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Graded, multidimensional intra- and intergroup variations in primary progressive aphasia and post-stroke aphasia.
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In: Brain : a journal of neurology, vol 143, iss 10 (2020)
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| 2 |
More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis.
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In: Chemical senses, vol 45, iss 7 (2020)
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Quantal biomechanical effects in speech postures of the lips.
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In: Journal of neurophysiology, vol 124, iss 3 (2020)
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C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.
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Costa, Beatrice; Manzoni, Claudia; Bernal-Quiros, Manuel; Kia, Demis A; Aguilar, Miquel; Alvarez, Ignacio; Alvarez, Victoria; Andreassen, Ole; Anfossi, Maria; Bagnoli, Silvia; Benussi, Luisa; Bernardi, Livia; Binetti, Giuliano; Blackburn, Daniel; Boada, Mercè; Borroni, Barbara; Bowns, Lucy; Bråthen, Geir; Bruni, Amalia C; Chiang, Huei-Hsin; Clarimon, Jordi; Colville, Shuna; Conidi, Maria E; Cope, Tom E; Cruchaga, Carlos; Cupidi, Chiara; Di Battista, Maria Elena; Diehl-Schmid, Janine; Diez-Fairen, Monica; Dols-Icardo, Oriol; Durante, Elisabetta; Flisar, Dušan; Frangipane, Francesca; Galimberti, Daniela; Gallo, Maura; Gallucci, Maurizio; Ghidoni, Roberta; Graff, Caroline; Grafman, Jordan H; Grossman, Murray; Hardy, John; Hernández, Isabel; Holloway, Guy JT; Huey, Edward D; Illán-Gala, Ignacio; Karydas, Anna; Khoshnood, Behzad; Kramberger, Milica G; Kristiansen, Mark; Lewis, Patrick A; Lleó, Alberto; Madhan, Gaganjit K; Maletta, Raffaele; Maver, Aleš; Menendez-Gonzalez, Manuel; Milan, Graziella; Miller, Bruce; Mol, Merel O; Momeni, Parastoo; Moreno-Grau, Sonia; Morris, Chris M; Nacmias, Benedetta; Nilsson, Christer; Novelli, Valeria; Öijerstedt, Linn; Padovani, Alessandro; Pal, Suvankar; Panchbhaya, Yasmin; Pastor, Pau; Peterlin, Borut; Piaceri, Irene; Pickering-Brown, Stuart; Pijnenburg, Yolande AL; Puca, Annibale A; Rainero, Innocenzo; Rendina, Antonella; Richardson, Anna MT; Rogaeva, Ekaterina; Rogelj, Boris; Rollinson, Sara; Rossi, Giacomina; Rossmeier, Carola; Rowe, James B; Rubino, Elisa; Ruiz, Agustín; Sanchez-Valle, Raquel; Sando, Sigrid B; Santillo, Alexander F; Saxon, Jennifer; Scarpini, Elio; Serpente, Maria; Smirne, Nicoletta; Sorbi, Sandro; Suh, EunRan; Tagliavini, Fabrizio; Thompson, Jennifer C; Trojanowski, John Q; Van Deerlin, Vivianna M; Van der Zee, Julie; Van Broeckhoven, Christine
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In: Neurology, vol 95, iss 24 (2020)
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Abstract:
ObjectiveWe sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases.MethodsWe evaluated expansions frequency in the entire cohort (n = 1,396; behavioral variant frontotemporal dementia [bvFTD] [n = 800], primary progressive aphasia [PPA] [n = 495], and FTLD-motor neuron disease [MND] [n = 101]). We then focused on the bvFTD and PPA cases and tested for association between expansion status, syndromes, genetic ancestry, and AAO applying statistical tests comprising Fisher exact tests, analysis of variance with Tukey post hoc tests, and logistic and nonlinear mixed-effects model regressions.ResultsWe found C9orf72 pathogenic expansions in 4% of all cases (56/1,396). Expansion carriers differently distributed across syndromes: 12/101 FTLD-MND (11.9%), 40/800 bvFTD (5%), and 4/495 PPA (0.8%). While addressing population substructure through principal components analysis (PCA), we defined 2 patients groups with Central/Northern (n = 873) and Southern European (n = 523) ancestry. The proportion of expansion carriers was significantly higher in bvFTD compared to PPA (5% vs 0.8% [p = 2.17 × 10-5; odds ratio (OR) 6.4; confidence interval (CI) 2.31-24.99]), as well as in individuals with Central/Northern European compared to Southern European ancestry (4.4% vs 1.8% [p = 1.1 × 10-2; OR 2.5; CI 1.17-5.99]). Pathogenic expansions and Central/Northern European ancestry independently and inversely correlated with AAO. Our prediction model (based on expansions status, genetic ancestry, and AAO) predicted a diagnosis of bvFTD with 64% accuracy.ConclusionsOur results indicate correlation between pathogenic C9orf72 expansions, AAO, PCA-based Central/Northern European ancestry, and a diagnosis of bvFTD, implying complex genetic risk architectures differently underpinning the behavioral and language variant syndromes.
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Keyword:
80 and over; Age of Onset; Aged; and over; Aphasia; C9orf72 Protein; Clinical Sciences; Cognitive Sciences; Cohort Studies; DNA Repeat Expansion; Europe; Female; Frontotemporal Dementia; Frontotemporal Lobar Degeneration; Geography; Humans; International FTD-Genetics Consortium; Male; Mediterranean Region; Middle Aged; Neurology & Neurosurgery; Neurosciences; Primary Progressive; Principal Component Analysis; Scandinavian and Nordic Countries; Syndrome
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URL: https://escholarship.org/uc/item/2kg2v5g5
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Language disparity is not a significant barrier for time-sensitive care of acute ischemic stroke.
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In: BMC neurology, vol 20, iss 1 (2020)
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Factors that predict diagnostic stability in neurodegenerative dementia.
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In: Journal of neurology, vol 266, iss 8 (2019)
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Factors that predict diagnostic stability in neurodegenerative dementia.
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In: Journal of neurology, vol 266, iss 8 (2019)
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| 8 |
Anomalous morphology in left hemisphere motor and premotor cortex of children who stutter
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| 9 |
Anterior insular thickness predicts speech sound learning ability in bilinguals.
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In: NeuroImage, vol 165 (2018)
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New Directions in Treatments Targeting Stroke Recovery.
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In: Stroke, vol 49, iss 12 (2018)
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| 11 |
Human Sensorimotor Cortex Control of Directly Measured Vocal Tract Movements during Vowel Production.
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In: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 38, iss 12 (2018)
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Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes.
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In: Nature neuroscience, vol 21, iss 12 (2018)
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Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes.
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In: Nature neuroscience, vol 21, iss 12 (2018)
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| 14 |
Peak alpha frequency is a neural marker of cognitive function across the autism spectrum.
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In: The European journal of neuroscience, vol 47, iss 6 (2018)
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| 15 |
Observing conversational laughter in frontotemporal dementia.
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In: Journal of neurology, neurosurgery, and psychiatry, vol 88, iss 5 (2017)
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| 16 |
Observing conversational laughter in frontotemporal dementia.
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In: Journal of neurology, neurosurgery, and psychiatry, vol 88, iss 5 (2017)
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| 17 |
Language structure in the brain: A fixation-related fMRI study of syntactic surprisal in reading.
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| 18 |
Dynamic Structure of Neural Variability in the Cortical Representation of Speech Sounds.
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In: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 36, iss 28 (2016)
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| 19 |
Therapy and clinical trials in frontotemporal dementia: past, present, and future.
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In: Journal of neurochemistry, vol 138 Suppl 1, iss S1 (2016)
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