{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T21:28:18Z","timestamp":1782509298000,"version":"3.54.5"},"reference-count":87,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,15]],"date-time":"2022-07-15T00:00:00Z","timestamp":1657843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2011-02351217"],"award-info":[{"award-number":["GR-2011-02351217"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2013-02357415"],"award-info":[{"award-number":["GR-2013-02357415"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RF-2011-02351193"],"award-info":[{"award-number":["RF-2011-02351193"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007801","name":"Agenzia di Ricerca per la Sclerosi Laterale Amiotrofica","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Mutations in the <jats:italic>TARDBP<\/jats:italic> gene are a rare cause of genetic motor neuron disease (MND). Morphologic MRI characteristics of MND patients carrying this mutation have been poorly described. Our objective was to investigate distinctive clinical and MRI features of a relatively large sample of MND patients carrying <jats:italic>TARDBP<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eleven MND patients carrying a <jats:italic>TARDBP<\/jats:italic> mutation were enrolled. Eleven patients with sporadic MND (sMND) and no genetic mutations were also selected and individually matched by age, sex, clinical presentation and disease severity, along with 22 healthy controls. Patients underwent clinical and cognitive evaluations, as well as 3D T1-weighted and diffusion tensor (DT) MRI on a 3 Tesla scanner. Gray matter (GM) atrophy was first investigated at a whole-brain level using voxel-based morphometry (VBM). GM volumes and DT MRI metrics of the main white matter (WM) tracts were also obtained. Clinical, cognitive and MRI features were compared between groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>MND with <jats:italic>TARDBP<\/jats:italic> mutations was associated with all possible clinical phenotypes, including isolated upper\/lower motor neuron involvement, with no predilection for bulbar or limb involvement at presentation. Greater impairment at naming tasks was found in TARDBP mutation carriers compared with sMND. VBM analysis showed significant atrophy of the right lateral parietal cortex in <jats:italic>TARDBP<\/jats:italic> patients, compared with controls. A distinctive reduction of GM volumes was found in the left precuneus and right angular gyrus of <jats:italic>TARDBP<\/jats:italic> patients compared to controls. WM microstructural damage of the corticospinal tract (CST) and inferior longitudinal fasciculi (ILF) was found in both sMND and <jats:italic>TARDBP<\/jats:italic> patients, compared with controls, although decreased fractional anisotropy of the right CST and increased axial diffusivity of the left ILF (<jats:italic>p<\/jats:italic> = 0.017) was detected only in <jats:italic>TARDBP<\/jats:italic> mutation carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>TARDBP<\/jats:italic> patients showed a distinctive parietal pattern of cortical atrophy and greater damage of motor and extra-motor WM tracts compared with controls, which sMND patients matched for disease severity and clinical presentation were lacking. Our findings suggest that TDP-43 pathology due to <jats:italic>TARDBP<\/jats:italic> mutations may cause deeper morphologic alterations in both GM and WM.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fneur.2022.931006","type":"journal-article","created":{"date-parts":[[2022,7,15]],"date-time":"2022-07-15T07:09:44Z","timestamp":1657868984000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations"],"prefix":"10.3389","volume":"13","author":[{"given":"Edoardo Gioele","family":"Spinelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alma","family":"Ghirelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilo","family":"Riva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Canu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Castelnovo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teuta","family":"Domi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pozzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Carrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Silani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Chi\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Filippi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Agosta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,7,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1038\/nature20413","article-title":"Decoding ALS: from genes to mechanism","volume":"539","author":"Taylor","year":"2016","journal-title":"Nature."},{"key":"B2","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1586\/14737175.2015.1034108","article-title":"Motor neuron disease-frontotemporal dementia: a clinical continuum","volume":"15","author":"Devenney","year":"2015","journal-title":"Expert Rev Neurother."},{"key":"B3","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1016\/j.bbadis.2006.01.004","article-title":"Genetics of familial and sporadic amyotrophic lateral sclerosis","volume":"1762","author":"Gros-Louis","year":"2006","journal-title":"Biochim Biophys Acta."},{"key":"B4","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1212\/01.wnl.0000296811.19811.db","article-title":"Genetics of familial amyotrophic lateral sclerosis","volume":"70","author":"Valdmanis","year":"2008","journal-title":"Neurology."},{"key":"B5","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/S1474-4422(17)30401-5","article-title":"Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications","volume":"17","author":"Chia","year":"2018","journal-title":"Lancet Neurol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1136\/jnnp-2016-315018","article-title":"Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis","volume":"88","author":"Zou","year":"2017","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B7","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1002\/ana.24306","article-title":"Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes","volume":"77","author":"Cady","year":"2015","journal-title":"Ann Neurol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1983","DOI":"10.1212\/WNL.0b013e3182735d36","article-title":"Extensive genetics of ALS: a population-based study in Italy","volume":"79","author":"Chi\u00f2","year":"2012","journal-title":"Neurology."},{"key":"B9","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1136\/jmedgenet-2013-101795","article-title":"Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing","volume":"50","author":"Kenna","year":"2013","journal-title":"J Med Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1159\/000109758","article-title":"TDP-43 proteinopathies: neurodegenerative protein misfolding diseases without amyloidosis","volume":"16","author":"Kwong","year":"2008","journal-title":"Neurosignals."},{"key":"B11","doi-asserted-by":"publisher","first-page":"867","DOI":"10.2741\/2727","article-title":"Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease","volume":"13","author":"Buratti","year":"2008","journal-title":"Front Biosci."},{"key":"B12","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1016\/S1474-4422(10)70195-2","article-title":"TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia","volume":"9","author":"Mackenzie","year":"2010","journal-title":"Lancet Neurol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1668","DOI":"10.1126\/science.1154584","article-title":"TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis","volume":"319","author":"Sreedharan","year":"2008","journal-title":"Science."},{"key":"B14","doi-asserted-by":"publisher","first-page":"E974","DOI":"10.1002\/humu.21100","article-title":"Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease","volume":"30","author":"Borroni","year":"2009","journal-title":"Hum Mutat."},{"key":"B15","doi-asserted-by":"publisher","first-page":"1002","DOI":"10.1001\/archneurol.2010.173","article-title":"Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations","volume":"67","author":"Chi\u00f2","year":"2010","journal-title":"Arch Neurol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1007\/s00415-014-7575-5","article-title":"Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations","volume":"262","author":"Floris","year":"2015","journal-title":"J Neurol."},{"key":"B17","doi-asserted-by":"publisher","first-page":"292","DOI":"10.3109\/21678421.2015.1111905","article-title":"A single nucleotide TDP-43 mutation within a Taiwanese family: a multifaceted demon","volume":"17","author":"Cheng","year":"2016","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener."},{"key":"B18","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1111\/nan.12063","article-title":"TARDBP mutation p.Ile383Val associated with semantic dementia and complex proteinopathy","volume":"40","author":"Gelpi","year":"2014","journal-title":"Neuropathol Appl Neurobiol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1843","DOI":"10.1002\/mds.22697","article-title":"TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea","volume":"24","author":"Kovacs","year":"2009","journal-title":"Mov Disord."},{"key":"B20","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1007\/s10048-011-0288-3","article-title":"Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in sardinia","volume":"12","author":"Quadri","year":"2011","journal-title":"Neurogenetics."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1212.e1","DOI":"10.1016\/j.neurobiolaging.2013.10.092","article-title":"Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease","volume":"35","author":"Synofzik","year":"2014","journal-title":"Neurobiol Aging."},{"key":"B22","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1002\/ana.21612","article-title":"TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration","volume":"65","author":"Benajiba","year":"2009","journal-title":"Ann Neurol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"e311","DOI":"10.1093\/brain\/awu265","article-title":"Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis","volume":"137","author":"Johnson","year":"2014","journal-title":"Brain."},{"key":"B24","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1523\/JNEUROSCI.4988-09.2010","article-title":"Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis","volume":"30","author":"Barmada","year":"2010","journal-title":"J Neurosci."},{"key":"B25","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.nbd.2014.12.010","article-title":"TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca2+ signaling in motor neurons","volume":"75","author":"Mutihac","year":"2015","journal-title":"Neurobiol Dis."},{"key":"B26","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.ensci.2018.04.001","article-title":"TARDBP p.G376D mutation, found in rapid progressive familial ALS, induces mislocalization of TDP-43","volume":"11","author":"Mitsuzawa","year":"2018","journal-title":"eNeurologicalSci."},{"key":"B27","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.1093\/hmg\/ddr021","article-title":"TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1","volume":"20","author":"McDonald","year":"2011","journal-title":"Hum Mol Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1128\/MCB.01279-10","article-title":"TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor","volume":"31","author":"Dewey","year":"2011","journal-title":"Mol Cell Biol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"13318","DOI":"10.1073\/pnas.1008227107","article-title":"ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS\/TLS","volume":"107","author":"Ling","year":"2010","journal-title":"Proc Natl Acad Sci USA."},{"key":"B30","doi-asserted-by":"publisher","first-page":"3641","DOI":"10.1074\/jbc.M112.433615","article-title":"Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins","volume":"288","author":"Watanabe","year":"2013","journal-title":"J Biol Chem."},{"key":"B31","doi-asserted-by":"publisher","first-page":"4309","DOI":"10.1073\/pnas.1317317111","article-title":"Disease causing mutants of TDP-43 nucleic acid binding domains are resistant to aggregation and have increased stability and half-life","volume":"111","author":"Austin","year":"2014","journal-title":"Proc Natl Acad Sci USA."},{"key":"B32","doi-asserted-by":"publisher","first-page":"e1594","DOI":"10.1212\/WNL.0000000000012702","article-title":"Structural MRI signatures in genetic presentations of the frontotemporal dementia\/motor neuron disease spectrum","volume":"97","author":"Spinelli","year":"2021","journal-title":"Neurology."},{"key":"B33","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1111\/j.1468-1331.2009.02574.x","article-title":"TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations","volume":"16","author":"Del Bo","year":"2009","journal-title":"Eur J Neurol."},{"key":"B34","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1080\/146608200300079536","article-title":"El escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis","volume":"1","author":"Brooks","year":"2000","journal-title":"Amyotroph Lateral Scler Other Motor Neuron Disord."},{"key":"B35","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1093\/brain\/115.2.495","article-title":"Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria","volume":"115","author":"Pringle","year":"1992","journal-title":"Brain."},{"key":"B36","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1007\/s00415-003-0235-9","article-title":"The spectrum of lower motor neuron syndromes","volume":"250","author":"Van Den Berg-Vos","year":"2003","journal-title":"J Neurol."},{"key":"B37","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/S0022-510X(99)00210-5","article-title":"The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS study group (p hase III)","volume":"169","author":"Cedarbaum","year":"1999","journal-title":"J Neurol Sci."},{"key":"B38","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1136\/jnnp-2017-316174","article-title":"TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation","volume":"88","author":"Pozzi","year":"2017","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B39","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron."},{"key":"B40","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/0022-3956(75)90026-6","article-title":"\u201cMini-mental state\u201d. A practical method for grading the cognitive state of patients for the clinician","volume":"12","author":"Folstein","year":"1975","journal-title":"J Psychiatr Res."},{"key":"B41","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1159\/000117297","article-title":"The mental deterioration battery: normative data, diagnostic reliability and qualitative analyses of cognitive impairment. The group for the standardization of the mental deterioration battery","volume":"36","author":"Carlesimo","year":"1996","journal-title":"Eur Neurol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"555","DOI":"10.2466\/pms.1987.65.2.555","article-title":"Verbal and spatial memory span in patients with extrapyramidal diseases","volume":"65","author":"Orsini","year":"1987","journal-title":"Percept Mot Skills."},{"key":"B43","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1007\/s10072-012-1130-x","article-title":"Forward and backward span for verbal and visuo-spatial data: standardization and normative data from an Italian adult population","volume":"34","author":"Monaco","year":"2013","journal-title":"Neurol Sci."},{"key":"B44","first-page":"189","article-title":"Raven's coloured progressive matrices: normative values on 305 adult normal controls","volume":"2","author":"Basso","year":"1987","journal-title":"Funct Neurol."},{"key":"B45","first-page":"278","article-title":"Tre test clinici di ricerca e produzione les-sicale. Taratura su soggetti normali","volume":"47","author":"Novelli","year":"1986","journal-title":"Arch Psicol Neurol Psichiatria"},{"key":"B46","doi-asserted-by":"publisher","first-page":"734","DOI":"10.1016\/S0028-3932(99)00146-3","article-title":"Verbal fluency and executive dysfunction in amyotrophic lateral sclerosis (ALS)","volume":"38","author":"Abrahams","year":"2000","journal-title":"Neuropsychologia."},{"key":"B47","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1007\/s100720200003","article-title":"Rey-Osterrieth complex figure: normative values in an Italian population sample","volume":"22","author":"Caffarra","year":"2002","journal-title":"Neurol Sci."},{"key":"B48","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/0028-3932(94)90134-1","article-title":"The interaction of lexical and sublexical processes in reading, writing and repetition","volume":"32","author":"Miceli","year":"1994","journal-title":"Neuropsychologia."},{"key":"B49","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1093\/brain\/85.4.665","article-title":"The token test: a sensitive test to detect receptive disturbances in aphasics","volume":"85","author":"De Renzi","year":"1962","journal-title":"Brain."},{"key":"B50","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1007\/s10072-007-0791-3","article-title":"The frontal behavioural inventory (Italian version) differentiates frontotemporal lobar degeneration variants from Alzheimer's disease","volume":"28","author":"Alberici","year":"2007","journal-title":"Neurol Sci."},{"key":"B51","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1080\/21678421.2016.1267768","article-title":"Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): revised diagnostic criteria","volume":"18","author":"Strong","year":"2017","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener."},{"key":"B52","doi-asserted-by":"publisher","first-page":"9","DOI":"10.3109\/21678421.2013.805784","article-title":"Screening for cognition and behaviour changes in ALS","volume":"15","author":"Abrahams","year":"2014","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener."},{"key":"B53","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.neuroimage.2007.07.007","article-title":"A fast diffeomorphic image registration algorithm","volume":"38","author":"Ashburner","year":"2007","journal-title":"Neuroimage."},{"key":"B54","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1038\/s41380-018-0067-8","article-title":"Changes in functional and structural brain connectome along the Alzheimer's disease continuum","volume":"25","author":"Filippi","year":"2020","journal-title":"Mol Psychiatry."},{"key":"B55","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1006\/nimg.2002.1132","article-title":"Improved optimization for the robust and accurate linear registration and motion correction of brain images","volume":"17","author":"Jenkinson","year":"2002","journal-title":"Neuroimage."},{"key":"B56","unstructured":"AnderssonJLR\n          FMRIB technical report TR07JA2Non-Linear Registration, Aka Spatial Normalisation2007"},{"key":"B57","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1007\/s00415-014-7301-3","article-title":"Clinical, cognitive, and behavioural correlates of white matter damage in progressive supranuclear palsy","volume":"261","author":"Agosta","year":"2014","journal-title":"J Neurol."},{"key":"B58","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.bandl.2013.06.003","article-title":"Disruption of structural connectivity along the dorsal and ventral language pathways in patients with nonfluent and semantic variant primary progressive aphasia: a DT MRI study and a literature review","volume":"127","author":"Agosta","year":"2013","journal-title":"Brain Lang."},{"key":"B59","doi-asserted-by":"publisher","first-page":"1710","DOI":"10.1002\/hbm.22286","article-title":"Intrahemispheric and interhemispheric structural network abnormalities in PLS and ALS","volume":"35","author":"Agosta","year":"2014","journal-title":"Hum Brain Mapp."},{"key":"B60","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1016\/j.neuroimage.2006.09.018","article-title":"Probabilistic diffusion tractography with multiple fibre orientations: what can we gain?","volume":"34","author":"Behrens","year":"2007","journal-title":"Neuroimage."},{"key":"B61","doi-asserted-by":"publisher","first-page":"2456","DOI":"10.1093\/brain\/awr179","article-title":"Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia","volume":"134","author":"Rascovsky","year":"2011","journal-title":"Brain."},{"key":"B62","doi-asserted-by":"publisher","first-page":"1006","DOI":"10.1212\/WNL.0b013e31821103e6","article-title":"Classification of primary progressive aphasia and its variants","volume":"76","author":"Gorno-Tempini","year":"2011","journal-title":"Neurology."},{"key":"B63","doi-asserted-by":"publisher","first-page":"1885","DOI":"10.1007\/s10072-017-3005-7","article-title":"Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report","volume":"38","author":"Filippelli","year":"2017","journal-title":"Neurol Sci."},{"key":"B64","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1093\/cercor\/bhp128","article-title":"Expectancy constraints in degraded speech modulate the language comprehension network","volume":"20","author":"Obleser","year":"2010","journal-title":"Cereb Cortex."},{"key":"B65","doi-asserted-by":"publisher","first-page":"1002","DOI":"10.1016\/j.neuroimage.2004.12.013","article-title":"Language in context: emergent features of word, sentence, and narrative comprehension","volume":"25","author":"Xu","year":"2005","journal-title":"Neuroimage."},{"key":"B66","doi-asserted-by":"publisher","first-page":"110","DOI":"10.3389\/fnhum.2016.00110","article-title":"Higher language ability is related to angular gyrus activation increase during semantic processing, independent of sentence incongruency","volume":"10","author":"Van Ettinger-Veenstra","year":"2016","journal-title":"Front Hum Neurosci."},{"key":"B67","doi-asserted-by":"publisher","first-page":"1753","DOI":"10.1093\/brain\/115.6.1753","article-title":"The anatomy of phonological and semantic processing in normal subjects","volume":"115","author":"D\u00e9monet","year":"1992","journal-title":"Brain."},{"key":"B68","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1038\/383254a0","article-title":"Functional anatomy of a common semantic system for words and pictures","volume":"383","author":"Vandenberghe","year":"1996","journal-title":"Nature."},{"key":"B69","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1080\/21678421.2020.1861021","article-title":"Dysfunction of the left angular gyrus may be associated with writing errors in ALS","volume":"22","author":"Sakurai","year":"2021","journal-title":"Amyotroph Lateral Scler Frontotemporal Degener."},{"key":"B70","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1212\/01.wnl.0000167602.38643.29","article-title":"A voxel-based morphometry study of patterns of brain atrophy in ALS and ALS\/FTLD","volume":"65","author":"Chang","year":"2005","journal-title":"Neurology."},{"key":"B71","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1136\/jnnp-2013-306839","article-title":"Cortical thickness in ALS: towards a marker for upper motor neuron involvement","volume":"86","author":"Walhout","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B72","doi-asserted-by":"publisher","first-page":"45","DOI":"10.3389\/fnagi.2018.00045","article-title":"Atrophy in the thalamus but not cerebellum is specific for C9orf72 FTD and ALS patients - an atlas-based volumetric MRI study","volume":"10","author":"Sch\u00f6necker","year":"2018","journal-title":"Front Aging Neurosci."},{"key":"B73","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.neurobiolaging.2017.05.024","article-title":"Structural and functional brain signatures of C9orf72 in motor neuron disease","volume":"57","author":"Agosta","year":"2017","journal-title":"Neurobiol Aging."},{"key":"B74","doi-asserted-by":"publisher","first-page":"1490","DOI":"10.1111\/j.1460-9568.2010.07445.x","article-title":"MRI predictors of long-term evolution in amyotrophic lateral sclerosis","volume":"32","author":"Agosta","year":"2010","journal-title":"Eur J Neurosci."},{"key":"B75","doi-asserted-by":"publisher","first-page":"102315","DOI":"10.1016\/j.nicl.2020.102315","article-title":"Structural MRI outcomes and predictors of disease progression in amyotrophic lateral sclerosis","volume":"27","author":"Spinelli","year":"2020","journal-title":"Neuroimage Clin."},{"key":"B76","doi-asserted-by":"publisher","first-page":"875","DOI":"10.3389\/fnins.2019.00875","article-title":"Inferior longitudinal fasciculus' role in visual processing and language comprehension: a combined MEG-DTI study","volume":"13","author":"Shin","year":"2019","journal-title":"Front Neurosci."},{"key":"B77","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1093\/brain\/awp233","article-title":"Language networks in semantic dementia","volume":"133","author":"Agosta","year":"2010","journal-title":"Brain."},{"key":"B78","doi-asserted-by":"publisher","first-page":"8780","DOI":"10.1523\/JNEUROSCI.0999-11.2011","article-title":"White matter anisotropy in the ventral language pathway predicts sound-to-word learning success","volume":"31","author":"Wong","year":"2011","journal-title":"J Neurosci."},{"key":"B79","doi-asserted-by":"publisher","first-page":"18035","DOI":"10.1073\/pnas.0805234105","article-title":"Ventral and dorsal pathways for language","volume":"105","author":"Saur","year":"2008","journal-title":"Proc Natl Acad Sci USA."},{"key":"B80","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fnsys.2011.00001","article-title":"The neural architecture of the language comprehension network: converging evidence from lesion and connectivity analyses","volume":"5","author":"Turken","year":"2011","journal-title":"Front Syst Neurosci."},{"key":"B81","doi-asserted-by":"publisher","first-page":"44","DOI":"10.3389\/fnsys.2013.00044","article-title":"Toward a pluri-component, multimodal, and dynamic organization of the ventral semantic stream in humans: lessons from stimulation mapping in awake patients","volume":"7","author":"Duffau","year":"2013","journal-title":"Front Syst Neurosci."},{"key":"B82","doi-asserted-by":"publisher","first-page":"1814","DOI":"10.1016\/j.neuropsychologia.2013.06.007","article-title":"Mapping the connectivity underlying multimodal (verbal and non-verbal) semantic processing: a brain electrostimulation study","volume":"51","author":"Moritz-Gasser","year":"2013","journal-title":"Neuropsychologia."},{"key":"B83","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1177\/1073858413513502","article-title":"The language connectome: new pathways, new concepts","volume":"20","author":"Dick","year":"2014","journal-title":"Neuroscientist."},{"key":"B84","doi-asserted-by":"publisher","first-page":"1983","DOI":"10.1007\/s00429-014-0773-1","article-title":"The left inferior fronto-occipital fasciculus subserves language semantics: a multilevel lesion study","volume":"220","author":"Almairac","year":"2015","journal-title":"Brain Struct Funct."},{"key":"B85","doi-asserted-by":"publisher","first-page":"2025","DOI":"10.1093\/brain\/awr119","article-title":"Atrophy, hypometabolism and white matter abnormalities in semantic dementia tell a coherent story","volume":"134","author":"Acosta-Cabronero","year":"2011","journal-title":"Brain."},{"key":"B86","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1097\/WCO.0000000000000147","article-title":"Disorders of emotional processing in amyotrophic lateral sclerosis","volume":"27","author":"Sedda","year":"2014","journal-title":"Curr Opin Neurol."},{"key":"B87","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.cortex.2014.01.002","article-title":"Microstructural white matter correlates of emotion recognition impairment in amyotrophic lateral sclerosis","volume":"53","author":"Crespi","year":"2014","journal-title":"Cortex."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.931006\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,15]],"date-time":"2022-07-15T07:09:49Z","timestamp":1657868989000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2022.931006\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,15]]},"references-count":87,"alternative-id":["10.3389\/fneur.2022.931006"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2022.931006","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,15]]},"article-number":"931006"}}