastro, Valentina Garibotto, Pierre R Burkhard, Sven Haller
(123)I-ioflupane single photon emission computed tomography (SPECT) is a sensitive and well established imaging tool in Parkinson's disease (PD) and atypical parkinsonian syndromes (APS), yet a discrimination between PD and APS has been considered inconsistent at least based on visual inspection or simple region of interest analyses. We here reappraise this issue by applying advanced image analysis techniques to separate PD from the various APS. This study included 392 consecutive patients with degenerative parkinsonism undergoing (123)I-ioflupane SPECT at our institution over the last decade: 306 PD, 24 multiple system atrophy (MSA), 32 progressive supranuclear palsy (PSP) and 30 corticobasal degeneration (CBD) patients...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27310132/progression-of-microstructural-degeneration-in-progressive-supranuclear-palsy-and-corticobasal-syndrome-a-longitudinal-diffusion-tensor-imaging-study
#14
Yu Zhang, Rudolph Walter, Peter Ng, Phi N Luong, Shubir Dutt, Hilary Heuer, Julio C Rojas-Rodriguez, Richard Tsai, Irene Litvan, Bradford C Dickerson, Maria Carmela Tartaglia, Gil Rabinovici, Bruce L Miller, Howard J Rosen, Norbert Schuff, Adam L Boxer
Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are both 4 microtubule binding repeat tauopathy related disorders. Clinical trials need new biomarkers to assess the effectiveness of tau-directed therapies. This study investigated the regional distribution of longitudinal diffusion tensor imaging changes, measured by fractional anisotropy, radial and axial diffusivity over 6 months median interval, in 23 normal control subjects, 35 patients with PSP, and 25 patients with CBS. A mixed-effects framework was used to test longitudinal changes within and between groups...
2016: PloS One
https://www.readbyqxmd.com/read/27301638/dissociation-of-quantifiers-and-object-nouns-in-speech-in-focal-neurodegenerative-disease
#15
Sharon Ash, Kylie Ternes, Teagan Bisbing, Nam Eun Min, Eileen Moran, Collin York, Corey T McMillan, David J Irwin, Murray Grossman
Quantifiers such as many and some are thought to depend in part on the conceptual representation of number knowledge, while object nouns such as cookie and boy appear to depend in part on visual feature knowledge associated with object concepts. Further, number knowledge is associated with a frontal-parietal network while object knowledge is related in part to anterior and ventral portions of the temporal lobe. We examined the cognitive and anatomic basis for the spontaneous speech production of quantifiers and object nouns in non-aphasic patients with focal neurodegenerative disease associated with corticobasal syndrome (CBS, n=33), behavioral variant frontotemporal degeneration (bvFTD, n=54), and semantic variant primary progressive aphasia (svPPA, n=19)...
August 2016: Neuropsychologia
https://www.readbyqxmd.com/read/27260836/level-of-picalm-a-key-component-of-clathrin-mediated-endocytosis-is-correlated-with-levels-of-phosphotau-and-autophagy-related-proteins-and-is-associated-with-tau-inclusions-in-ad-psp-and-pick-disease
#16
Kunie Ando, Karen Tomimura, Véronique Sazdovitch, Valérie Suain, Zehra Yilmaz, Michèle Authelet, Marième Ndjim, Cristina Vergara, Mounir Belkouch, Marie-Claude Potier, Charles Duyckaerts, Jean-Pierre Brion
Single nucleotide polymorphisms in PICALM, a key component of clathrin-mediated endocytosis machinery, have been identified as genetic susceptibility loci for late onset Alzheimer's disease (LOAD). We previously reported that PICALM protein levels were decreased in AD brains and that PICALM was co-localised with neurofibrillary tangles in LOAD, familial AD with PSEN1 mutations and Down syndrome. In the present study, we analysed PICALM expression, cell localisation and association with pathological cellular inclusions in other tauopathies and in non-tau related neurodegenerative diseases...
October 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27239526/semantic-and-nonfluent-aphasic-variants-secondarily-associated-with-amyotrophic-lateral-sclerosis-are-predominant-frontotemporal-lobar-degeneration-phenotypes-in-tbk1-carriers
#17
Paola Caroppo, Agnès Camuzat, Anne De Septenville, Philippe Couratier, Lucette Lacomblez, Sophie Auriacombe, Olivier Flabeau, Ludmila Jornéa, Frederic Blanc, François Sellal, Benjamin Cretin, Vincent Meininger, Marie-Céline Fleury, Philippe Couarch, Bruno Dubois, Alexis Brice, Isabelle Le Ber
INTRODUCTION: TBK1 mutations represent a rare novel genetic cause of amyotrophic lateral sclerosis (ALS) without or with dementia. The full spectrum of TBK1 phenotypes has not been completely defined so far. METHODS: We describe the clinical and neuroimaging characteristics of loss-of-function mutation carriers initially presenting with frontotemporal lobar degeneration (FTLD) phenotypes. RESULTS: Two carriers initially presented semantic variant of FTLD (svFTLD); two other developed nonfluent variant of FTLD (nfvFTLD) and corticobasal syndrome (CBS), associated with severe anterior temporal and opercular atrophy...
December 2015: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/27186717/neurochemical-biomarkers-in-the-diagnosis-of-frontotemporal-lobar-degeneration-an-update
#18
REVIEW
Patrick Oeckl, Petra Steinacker, Emily Feneberg, Markus Otto
Frontotemporal lobar degeneration (FTLD) is a spectrum of rare neurodegenerative diseases with overlapping symptoms and neuropathology. It includes the behavioral variant of frontotemporal dementia (bvFTD), the semantic and non-fluent variant of primary progressive aphasia (svPPA and nfvPPA), FTD with motor neuron disease (FTD-MND), progressive supranuclear palsy, and corticobasal syndrome. The diagnosis of the FTLD spectrum of diseases is based on clinical symptoms which hampers the differentiation of the diseases among each other and with other disorders that show a similar clinical appearance resulting in a high rate of misdiagnoses...
August 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27148847/insular-atrophy-and-diminished-disgust-reactivity
#19
Alice Verstaen, Janet A Eckart, Luma Muhtadie, Marcela C Otero, Virginia E Sturm, Claudia M Haase, Bruce L Miller, Robert W Levenson
Disgust is an emotion that helps us deal with potential contamination (Rozin & Fallon, 1987). It produces a distinctive facial expression (e.g., wrinkled nose) and a physiological response that is accompanied by strong visceral sensations (e.g., nausea). Given the important role that the anterior insula plays in processing and integrating visceral information (Craig, 2009), it is likely to be centrally involved in disgust. Despite this, few studies have examined the link between insular degeneration and the experience, physiology, and expression of disgust...
September 2016: Emotion
https://www.readbyqxmd.com/read/27104906/looking-for-measures-of-disease-severity-in-the-frontotemporal-dementia-continuum
#20
Enrico Premi, Vera Gualeni, Paolo Costa, Maura Cosseddu, Roberto Gasparotti, Alessandro Padovani, Barbara Borroni
Frontotemporal dementia (FTD) is characterized by executive dysfunctions, behavioral disturbances, language deficits and extrapyramidal symptoms. Frontotemporal lobar degeneration-modified Clinical Dementia Rating Scale (FTLD modified-CDR) has been proposed to measure disease severity in behavioral variant FTD (bvFTD). No tools of global disease severity are available in the other FTLD phenotypes [primary progressive aphasias (PPAs), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS)]. This would be strategic as outcome measures in clinical trials...
April 16, 2016: Journal of Alzheimer's Disease: JAD
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