Radiogenomics ofC9orf72Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment

Autor: Luke W. Bonham, Ethan G. Geier, Daniel W. Sirkis, Josiah K. Leong, Eliana Marisa Ramos, Qing Wang, Anna Karydas, Suzee E. Lee, Virginia E. Sturm, Russell P. Sawyer, Adit Friedberg, Justin K. Ichida, Aaron D. Gitler, Leo Sugrue, Michael Cordingley, Walter Bee, Eckard Weber, Joel H. Kramer, Katherine P. Rankin, Howard J. Rosen, Adam L. Boxer, William W. Seeley, John Ravits, Bruce L. Miller, Jennifer S. Yokoyama

Publikováno v: The Journal of Neuroscience. 43:333-345

Hexanucleotide repeat expansion (HRE) withinC9orf72is the most common genetic cause of frontotemporal dementia (FTD). Thalamic atrophy occurs in both sporadic and familial FTD but is thought to distinctly affect HRE carriers. Separately, emerging evi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5cfdbe4480f987d12b252f86e4c33446
https://doi.org/10.1523/jneurosci.1448-22.2022

Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment

Autor: Luke W. Bonham, Ethan G. Geier, Daniel W. Sirkis, Josiah K. Leong, Eliana Marisa Ramos, Qing Wang, Anna Karydas, Suzee E. Lee, Virginia E. Sturm, Russell P. Sawyer, Adit Friedberg, Justin K. Ichida, Aaron D. Gitler, Leo Sugrue, Michael Cordingley, Walter Bee, Eckard Weber, Joel Kramer, Katherine P. Rankin, Howard J. Rosen, Adam L. Boxer, William W. Seeley, John Ravits, Bruce L. Miller, Jennifer S. Yokoyama

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 43, iss 2

Hexanucleotide repeat expansion (HRE) within C9orf72 is the most common genetic cause of frontotemporal dementia (FTD). Thalamic atrophy occurs in both sporadic and familial FTD but is thought to distinctly affect HRE carriers. Separately, emerging e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26db290663368430e8978af72589564d
https://escholarship.org/uc/item/7jr289cm

Emergent visual creativity in frontotemporal dementia is associated with dorsomedial visual cortex enhancement

Autor: Adit Friedberg, Lorenzo Pasquini, Ryan Diggs, Erika A. Glaubitz, Lucia Lopez, Ignacio Illán-Gala, Leonardo Iaccarino, Renaud La Joie, Nidhi Mundada, Jesse Brown, Isabel Elaine Allen, Katherine P. Rankin, Luke W. Bonham, Jennifer S. Yokoyama, Eliana M. Ramos, Daniel H. Geschwind, Salvatore Spina, Lea T. Grinberg, Zachary A. Miller, Joel H. Kramer, Howard Rosen, Maria Luisa Gorno-Tempini, Gil Rabinovici, William W. Seeley, Bruce L. Miller

IMPORTANCEThe neurological substrates of visual creativity are unknown. We demonstrate the role of dorsomedial visual cortex in emergence of visual artistic creativity (VAC) in the setting of dementia. Our findings illuminate neural substrates of hum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e4f473d1bb215e5e422788e990f61dfa
https://doi.org/10.1101/2022.05.31.22275081

Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration

Autor: Oriol Dols-Icardo, Joel H. Kramer, Neus Falgàs, Alberto Lleó, Nicole Rogers, Rafael Blesa, Sergi Borrego-Écija, Albert Lladó, Miguel A Santos-Santos, Daniel Alcolea, Adam L. Boxer, Sheila Castro-Suarez, Maria Luisa Gorno Tempini, Adit Friedberg, Raquel Sánchez-Valle, Jordi Clarimón, David C. Perry, Howard J. Rosen, Aldo Quattrone, Amy Wolf, Andrea Quattrone, Bruce L. Miller, Salvatore Spina, Ophir Keret, Salvatore Nigro, Didem Oz, Lea T. Grinberg, Ignacio Illán-Gala, Yann Cobigo, William W. Seeley, Juan Fortea, Gil D. Rabinovici, Kyan Younes

Publikováno v: JAMA network open 4 (2021): e211290. doi:10.1001/jamanetworkopen.2021.1290
info:cnr-pdr/source/autori:Ignacio Illán-Gala 1 2, Neus Falgàs 2 3, Adit Friedberg 2, Sheila Castro-Suárez 2, Ophir Keret 2, Nicole Rogers 2, Didem Oz 2, Salvatore Nigro 4, Andrea Quattrone 5, Aldo Quattrone 4 6, Amy Wolf 7, Kyan Younes 7, Miguel Santos-Santos 1, Sergi Borrego-Écija 3, Yann Cobigo 7, Oriol Dols-Icardo 1, Albert Lladó 3, Raquel Sánchez-Valle 3, Jordi Clarimon 1, Rafael Blesa 1, Daniel Alcolea 1, Juan Fortea 1, Alberto Lleó 1, Lea T Grinberg 7, Salvatore Spina 7, Joel H Kramer 7, Gil D Rabinovici 7, Adam Boxer 7, Maria Luisa Gorno Tempini 7, Bruce L Miller 7, William W Seeley 7, Howard J Rosen 7, David C Perry 7/titolo:Diagnostic Utility of Measuring Cerebral Atrophy in the Behavioral Variant of Frontotemporal Dementia and Association With Clinical Deterioration/doi:10.1001%2Fjamanetworkopen.2021.1290/rivista:JAMA network open/anno:2021/pagina_da:e211290/pagina_a:/intervallo_pagine:e211290/volume:4
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
JAMA Network Open

Key Points Question Can widely available measures of atrophy on magnetic resonance imaging increase diagnostic certainty of underlying frontotemporal lobar degeneration (FTLD) and estimate clinical deterioration in the behavioral variant of frontotem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a3007457e3fd12a1d3d2017620533a
http://www.cnr.it/prodotto/i/448076

Efficacy of Parenteral Amantadine Therapy in the Treatment of Multiple System Atrophy With Predominant Parkinsonism

Autor: Ilana Schlesinger, Maria Nassar, Ilana Erikh, Adit Friedberg, Elliot Sprecher

Publikováno v: Clinical neuropharmacology. 41(5)

Objective The aim of this study was to assess clinical response to a high-dose intravenous (IV) amantadine given for 5 consecutive days in patients with multiple system atrophy parkinsonism (MSA-P). Methods Subjects with a diagnosis of MSA-P treated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2533b516573006f48a4e417df129e6af
https://pubmed.ncbi.nlm.nih.gov/30024441