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Progressive aphasia

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https://www.readbyqxmd.com/read/28915852/a-novel-frameshift-grn-mutation-results-in-frontotemporal-lobar-degeneration-with-a-distinct-clinical-phenotype-in-two-siblings-case-report-and-literature-review
#1
Takashi Hosaka, Kazuhiro Ishii, Takeshi Miura, Naomi Mezaki, Kensaku Kasuga, Takeshi Ikeuchi, Akira Tamaoka
BACKGROUND: Progranulin gene (GRN) mutations are major causes of frontotemporal lobar degeneration. To date, 68 pathogenic GRN mutations have been identified. However, very few of these mutations have been reported in Asians. Moreover, some GRN mutations manifest with familial phenotypic heterogeneity. Here, we present a novel GRN mutation resulting in frontotemporal lobar degeneration with a distinct clinical phenotype, and we review reports of GRN mutations associated with familial phenotypic heterogeneity...
September 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28915686/evaluation-on-efficacy-and-safety-of-the-addition-of-x-knife-therapy-to-gefitinib-in-nsclc-patients-with-symptomatic-brain-metastases
#2
Linbo Cai, Xiaoguang Qiu, Haihong Yang, Mingyao Lai, Changguo Shan, Weiping Hong, Juan Li, Longhui Luo, Ping Zhang, Lichao Wang
BACKGROUND: Stereotactic radiosurgery (SRS) is a widely used therapy for brain metastases(BMs) in Non-small cell lung cancer(NSCLC). However, its role in symptomatic patients with EGFR mutation remains unclear. We have retrospectively reviewed the clinical data of patients with symptomatic BMs whom received SRS as a salvage approach and concurrent gifitinib therapy. METHODS: Seven patients with primary NSCLC, symptomatic BMs, and EGFR mutation were identified in a retrospective review of patients treated with SRS using X-knife at Guangdong 999 Brain Hospital between 1 January 2012 and 31 August 2014...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28912300/-18-f-av-1451-binding-in-vivo-mirrors-the-expected-distribution-of-tdp-43-pathology-in-the-semantic-variant-of-primary-progressive-aphasia
#3
W R Bevan-Jones, Thomas E Cope, P Simon Jones, Luca Passamonti, Young T Hong, Tim D Fryer, Robert Arnold, Kieren S J Allinson, Jonathan P Coles, Franklin I Aigbirhio, Karalyn Patterson, John T O'Brien, James B Rowe
INTRODUCTION: Semantic dementia, including the semantic variant of primary progressive aphasia (svPPA), is strongly associated with TAR-DNA binding protein 43 (TDP-43) type C pathology. It provides a useful model in which to test the specificity of in vivo binding of the putative tau ligand [(18)F]AV-1451, which is elevated in frontotemporal lobar degeneration tauopathies. METHODS AND RESULTS: Seven patients (five with svPPA and two with 'right' semantic dementia) and 12 healthy controls underwent positron emission tomography brain imaging with [(18)F]AV-1451...
September 14, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28906375/correlations-between-clinical-characteristics-and-neuroimaging-in-chinese-patients-with-subtypes-of-frontotemporal-lobe-degeneration
#4
Zhihong Shi, Shuai Liu, Ying Wang, Shuling Liu, Tong Han, Li Cai, Yuying Zhou, Shuo Gao, Yong Ji
The aim of the study was to obtain an overview of the clinical and neuroimaging features of Chinese patients with subtypes of frontotemporal lobe degeneration (FTLD).We evaluated the demographic features, clinical presentation, and lobe atrophy depicted by magnetic resonance imaging (MRI) in 133 patients with FTLD. Two positron emission tomography (PET) scans were performed at baseline: [C]Pittsburgh compound B PET to assess amyloid-β plaque load and [F]fluorodeoxyglucose (FDG) PET to assess glucose metabolism...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28894790/aortic-dissection-and-severe-renal-failure-6-years-after-kidney-transplantation
#5
Amaury Dujardin, Awena Le Fur, Diego Cantarovich
We report the case of a patient with long-term history of hypertension, presenting with transient neurological disorders and severe graft failure several years after kidney transplantation. Cause of end-stage renal disease was hypertensive nephrosclerosis. Chronic hemodialysis lasted for 1 year. After transplantation and throughout follow-up, serum creatinine ranged from 200 to 230 μmol/L and maintenance immunosuppression included sirolimus and low-dose steroids. Six years after transplantation, the patient presented with right hip pain radiating to the lower back, transient aphasia, confusion, and hemiparesis...
September 2017: Transplantation Direct
https://www.readbyqxmd.com/read/28887285/the-occipital-artery-as-an-alternative-donor-for-low-flow-bypass-to-anterior-circulation-after-ica-occlusion-failure-prior-to-exenteration-for-an-atypical-cavernous-sinus-meningioma-a-technical-case-report
#6
Shunya Hanakita, Stéphanie Lenck, Moujahed Labidi, Kentaro Watanabe, Damien Bresson, Sébastien Froelich
BACKGROUND: and Importance: In skull-base tumors involving the cavernous sinus (CS), indications for aggressive resection are sparse and must be carefully examined because of their invasiveness. With careful evaluation, techniques including internal carotid artery (ICA) sacrifice with or without extracranial-intracranial (EC-IC) bypass may still be an option in some cases. In addition, previous surgery with the sacrifice of potential donor vessels requires adjusting the revascularization strategy...
September 5, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28879086/emotion-detection-deficits-and-changes-in-personality-traits-linked-to-loss-of-white-matter-integrity-in-primary-progressive-aphasia
#7
Namita Multani, Sebastiano Galantucci, Stephen M Wilson, Tal Shany-Ur, Pardis Poorzand, Matthew E Growdon, Jung Yun Jang, Joel H Kramer, Bruce L Miller, Katherine P Rankin, Maria Luisa Gorno-Tempini, Maria Carmela Tartaglia
Non-cognitive features including personality changes are increasingly recognized in the three PPA variants (semantic-svPPA, non fluent-nfvPPA, and logopenic-lvPPA). However, differences in emotion processing among the PPA variants and its association with white matter tracts are unknown. We compared emotion detection across the three PPA variants and healthy controls (HC), and related them to white matter tract integrity and cortical degeneration. Personality traits in the PPA group were also examined in relation to white matter tracts...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28872040/structural-magnetic-resonance-imaging-in-frontotemporal-lobar-dementia
#8
Anne Bertrand, Sebastian Stroër, Isabelle Le Ber, Marc Teichmann, Didier Dormont
Frontotemporal lobar dementia (FTLD) is a heterogeneous group of neurodegenerative diseases. FTLD encompass: 1) behavioral forms, sometimes associated with amyotrophic lateral sclerosis; 2) linguistic forms (semantic and non-fluent primary progressive aphasia); 3) atypical parkinsonian syndromes (progressive supranuclear palsy and corticobasal syndrome). Standard brain MRI allows for strengthening the clinical suspicion of FTLD, by showing a pattern of atrophy in relation with the patient's clinical symptoms: frontotemporal anterior atrophy in behavioral forms; temporopolar or inferior left frontal atrophy in the linguistic forms; mesencephalic or corticosubcortical hemispheric atrophy in forms with atypical pakinsonism...
September 1, 2017: Gériatrie et Psychologie Neuropsychiatrie du Vieillissement
https://www.readbyqxmd.com/read/28867555/lexical-access-in-semantic-variant-ppa-evidence-for-a-post-semantic-contribution-to-naming-deficits
#9
Stephen M Wilson, Charlotte Dehollain, Sophie Ferrieux, Laura Hook, Marc Teichmann
The most salient clinical symptom of semantic variant primary progressive aphasia (PPA) is a profound and pervasive anomia. These patients' naming impairments have been shown to reflect in large part a domain-general deterioration of conceptual knowledge that impacts both linguistic and non-linguistic processing. However, it is possible that post-semantic stages of lexical access may also contribute to naming deficits. To clarify the stages at which lexical access breaks down in semantic variant PPA, eleven French-speaking patients were asked to name objects, and were then queried for semantic, lexical-syntactic, and word form information pertaining to the items they could not name...
August 31, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28865994/resting-state-functional-connectivity-an-emerging-method-for-the-study-of-language-networks-in-post-stroke-aphasia
#10
Julian Klingbeil, Max Wawrzyniak, Anika Stockert, Dorothee Saur
Aphasia results both from direct effects of focal damage to eloquent cortical areas as well as dysfunction of interconnected remote areas within the language network. Resting-state functional MRI (rsfMRI) can be used to examine functional connectivity (FC) within these networks. Herein we review publications, which applied rsfMRI to understand network pathology in post stroke aphasia. A common finding in this research is an acute disruption of connectivity within the language network, which is correlated with loss of language function and tends to resolve with recovery from aphasia...
August 30, 2017: Brain and Cognition
https://www.readbyqxmd.com/read/28853339/tdq-60-a-color-picture-naming-test-for-adults-and-elderly-people-validation-and-normalization-data
#11
Joël Macoir, Catherine Beaudoin, Josée Bluteau, Olivier Potvin, Maximiliano A Wilson
Word-finding difficulties are usually assessed with picture-naming tests. In this article, we present the TDQ-60, a new test designed to assess acquired lexical access deficits, taking into account semantics and psycholinguistic variables. The article includes three studies. Study 1 describes the development phase of the TDQ-60.  In study 2, healthy control participants and individuals with a diagnosis of the semantic variant of primary progressive aphasia were assessed to establish the convergent and discriminant validity of the TDQ-60...
August 30, 2017: Neuropsychology, Development, and Cognition. Section B, Aging, Neuropsychology and Cognition
https://www.readbyqxmd.com/read/28843341/artificial-grammar-learning-in-vascular-and-progressive-non-fluent-aphasias
#12
Thomas E Cope, Benjamin Wilson, Holly Robson, Rebecca Drinkall, Lauren Dean, Manon Grube, P Simon Jones, Karalyn Patterson, Timothy D Griffiths, James B Rowe, Christopher I Petkov
Patients with non-fluent aphasias display impairments of expressive and receptive grammar. This has been attributed to deficits in processing configurational and hierarchical sequencing relationships. This hypothesis had not been formally tested. It was also controversial whether impairments are specific to language, or reflect domain general deficits in processing structured auditory sequences. Here we used an artificial grammar learning paradigm to compare the abilities of controls to participants with agrammatic aphasia of two different aetiologies: stroke and frontotemporal dementia...
August 24, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28838910/assessment-of-iron-deposition-in-the-brain-in-frontotemporal-dementia-and-its-correlation-with-behavioral-traits
#13
R Sheelakumari, C Kesavadas, T Varghese, R M Sreedharan, B Thomas, J Verghese, P S Mathuranath
BACKGROUND AND PURPOSE: Brain iron deposition has been implicated as a major culprit in the pathophysiology of neurodegeneration. However, the quantitative assessment of iron in behavioral variant frontotemporal dementia and primary progressive aphasia brains has not been performed, to our knowledge. The aim of our study was to investigate the characteristic iron levels in the frontotemporal dementia subtypes using susceptibility-weighted imaging and report its association with behavioral profiles...
August 24, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28813486/differentiating-between-subtypes-of-primary-progressive-aphasia-and-mild-cognitive-impairment-on-a-modified-version-of-the-frontal-behavioral-inventory
#14
Donna C Tippett, Carol B Thompson, Cornelia Demsky, Rajani Sebastian, Amy Wright, Argye E Hillis
Behavioral assessment has been investigated in frontotemporal lobar degeneration and Alzheimer's disease, but has not been explored extensively in subtypes of primary progressive aphasia (PPA). We explored the ability of a modified version of the Frontal Behavioral Inventory (FBI-mod) to discriminate between patients with distinct subtypes of PPA and patients with mild cognitive impairment (MCI). We hypothesized that individuals with nonfluent agrammatic PPA (nfaPPA) would have higher negative behavior scores than other groups and that individuals with semantic variant PPA (svPPA) would have higher disinhibition scores than other groups...
2017: PloS One
https://www.readbyqxmd.com/read/28806993/successful-intravenous-thrombolysis-for-ischemic-stroke-after-reversal-of-dabigatran-anticoagulation-with-idarucizumab-a-case-report
#15
Sergio Agosti, Laura Casalino, Enrico Rocci, Gabriele Zaccone, Eugenia Rota
BACKGROUND: Non-vitamin K antagonist oral anticoagulants, including dabigatran, are currently widely used for the prevention of stroke and systemic embolism in patients with non-valvular atrial fibrillation. Recently, idarucizumab, a monoclonal antibody fragment for immediate reversal of dabigatran-induced anticoagulation, has been introduced into the market to be used in life-threatening bleeding or urgent surgery, allowing for rapid normalization of clotting parameters. The use of idarucizumab is not yet well established in patients presenting with acute ischemic stroke on dabigatran who are candidates for thrombolytic therapy...
August 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28803444/atypical-parkinsonian-syndromes-a-general-neurologist-s-perspective
#16
REVIEW
Angela B Deutschländer, Owen A Ross, Dennis W Dickson, Zbigniew K Wszolek
The differential diagnosis of atypical parkinsonian syndromes is challenging. These severe and often rapidly progressive neurodegenerative disorders are clinically heterogeneous and show significant phenotypic overlap. Here we review clinical, imaging, neuropathologic and genetic features of multiple system atrophy (MSA), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and frontotemporal lobar degeneration (FTLD). The terms CBD and FTLD refer to pathologically confirmed cases of corticobasal syndrome (CBS) and frontotemporal dementia (FTD)...
August 12, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28803212/data-driven-classification-of-patients-with-primary-progressive-aphasia
#17
Paul Hoffman, Seyed Ahmad Sajjadi, Karalyn Patterson, Peter J Nestor
Current diagnostic criteria classify primary progressive aphasia into three variants-semantic (sv), nonfluent (nfv) and logopenic (lv) PPA-though the adequacy of this scheme is debated. This study took a data-driven approach, applying k-means clustering to data from 43 PPA patients. The algorithm grouped patients based on similarities in language, semantic and non-linguistic cognitive scores. The optimum solution consisted of three groups. One group, almost exclusively those diagnosed as svPPA, displayed a selective semantic impairment...
August 10, 2017: Brain and Language
https://www.readbyqxmd.com/read/28796874/do-the-hard-things-first-a-randomized-controlled-trial-testing-the-effects-of-exemplar-selection-on-generalization-following-therapy-for-grammatical-morphology
#18
Amanda Jean Owen Van Horne, Marc Fey, Maura Curran
Purpose: Complexity-based approaches to treatment have been gaining popularity in domains such as phonology and aphasia but have not yet been tested in child morphological acquisition. In this study, we examined whether beginning treatment with easier-to-inflect (easy first) or harder-to-inflect (hard first) verbs led to greater progress in the production of regular past-tense -ed by children with developmental language disorder. Method: Eighteen children with developmental language disorder (ages 4-10) participated in a randomized controlled trial (easy first, N = 10, hard first, N = 8)...
September 18, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
https://www.readbyqxmd.com/read/28791626/fatal-ruxolitinib-related-jc-virus-meningitis
#19
Begoña Ballesta, Héctor González, Vicente Martín, Juan J Ballesta
We report a possible association between ruxolitinib and JC virus meningitis. A 72-year-old man with myelofibrosis started treatment with ruxolitinib. Fourteen days later, the patient presented to the emergency department with fever and nausea. HIV test was negative. Ruxolitinib was suspended. Symptoms progressed with neck stiffness, cognitive impairment, and motor aphasia. CSF was positive for JC virus. MRI showed nonspecific abnormal findings. Five days after the clinical debut, the patient died. The clinical picture, MRI imaging, and positive JC virus PCR in CSF strongly suggest ruxolitinib-related JC virus meningitis...
August 8, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28776480/italian-adaptation-of-the-functional-outcome-questionnaire-aphasia-initial-psychometric-evaluation
#20
Simona Spaccavento, Elisabetta Cafforio, Fara Cellamare, Antonia Colucci, Angela Di Palma, Rosanna Falcone, Angela Craca, Anna Loverre, Roberto Nardulli, Robert L Glueckauf
PURPOSE: To evaluate the psychometric properties of the Italian version of Functional Outcome Questionnaire - Aphasia. METHODS: Two hundred and five persons with stroke-related aphasia and right hemiparesis who received ongoing assistance from a family caregiver were assessed using the Functional Outcome Questionnaire - Aphasia, Aachener Aphasie Test, Token Test, Raven's Coloured Progressive Matrices, Functional Independence Measure (FIM), Functional Assessment Measure (FAM), and Quality of Life Questionnaire for Aphasics (QLQA)...
August 4, 2017: Disability and Rehabilitation
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