{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:42:55Z","timestamp":1790786575837,"version":"4.1.0"},"reference-count":48,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,5,22]],"date-time":"2018-05-22T00:00:00Z","timestamp":1526947200000},"content-version":"vor","delay-in-days":141,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003197","name":"Agenzia Italiana del Farmaco, Ministero della Salute","doi-asserted-by":"publisher","award":["GR09.109"],"award-info":[{"award-number":["GR09.109"]}],"id":[{"id":"10.13039\/501100003197","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/017667"],"award-info":[{"award-number":["2013\/017667"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["303914\/2014-9"],"award-info":[{"award-number":["303914\/2014-9"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["NeuroImage: Clinical"],"published-print":{"date-parts":[[2018]]},"DOI":"10.1016\/j.nicl.2018.05.031","type":"journal-article","created":{"date-parts":[[2018,6,9]],"date-time":"2018-06-09T10:51:19Z","timestamp":1528541479000},"page":"848-857","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":42,"special_numbering":"C","title":["SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage"],"prefix":"10.1016","volume":"19","author":[{"given":"Ingrid","family":"Faber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto Rolim Muro","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thiago Junqueira Ribeiro","family":"de Rezende","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Carlos Roberto","family":"Martins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melina Pazian","family":"Martins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles Marques","family":"Louren\u00e7o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Wilson","family":"Marques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celeste","family":"Montecchiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Orlacchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Luiz","family":"Pedroso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orlando Graziani Povoas","family":"Barsottini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00cdscia","family":"Lopes-Cendes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Marcondes Cavalcante","family":"Fran\u00e7a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nicl.2018.05.031_bb0005","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1002\/hbm.23124","article-title":"Structural brain correlates of cognitive and behavioral impairment in MND","volume":"37","author":"Agosta","year":"2016","journal-title":"Hum. Brain Mapp."},{"key":"10.1016\/j.nicl.2018.05.031_bb0010","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/s00415-009-0083-3","article-title":"SPG11 spastic paraplegia. A new cause of juvenile parkinsonism","volume":"256","author":"Anheim","year":"2009","journal-title":"J. Neurol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0015","doi-asserted-by":"crossref","first-page":"3432","DOI":"10.1093\/hmg\/ddu052","article-title":"Defects in pancreatic development and glucose metabolism in SMN \u2013 depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology","volume":"23","author":"Bowerman","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nicl.2018.05.031_bb0020","doi-asserted-by":"crossref","first-page":"93","DOI":"10.3109\/21678421.2013.852589","article-title":"Spinal cord atrophy correlates with disease duration and severity in amyotrophic lateral sclerosis","volume":"15","author":"Branco","year":"2014","journal-title":"Amyotroph Lateral Scler. Frontotemporal Degener."},{"issue":"2","key":"10.1016\/j.nicl.2018.05.031_bb0025","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1590\/s1980-57642008dn10200015","article-title":"Brazilian adaptation of the Addenbrooke's Cognitive Examination-Revised (ACE-R)","author":"Carvalho","year":"2007","journal-title":"Dement. Neuropsychol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0030","doi-asserted-by":"crossref","first-page":"2308","DOI":"10.1212\/WNL.44.12.2308","article-title":"The neuropsychiatric inventory: comprehensive assessment of psychopathology in dementia","volume":"44","author":"Cummings","year":"1994","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2018.05.031_bb0035","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1038\/ejhg.2013.27","article-title":"Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients","volume":"21","author":"De Bot","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.nicl.2018.05.031_bb0040","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/ene.12559","article-title":"Cerebral cortex involvement in Machado Joseph disease","volume":"22","author":"De Rezende","year":"2015","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0045","doi-asserted-by":"crossref","first-page":"4596","DOI":"10.1093\/cercor\/bhv111","article-title":"Functional organization of social perception and cognition in the superior temporal sulcus","volume":"25","author":"Deen","year":"2015","journal-title":"Cereb. Cortex"},{"key":"10.1016\/j.nicl.2018.05.031_bb0050","first-page":"1723","article-title":"Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions","volume":"139","author":"Denora","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.nicl.2018.05.031_bb0055","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1016\/j.neuroimage.2006.01.021","article-title":"An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest","volume":"31","author":"Desikan","year":"2006","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2018.05.031_bb0060","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1111\/ene.13194","article-title":"A new phenotype associated with homozygous GRN mutations: complicated spastic paraplegia","volume":"24","author":"Faber","year":"2017","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0065","doi-asserted-by":"crossref","first-page":"11050","DOI":"10.1073\/pnas.200033797","article-title":"Measuring the thickness of the human cerebral cortex from magnetic resonance images","volume":"97","author":"Fischl","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nicl.2018.05.031_bb0070","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1001\/archneur.65.4.525","article-title":"Muscle excitability abnormalities in Machado-Joseph disease","volume":"65","author":"Fran\u00e7a","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0075","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jnnp-2011-300129","article-title":"White and grey matter abnormalities in patients with SPG11 mutations","volume":"83","author":"Fran\u00e7a","year":"2012","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nicl.2018.05.031_bb0080","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1002\/humu.22283","article-title":"PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features","volume":"34","author":"Hamosh","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.nicl.2018.05.031_bb0085","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1093\/brain\/awu036","article-title":"Mild cognitive impairment is linked with faster rate of cortical thinning in patients with Parkinson's disease longitudinally","volume":"137","author":"Hanganu","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.nicl.2018.05.031_bb0090","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"10.1016\/j.nicl.2018.05.031_bb0095","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1002\/ana.21310","article-title":"Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia","volume":"62","author":"Hehr","year":"2007","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0100","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.neuroimage.2009.06.043","article-title":"A comparison between voxel-based cortical thickness and voxel-based morphometry in normal aging","volume":"48","author":"Hutton","year":"2009","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2018.05.031_bb0105","doi-asserted-by":"crossref","first-page":"45","DOI":"10.3389\/fnsys.2013.00045","article-title":"The anterior thalamus provides a subcortical circuit supporting memory and spatial navigation","volume":"7","author":"Jankowski","year":"2013","journal-title":"Front. Syst. Neurosci."},{"key":"10.1016\/j.nicl.2018.05.031_bb0110","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.cmpb.2005.08.004","article-title":"DTIStudio: resource program for diffusion tensor computation and fiber bundle tracking","volume":"81","author":"Jiang","year":"2006","journal-title":"Comput. Methods Prog. Biomed."},{"key":"10.1016\/j.nicl.2018.05.031_bb0115","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1093\/brain\/aww111","article-title":"Genetic and phenotypic characterization of complex hereditary spastic paraplegia","volume":"139","author":"Kara","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.nicl.2018.05.031_bb0120","doi-asserted-by":"crossref","first-page":"32","DOI":"10.3389\/fnsys.2013.00032","article-title":"Functional roles of the thalamus for language capacities","volume":"7","author":"Klostermann","year":"2013","journal-title":"Front. Syst. Neurosci."},{"key":"10.1016\/j.nicl.2018.05.031_bb0125","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1016\/j.bbrc.2016.09.065","article-title":"Energy defects in Huntington's disease: why \u201cin vivo\u201d evidence matters","volume":"483","author":"Liot","year":"2017","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.nicl.2018.05.031_bb0130","doi-asserted-by":"crossref","first-page":"2278","DOI":"10.1007\/s00415-016-8254-5","article-title":"Severe axonal neuropathy is a late manifestation of SPG11","volume":"263","author":"Manole","year":"2016","journal-title":"J. Neurol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0135","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1016\/j.nicl.2016.12.012","article-title":"Longitudinal changes in microstructural white matter metrics in Alzheimer's disease","volume":"13","author":"Mayo","year":"2016","journal-title":"Neuroimage Clin."},{"key":"10.1016\/j.nicl.2018.05.031_bb0140","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.clinph.2012.07.025","article-title":"Split-hand index for the diagnosis of amyotrophic lateral sclerosis","volume":"124","author":"Menon","year":"2013","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0145","first-page":"7","article-title":"High-throughput neuroimaging informatics","volume":"17","author":"Miller","year":"2013","journal-title":"Front Neuroinform."},{"key":"10.1016\/j.nicl.2018.05.031_bb0150","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1002\/gps.1610","article-title":"The Addenbrooke's Cognitive Examination Revised (ACE-R): a brief cognitive test battery for dementia screening","volume":"21","author":"Mioshi","year":"2006","journal-title":"Int. J. Geriatr. Psychiatry"},{"key":"10.1016\/j.nicl.2018.05.031_bb0155","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1093\/brain\/awv320","article-title":"SPG11 mutations cause autosomal recessive axonal Charcot-Marie-tooth disease","volume":"139","author":"Montecchiani","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.nicl.2018.05.031_bb0160","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/mus.20421","article-title":"Sural\/radial nerve amplitude ratio: reference values in healthy subjects","volume":"32","author":"Oberbeek","year":"2005","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nicl.2018.05.031_bb0165","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/brain\/awp325","article-title":"SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis","volume":"133","author":"Orlacchio","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.nicl.2018.05.031_bb0170","doi-asserted-by":"crossref","first-page":"990","DOI":"10.3174\/ajnr.A3330","article-title":"Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation","volume":"34","author":"Pan","year":"2013","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.nicl.2018.05.031_bb0175","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/brain\/awu121","article-title":"Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48","volume":"137","author":"Pensato","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.nicl.2018.05.031_bb0180","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.nicl.2018.05.031_bb0185","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1002\/(SICI)1097-4598(199710)20:10<1236::AID-MUS5>3.0.CO;2-D","article-title":"Sural\/radial amplitude ratio in the diagnosis of mild axonal polyneuropathy","volume":"20","author":"Rutkove","year":"1997","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nicl.2018.05.031_bb0190","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1007\/s12311-011-0326-6","article-title":"Body mass index is inversely correlated with the expanded CAG repeat length in SCA3\/MJD patients","volume":"11","author":"Saute","year":"2012","journal-title":"Cerebellum"},{"key":"10.1016\/j.nicl.2018.05.031_bb0195","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","article-title":"The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity","volume":"67","author":"Sch\u00fcle","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.nicl.2018.05.031_bb0200","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1055\/s-0030-1253352","article-title":"Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11","volume":"41","author":"Siri","year":"2010","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nicl.2018.05.031_bb0205","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/s10048-010-0243-8","article-title":"Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish","volume":"11","author":"Southgate","year":"2010","journal-title":"Neurogenetics"},{"key":"10.1016\/j.nicl.2018.05.031_bb0210","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s12311-016-0803-z","article-title":"Hereditary spastic paraplegia: clinical and genetic hallmarks","volume":"16","author":"de Souza","year":"2017","journal-title":"Cerebellum"},{"key":"10.1016\/j.nicl.2018.05.031_bb0215","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/ng1980","article-title":"Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum","volume":"39","author":"Stevanin","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.nicl.2018.05.031_bb0220","article-title":"Multi-contrast multi-atlas parcellation of diffusion tensor imaging of the human brain","volume":"9","author":"Tang","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.nicl.2018.05.031_bb0225","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1109\/MCSE.2014.80","article-title":"XSEDE: accelerating scientific discovery","volume":"16","author":"Towns","year":"2014","journal-title":"Comput. Sci. Eng."},{"key":"10.1016\/j.nicl.2018.05.031_bb0230","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/j.neuroimage.2015.10.042","article-title":"Resource atlases for multi-atlas brain segmentations with multiple ontology levels based on T1-weighted MRI","volume":"125","author":"Wu","year":"2016","journal-title":"NeuroImage"},{"key":"10.1016\/j.nicl.2018.05.031_bb0235","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1002\/hbm.22256","article-title":"DTI correlates of distinct cognitive impairments in Parkinson's disease","volume":"35","author":"Zheng","year":"2014","journal-title":"Hum. Brain Mapp."},{"key":"10.1016\/j.nicl.2018.05.031_bb0240","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1002\/jmri.20727","article-title":"Correction of eddy\u2013current distortions in diffusion tensor images using the known directions and strengths of diffusion gradients","volume":"24","author":"Zhuang","year":"2006","journal-title":"J. Magn. Reson. Imaging"}],"container-title":["NeuroImage: Clinical"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213158218301773?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213158218301773?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T04:09:24Z","timestamp":1761970164000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2213158218301773"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":48,"alternative-id":["S2213158218301773"],"URL":"https:\/\/doi.org\/10.1016\/j.nicl.2018.05.031","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.733519889.793582713","asserted-by":"object"}]},"ISSN":["2213-1582"],"issn-type":[{"value":"2213-1582","type":"print"}],"subject":[],"published":{"date-parts":[[2018]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage","name":"articletitle","label":"Article Title"},{"value":"NeuroImage: Clinical","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nicl.2018.05.031","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}