{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T03:26:01Z","timestamp":1790047561168,"version":"4.0.1"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T00:00:00Z","timestamp":1718496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T00:00:00Z","timestamp":1718496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["441409627"],"award-info":[{"award-number":["441409627"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Joint Programme on Rare Diseases","award":["825575"],"award-info":[{"award-number":["825575"]}]},{"DOI":"10.13039\/100007195","name":"Universit\u00e0 degli Studi di Napoli Federico II","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007195","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Spastic Paraplegia Type 7 (SPG7) are paradigmatic spastic ataxias (SPAX) with suggested white matter (WM) involvement. Aim of this work was to thoroughly disentangle the degree of WM involvement in these conditions, evaluating both macrostructure and microstructure via the analysis of diffusion MRI (dMRI) data.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Material and methods<\/jats:title>\n                <jats:p>In this multi-center prospective study, ARSACS and SPG7 patients and Healthy Controls (HC) were enrolled, all undergoing a standardized dMRI protocol and a clinimetrics evaluation including the Scale for the Assessment and Rating of Ataxia (SARA). Differences in terms of WM volume or global microstructural WM metrics were probed, as well as the possible occurrence of a spatially defined microstructural WM involvement via voxel-wise analyses, and its correlation with patients\u2019 clinical status.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Data of 37 ARSACS (M\/F\u2009=\u200921\/16; 33.4\u2009\u00b1\u200912.4\u00a0years), 37 SPG7 (M\/F\u2009=\u200924\/13; 55.7\u2009\u00b1\u200910.7\u00a0years), and 29 HC (M\/F\u2009=\u200913\/16; 42.1\u2009\u00b1\u200917.2\u00a0years) were analyzed. While in SPG7, only a mild mean microstructural damage was found compared to HC, ARSACS patients present a severe WM involvement, with a reduced global volume (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), an alteration of all microstructural metrics (all with <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), without a spatially defined pattern of damage but with a prominent involvement of commissural fibers. Finally, in ARSACS, a correlation between microstructural damage and SARA scores was found (<jats:italic>p<\/jats:italic>\u2009=\u20090.004).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>In ARSACS, but not SPG7 patients, we observed a complex and multi-faced involvement of brain WM, with a clinically meaningful widespread loss of axonal and dendritic integrity, secondary demyelination and, overall, a reduction in cellularity and volume.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-024-12505-y","type":"journal-article","created":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T18:01:42Z","timestamp":1718560902000},"page":"5468-5477","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study"],"prefix":"10.1007","volume":"271","author":[{"given":"Alessandra","family":"Scaravilli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Gabusi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Mari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Battocchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bosticardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Schiavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Bender","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Kessler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Brais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"La Piana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart P.","family":"van de Warrenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirco","family":"Cosottini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Timmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"PROSPAX Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Daducci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sch\u00fcle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0300-5160","authenticated-orcid":false,"given":"Sirio","family":"Cocozza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,16]]},"reference":[{"key":"12505_CR1","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/mds.26944","volume":"32","author":"M Synofzik","year":"2017","unstructured":"Synofzik M, Sch\u00fcle R (2017) Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways. Mov Disord 32:332\u2013345. https:\/\/doi.org\/10.1002\/mds.26944","journal-title":"Mov Disord"},{"key":"12505_CR2","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1007\/s12311-021-01345-5","volume":"21","author":"JL Pedroso","year":"2021","unstructured":"Pedroso JL, Vale TC, Fran\u00e7a Junior MC et al (2021) A diagnostic approach to spastic ataxia syndromes. Cerebellum 21:1073\u20131084. https:\/\/doi.org\/10.1007\/s12311-021-01345-5","journal-title":"Cerebellum"},{"key":"12505_CR3","first-page":"191","volume-title":"Handbook of clinical neurology","author":"O Bereznyakova","year":"2018","unstructured":"Bereznyakova O, Dupr\u00e9 N (2018) Chapter 12\u2014spastic ataxias. In: Manto M, Huisman TAGM (eds) Handbook of clinical neurology. Elsevier, Amsterdam, pp 191\u2013203"},{"key":"12505_CR4","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1002\/mds.29397","volume":"38","author":"A Trasch\u00fctz","year":"2023","unstructured":"Trasch\u00fctz A, Adarmes-Gomez AD, Anheim M et al (2023) Autosomal recessive cerebellar ataxias in Europe: frequency, onset, and severity in 677 patients. Mov Disord 38:1109\u20131112. https:\/\/doi.org\/10.1002\/mds.29397","journal-title":"Mov Disord"},{"key":"12505_CR5","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-023-01572-y","author":"G \u00d6z","year":"2023","unstructured":"\u00d6z G, Cocozza S, Henry P-G et al (2023) MR imaging in ataxias: consensus recommendations by the ataxia global initiative working group on MRI biomarkers. Cerebellum. https:\/\/doi.org\/10.1007\/s12311-023-01572-y","journal-title":"Cerebellum"},{"key":"12505_CR6","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1097\/WCO.0000000000000834","volume":"33","author":"G \u00d6z","year":"2020","unstructured":"\u00d6z G, Harding IH, Krahe J, Reetz K (2020) MR imaging and spectroscopy in degenerative ataxias: toward multimodal, multisite, multistage monitoring of neurodegeneration. Curr Opin Neurol 33:451\u2013461. https:\/\/doi.org\/10.1097\/WCO.0000000000000834","journal-title":"Curr Opin Neurol"},{"key":"12505_CR7","doi-asserted-by":"publisher","first-page":"1413","DOI":"10.1038\/s41386-022-01272-x","volume":"47","author":"I Carreira Figueiredo","year":"2022","unstructured":"Carreira Figueiredo I, Borgan F, Pasternak O et al (2022) White-matter free-water diffusion MRI in schizophrenia: a systematic review and meta-analysis. Neuropsychopharmacol 47:1413\u20131420. https:\/\/doi.org\/10.1038\/s41386-022-01272-x","journal-title":"Neuropsychopharmacol"},{"key":"12505_CR8","first-page":"31","volume-title":"Advances in magnetic resonance technology and applications","author":"IO Jelescu","year":"2023","unstructured":"Jelescu IO, Fieremans E (2023) Sensitivity and specificity of diffusion MRI to neuroinflammatory processes. Advances in magnetic resonance technology and applications. Elsevier, Amsterdam, pp 31\u201350"},{"key":"12505_CR9","doi-asserted-by":"publisher","first-page":"3565","DOI":"10.1038\/s41598-023-30502-5","volume":"13","author":"E Lopez-Soley","year":"2023","unstructured":"Lopez-Soley E, Martinez-Heras E, Solana E et al (2023) Diffusion tensor imaging metrics associated with future disability in multiple sclerosis. Sci Rep 13:3565. https:\/\/doi.org\/10.1038\/s41598-023-30502-5","journal-title":"Sci Rep"},{"key":"12505_CR10","doi-asserted-by":"publisher","first-page":"1535","DOI":"10.3174\/ajnr.A7135","volume":"42","author":"MN Parikh","year":"2021","unstructured":"Parikh MN, Chen M, Braimah A et al (2021) Diffusion MRI microstructural abnormalities at term-equivalent age are associated with neurodevelopmental outcomes at 3 years of age in very preterm infants. AJNR Am J Neuroradiol 42:1535\u20131542. https:\/\/doi.org\/10.3174\/ajnr.A7135","journal-title":"AJNR Am J Neuroradiol"},{"key":"12505_CR11","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1007\/s00429-022-02605-8","volume":"228","author":"M DiPiero","year":"2022","unstructured":"DiPiero M, Rodrigues PG, Gromala A, Dean DC (2022) Applications of advanced diffusion MRI in early brain development: a comprehensive review. Brain Struct Funct 228:367\u2013392. https:\/\/doi.org\/10.1007\/s00429-022-02605-8","journal-title":"Brain Struct Funct"},{"key":"12505_CR12","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.nicl.2017.07.011","volume":"16","author":"C Atkinson-Clement","year":"2017","unstructured":"Atkinson-Clement C, Pinto S, Eusebio A, Coulon O (2017) Diffusion tensor imaging in Parkinson\u2019s disease: review and meta-analysis. Neuroimage Clin 16:98\u2013110. https:\/\/doi.org\/10.1016\/j.nicl.2017.07.011","journal-title":"Neuroimage Clin"},{"key":"12505_CR13","doi-asserted-by":"publisher","first-page":"1487","DOI":"10.1016\/j.neuroimage.2006.02.024","volume":"31","author":"SM Smith","year":"2006","unstructured":"Smith SM, Jenkinson M, Johansen-Berg H et al (2006) Tract-based spatial statistics: voxelwise analysis of multi-subject diffusion data. Neuroimage 31:1487\u20131505. https:\/\/doi.org\/10.1016\/j.neuroimage.2006.02.024","journal-title":"Neuroimage"},{"key":"12505_CR14","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1016\/j.neuron.2006.08.012","volume":"51","author":"S Mori","year":"2006","unstructured":"Mori S, Zhang J (2006) Principles of diffusion tensor imaging and its applications to basic neuroscience research. Neuron 51:527\u2013539. https:\/\/doi.org\/10.1016\/j.neuron.2006.08.012","journal-title":"Neuron"},{"key":"12505_CR15","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/j.nurt.2007.05.011","volume":"4","author":"AL Alexander","year":"2007","unstructured":"Alexander AL, Lee JE, Lazar M, Field AS (2007) Diffusion tensor imaging of the brain. Neurotherapeutics 4:316\u2013329. https:\/\/doi.org\/10.1016\/j.nurt.2007.05.011","journal-title":"Neurotherapeutics"},{"key":"12505_CR16","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1111\/j.1468-1331.2012.03815.x","volume":"20","author":"E Prodi","year":"2013","unstructured":"Prodi E, Grisoli M, Panzeri M et al (2013) Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. Eur J Neurol 20:138\u2013146. https:\/\/doi.org\/10.1111\/j.1468-1331.2012.03815.x","journal-title":"Eur J Neurol"},{"key":"12505_CR17","doi-asserted-by":"publisher","first-page":"1952","DOI":"10.3174\/ajnr.A3488","volume":"34","author":"KK Oguz","year":"2013","unstructured":"Oguz KK, Haliloglu G, Temucin C et al (2013) Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay. AJNR Am J Neuroradiol 34:1952\u20131957. https:\/\/doi.org\/10.3174\/ajnr.A3488","journal-title":"AJNR Am J Neuroradiol"},{"key":"12505_CR18","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/mds.22949","volume":"25","author":"T Warnecke","year":"2010","unstructured":"Warnecke T, Duning T, Schirmacher A et al (2010) A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. Mov Disord 25:413\u2013420. https:\/\/doi.org\/10.1002\/mds.22949","journal-title":"Mov Disord"},{"key":"12505_CR19","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1212\/01.wnl.0000266667.91074.fe","volume":"69","author":"T Warnecke","year":"2007","unstructured":"Warnecke T, Duning T, Schwan A et al (2007) A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. Neurology 69:368\u2013375. https:\/\/doi.org\/10.1212\/01.wnl.0000266667.91074.fe","journal-title":"Neurology"},{"key":"12505_CR20","unstructured":"PROSPAX\u2014an integrated multimodal progression chart in spastic ataxias. In: PROSPAX. https:\/\/www.prospax.net\/. Accessed 8 Feb 2024"},{"key":"12505_CR21","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1212\/01.wnl.0000219042.60538.92","volume":"66","author":"T Schmitz-Hubsch","year":"2006","unstructured":"Schmitz-Hubsch T, Du Montcel ST, Baliko L et al (2006) Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 66:1717\u20131720. https:\/\/doi.org\/10.1212\/01.wnl.0000219042.60538.92","journal-title":"Neurology"},{"key":"12505_CR22","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","volume":"67","author":"R Schule","year":"2006","unstructured":"Schule R, Holland-Letz T, Klimpe S et al (2006) The spastic paraplegia rating scale (SPRS): a reliable and valid measure of disease severity. Neurology 67:430\u2013434. https:\/\/doi.org\/10.1212\/01.wnl.0000228242.53336.90","journal-title":"Neurology"},{"key":"12505_CR23","doi-asserted-by":"publisher","first-page":"1261","DOI":"10.1212\/01.WNL.0000156802.15466.79","volume":"64","author":"SH Subramony","year":"2005","unstructured":"Subramony SH, May W, Lynch D et al (2005) Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 64:1261\u20131262. https:\/\/doi.org\/10.1212\/01.WNL.0000156802.15466.79","journal-title":"Neurology"},{"key":"12505_CR24","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1111\/j.1532-5415.2005.53221.x","volume":"53","author":"ZS Nasreddine","year":"2005","unstructured":"Nasreddine ZS, Phillips NA, B\u00e9dirian V et al (2005) The Montreal cognitive assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc 53:695\u2013699. https:\/\/doi.org\/10.1111\/j.1532-5415.2005.53221.x","journal-title":"J Am Geriatr Soc"},{"key":"12505_CR25","doi-asserted-by":"publisher","first-page":"1924","DOI":"10.1016\/j.neuroimage.2012.06.005","volume":"62","author":"RE Smith","year":"2012","unstructured":"Smith RE, Tournier J-D, Calamante F, Connelly A (2012) Anatomically-constrained tractography: improved diffusion MRI streamlines tractography through effective use of anatomical information. Neuroimage 62:1924\u20131938. https:\/\/doi.org\/10.1016\/j.neuroimage.2012.06.005","journal-title":"Neuroimage"},{"key":"12505_CR26","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2019.116137","volume":"202","author":"J-D Tournier","year":"2019","unstructured":"Tournier J-D, Smith R, Raffelt D et al (2019) MRtrix3: a fast, flexible and open software framework for medical image processing and visualisation. Neuroimage 202:116137. https:\/\/doi.org\/10.1016\/j.neuroimage.2019.116137","journal-title":"Neuroimage"},{"key":"12505_CR27","doi-asserted-by":"publisher","first-page":"1582","DOI":"10.1002\/mrm.26059","volume":"76","author":"J Veraart","year":"2016","unstructured":"Veraart J, Fieremans E, Novikov DS (2016) Diffusion MRI noise mapping using random matrix theory. Magn Reson Med 76:1582\u20131593. https:\/\/doi.org\/10.1002\/mrm.26059","journal-title":"Magn Reson Med"},{"key":"12505_CR28","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1016\/j.neuroimage.2016.08.016","volume":"142","author":"J Veraart","year":"2016","unstructured":"Veraart J, Novikov DS, Christiaens D et al (2016) Denoising of diffusion MRI using random matrix theory. Neuroimage 142:394\u2013406. https:\/\/doi.org\/10.1016\/j.neuroimage.2016.08.016","journal-title":"Neuroimage"},{"key":"12505_CR29","doi-asserted-by":"publisher","first-page":"125","DOI":"10.18383\/j.tom.2015.00142","volume":"1","author":"E Gibbs","year":"2015","unstructured":"Gibbs E, Liu C (2015) Feasibility of imaging tissue electrical conductivity by switching field gradients with MRI. Tomography 1:125\u2013135. https:\/\/doi.org\/10.18383\/j.tom.2015.00142","journal-title":"Tomography"},{"key":"12505_CR30","doi-asserted-by":"publisher","first-page":"1335","DOI":"10.1016\/S0730-725X(99)00077-6","volume":"17","author":"MA Horsfield","year":"1999","unstructured":"Horsfield MA (1999) Mapping eddy current induced fields for the correction of diffusion-weighted echo planar images. Magn Reson Imaging 17:1335\u20131345. https:\/\/doi.org\/10.1016\/S0730-725X(99)00077-6","journal-title":"Magn Reson Imaging"},{"key":"12505_CR31","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0112411","volume":"9","author":"H Yamada","year":"2014","unstructured":"Yamada H, Abe O, Shizukuishi T et al (2014) Efficacy of distortion correction on diffusion imaging: comparison of FSL Eddy and Eddy_Correct Using 30 and 60 directions diffusion encoding. PLoS ONE 9:e112411. https:\/\/doi.org\/10.1371\/journal.pone.0112411","journal-title":"PLoS ONE"},{"key":"12505_CR32","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.neuroimage.2017.08.047","volume":"161","author":"J-P Fortin","year":"2017","unstructured":"Fortin J-P, Parker D, Tun\u00e7 B et al (2017) Harmonization of multi-site diffusion tensor imaging data. Neuroimage 161:149\u2013170. https:\/\/doi.org\/10.1016\/j.neuroimage.2017.08.047","journal-title":"Neuroimage"},{"key":"12505_CR33","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/j.nec.2010.12.004","volume":"22","author":"LJ O\u2019Donnell","year":"2011","unstructured":"O\u2019Donnell LJ, Westin C-F (2011) An introduction to diffusion tensor image analysis. Neurosurg Clin N Am 22:185\u2013196. https:\/\/doi.org\/10.1016\/j.nec.2010.12.004","journal-title":"Neurosurg Clin N Am"},{"key":"12505_CR34","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1002\/jmri.1076","volume":"13","author":"D Le Bihan","year":"2001","unstructured":"Le Bihan D, Mangin J, Poupon C et al (2001) Diffusion tensor imaging: concepts and applications. Magn Reson Imaging 13:534\u2013546. https:\/\/doi.org\/10.1002\/jmri.1076","journal-title":"Magn Reson Imaging"},{"key":"12505_CR35","doi-asserted-by":"publisher","first-page":"1000","DOI":"10.1016\/j.neuroimage.2012.03.072","volume":"61","author":"H Zhang","year":"2012","unstructured":"Zhang H, Schneider T, Wheeler-Kingshott CA, Alexander DC (2012) NODDI: practical in vivo neurite orientation dispersion and density imaging of the human brain. Neuroimage 61:1000\u20131016. https:\/\/doi.org\/10.1016\/j.neuroimage.2012.03.072","journal-title":"Neuroimage"},{"key":"12505_CR36","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.neuroimage.2014.10.026","volume":"105","author":"A Daducci","year":"2015","unstructured":"Daducci A, Canales-Rodr\u00edguez EJ, Zhang H et al (2015) Accelerated microstructure imaging via convex optimization (AMICO) from diffusion MRI data. Neuroimage 105:32\u201344. https:\/\/doi.org\/10.1016\/j.neuroimage.2014.10.026","journal-title":"Neuroimage"},{"key":"12505_CR37","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2021.118749","volume":"245","author":"CS Parker","year":"2021","unstructured":"Parker CS, Veale T, Bocchetta M et al (2021) Not all voxels are created equal: reducing estimation bias in regional NODDI metrics using tissue-weighted means. Neuroimage 245:118749. https:\/\/doi.org\/10.1016\/j.neuroimage.2021.118749","journal-title":"Neuroimage"},{"key":"12505_CR38","unstructured":"Andersson JLR, Jenkinson M, Smith S (2007) Non-linear registration aka spatial normalization. FMRIB technial report TR07JA2"},{"key":"12505_CR39","doi-asserted-by":"publisher","first-page":"129","DOI":"10.3988\/jcn.2018.14.2.129","volume":"14","author":"W-S Tae","year":"2018","unstructured":"Tae W-S, Ham B-J, Pyun S-B et al (2018) Current clinical applications of diffusion-tensor imaging in neurological disorders. J Clin Neurol 14:129. https:\/\/doi.org\/10.3988\/jcn.2018.14.2.129","journal-title":"J Clin Neurol"},{"key":"12505_CR40","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/j.wneu.2013.07.083","volume":"82","author":"A Lerner","year":"2014","unstructured":"Lerner A, Mogensen MA, Kim PE et al (2014) Clinical applications of diffusion tensor imaging. World Neurosurg 82:96\u2013109. https:\/\/doi.org\/10.1016\/j.wneu.2013.07.083","journal-title":"World Neurosurg"},{"key":"12505_CR41","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1016\/j.mehy.2011.05.011","volume":"77","author":"J Gazulla","year":"2011","unstructured":"Gazulla J, Vela AC, Mar\u00edn MA et al (2011) Is the ataxia of Charlevoix-Saguenay a developmental disease? Med Hypotheses 77:347\u2013352. https:\/\/doi.org\/10.1016\/j.mehy.2011.05.011","journal-title":"Med Hypotheses"},{"key":"12505_CR42","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1007\/s00415-011-6269-5","volume":"259","author":"J Gazulla","year":"2012","unstructured":"Gazulla J, Benavente I, Vela AC et al (2012) New findings in the ataxia of Charlevoix-Saguenay. J Neurol 259:869\u2013878. https:\/\/doi.org\/10.1007\/s00415-011-6269-5","journal-title":"J Neurol"},{"key":"12505_CR43","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1016\/j.neuroimage.2008.09.041","volume":"44","author":"JE Lee","year":"2009","unstructured":"Lee JE, Chung MK, Lazar M et al (2009) A study of diffusion tensor imaging by tissue-specific, smoothing-compensated voxel-based analysis. Neuroimage 44:870\u2013883. https:\/\/doi.org\/10.1016\/j.neuroimage.2008.09.041","journal-title":"Neuroimage"},{"key":"12505_CR44","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneumeth.2020.108908","volume":"346","author":"K Kamiya","year":"2020","unstructured":"Kamiya K, Hori M, Aoki S (2020) NODDI in clinical research. J Neurosci Methods 346:108908. https:\/\/doi.org\/10.1016\/j.jneumeth.2020.108908","journal-title":"J Neurosci Methods"},{"key":"12505_CR45","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1073\/pnas.1113166109","volume":"109","author":"M Girard","year":"2012","unstructured":"Girard M, Larivi\u00e8re R, Parfitt DA et al (2012) Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci USA 109:1661\u20131666. https:\/\/doi.org\/10.1073\/pnas.1113166109","journal-title":"Proc Natl Acad Sci USA"},{"key":"12505_CR46","doi-asserted-by":"publisher","first-page":"a001784","DOI":"10.1101\/cshperspect.a001784","volume":"2","author":"EC Engle","year":"2010","unstructured":"Engle EC (2010) Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol 2:a001784\u2013a001784. https:\/\/doi.org\/10.1101\/cshperspect.a001784","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"12505_CR47","doi-asserted-by":"publisher","first-page":"254","DOI":"10.3978\/j.issn.2223-4292.2012.12.05","volume":"2","author":"GP Winston","year":"2012","unstructured":"Winston GP (2012) The physical and biological basis of quantitative parameters derived from diffusion MRI. Quant Imaging Med Surg 2:254\u2013265. https:\/\/doi.org\/10.3978\/j.issn.2223-4292.2012.12.05","journal-title":"Quant Imaging Med Surg"},{"key":"12505_CR48","doi-asserted-by":"publisher","first-page":"299","DOI":"10.3390\/cells11020299","volume":"11","author":"F Murtinheira","year":"2022","unstructured":"Murtinheira F, Migueis M, Letra-Vilela R et al (2022) Sacsin deletion induces aggregation of glial intermediate filaments. Cells 11:299. https:\/\/doi.org\/10.3390\/cells11020299","journal-title":"Cells"},{"key":"12505_CR49","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1016\/j.it.2020.07.007","volume":"41","author":"F Giovannoni","year":"2020","unstructured":"Giovannoni F, Quintana FJ (2020) The role of astrocytes in CNS inflammation. Trends Immunol 41:805\u2013819. https:\/\/doi.org\/10.1016\/j.it.2020.07.007","journal-title":"Trends Immunol"},{"key":"12505_CR50","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1038\/s41582-021-00616-3","volume":"18","author":"A Abdelhak","year":"2022","unstructured":"Abdelhak A, Foschi M, Abu-Rumeileh S et al (2022) Blood GFAP as an emerging biomarker in brain and spinal cord disorders. Nat Rev Neurol 18:158\u2013172. https:\/\/doi.org\/10.1038\/s41582-021-00616-3","journal-title":"Nat Rev Neurol"},{"key":"12505_CR51","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1186\/s13041-019-0438-3","volume":"12","author":"R Larivi\u00e8re","year":"2019","unstructured":"Larivi\u00e8re R, Sgarioto N, M\u00e1rquez BT et al (2019) Sacs R272C missense homozygous mice develop an ataxia phenotype. Mol Brain 12:19. https:\/\/doi.org\/10.1186\/s13041-019-0438-3","journal-title":"Mol Brain"},{"key":"12505_CR52","doi-asserted-by":"publisher","first-page":"983","DOI":"10.1007\/s00234-021-02682-2","volume":"63","author":"S Cocozza","year":"2021","unstructured":"Cocozza S, Pontillo G, De Michele G et al (2021) Conventional MRI findings in hereditary degenerative ataxias: a pictorial review. Neuroradiology 63:983\u2013999. https:\/\/doi.org\/10.1007\/s00234-021-02682-2","journal-title":"Neuroradiology"},{"key":"12505_CR53","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1016\/j.expneurol.2014.06.011","volume":"261","author":"T Lo Giudice","year":"2014","unstructured":"Lo Giudice T, Lombardi F, Santorelli FM et al (2014) Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 261:518\u2013539. https:\/\/doi.org\/10.1016\/j.expneurol.2014.06.011","journal-title":"Exp Neurol"},{"key":"12505_CR54","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1172\/JCI200420138","volume":"113","author":"F Ferreirinha","year":"2004","unstructured":"Ferreirinha F, Quattrini A, Pirozzi M et al (2004) Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113:231\u2013242. https:\/\/doi.org\/10.1172\/JCI200420138","journal-title":"J Clin Invest"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12505-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-024-12505-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12505-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T15:21:45Z","timestamp":1723476105000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-024-12505-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,16]]},"references-count":54,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["12505"],"URL":"https:\/\/doi.org\/10.1007\/s00415-024-12505-y","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,16]]},"assertion":[{"value":"3 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 June 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"SC have received fees for Advisory Board by Amicus. All other co-authors have no possible financial conflict of interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The study was approved by local Ethics Committee of each center and written informed consent was obtained from each participant.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}