{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T07:27:47Z","timestamp":1751614067450},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2018,1,29]],"date-time":"2018-01-29T00:00:00Z","timestamp":1517184000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin Neuroradiol"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1007\/s00062-018-0665-5","type":"journal-article","created":{"date-parts":[[2018,1,29]],"date-time":"2018-01-29T16:56:33Z","timestamp":1517244993000},"page":"215-221","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia"],"prefix":"10.1007","volume":"29","author":[{"given":"Franca","family":"Wagner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David S.","family":"Titelbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renate","family":"Engisch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily K.","family":"Coskun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff L.","family":"Waugh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,1,29]]},"reference":[{"key":"665_CR1","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","volume":"1","author":"AE Harding","year":"1983","unstructured":"Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet. 1983;1:1151\u20135.","journal-title":"Lancet"},{"key":"665_CR2","doi-asserted-by":"publisher","first-page":"1384","DOI":"10.1212\/01.wnl.0000294327.66106.3d","volume":"70","author":"C Paisan-Ruiz","year":"2008","unstructured":"Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008;70:1384\u20139.","journal-title":"Neurology"},{"key":"665_CR3","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1007\/s11910-996-0011-1","volume":"6","author":"JK Fink","year":"2006","unstructured":"Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006;6:65\u201376.","journal-title":"Curr Neurol Neurosci Rep"},{"key":"665_CR4","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1017\/S0317167100012968","volume":"40","author":"I Thiffault","year":"2013","unstructured":"Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivi\u00e8re R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupr\u00e9 N, Pr\u00e9vost C, Bouchard JP, Mathieu J, Brais B. Diversity of ARSACS mutations in French-Canadians. Can J Neurol Sci. 2013;40:61\u20136.","journal-title":"Can J Neurol Sci"},{"key":"665_CR5","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, Kawarai T, Orlacchio A. Hereditary spasticity paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol. 2014;261:518\u201339.","journal-title":"Exp. Neurol."},{"key":"665_CR6","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1111\/j.1365-2990.2004.00587.x","volume":"30","author":"GV DeLuca","year":"2004","unstructured":"DeLuca GC, Ebers GC, Esiri MM. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol Appl Neurobiol. 2004;30:576\u201384.","journal-title":"Neuropathol Appl Neurobiol"},{"key":"665_CR7","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1111\/j.1440-1789.2005.00620.x","volume":"25","author":"S Kuru","year":"2005","unstructured":"Kuru S, Sakai M, Konagaya M, Yoshida M, Hashizume Y. Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter. Neuropathology. 2005;25:346\u201352.","journal-title":"Neuropathology"},{"key":"665_CR8","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1002\/1531-8249(200007)48:1<108::AID-ANA17>3.0.CO;2-A","volume":"48","author":"Y Shibasaki","year":"2000","unstructured":"Shibasaki Y, Tanaka H, Iwabuchi K, Kawasaki S, Kondo H, Uekawa K, Ueda M, Kamiya T, Katayama Y, Nakamura A, Takashima H, Nakagawa M, Masuda M, Utsumi H, Nakamuro T, Tada K, Kurohara K, Inoue K, Koike F, Sakai T, Tsuji S, Kobayashi H. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13\u201315. Ann Neurol. 2000;48:108\u201312.","journal-title":"Ann Neurol"},{"key":"665_CR9","doi-asserted-by":"publisher","first-page":"262","DOI":"10.1212\/WNL.62.2.262","volume":"62","author":"C Casali","year":"2004","unstructured":"Casali C, Valente EM, Bertini E, Montagna G, Criscuolo C, De Michele G, Villanova M, Damiano M, Pierallini A, Brancati F, Scarano V, Tessa A, Cricchi F, Grieco GS, Muglia M, Carella M, Martini B, Rossi A, Amabile GA, Nappi G, Filla A, Dallapiccola B, Santorelli FM. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology. 2004;62:262\u20138.","journal-title":"Neurology"},{"key":"665_CR10","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s10048-006-0044-2","volume":"7","author":"G Stevanin","year":"2006","unstructured":"Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics. 2006;7:149\u201356.","journal-title":"Neurogenetics"},{"key":"665_CR11","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1038\/ng1980","volume":"39","author":"G Stevanin","year":"2007","unstructured":"Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A. Mutations in SPG11, encoding spatacsin, are a\u00a0major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007;39:366\u201372.","journal-title":"Nat Genet"},{"key":"665_CR12","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1016\/S0960-8966(98)00055-8","volume":"8","author":"JP Bouchard","year":"1998","unstructured":"Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melan\u00e7on SB. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord. 1998;8:474\u20139.","journal-title":"Neuromuscul Disord"},{"key":"665_CR13","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1111\/j.1552-6569.2008.00327.x","volume":"19","author":"M Riverol","year":"2009","unstructured":"Riverol M, Samaranch L, Pascual B, Pastor P, Irigoyen J, Pastor MA, de Castro P, Masdeu JC. Forceps minor region signal abnormality \u201cears of the lynx\u201d: an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. J\u00a0Neuroimaging. 2009;19:52\u201360.","journal-title":"J Neuroimaging"},{"key":"665_CR14","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1097\/WCO.0b013e3282f190ba","volume":"20","author":"C Depiennea","year":"2007","unstructured":"Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Curr Opin Neurol. 2007;20:674\u201380.","journal-title":"Curr Opin Neurol"},{"key":"665_CR15","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1007\/s00234-006-0148-2","volume":"48","author":"S Dreha-Kulaczewski","year":"2006","unstructured":"Dreha-Kulaczewski S, Dechent P, Helms G, Frahm J, G\u00e4rtner J, Brockmann K. Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI. Neuroradiology. 2006;48:893\u20138.","journal-title":"Neuroradiology"},{"key":"665_CR16","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.3174\/ajnr.A3897","volume":"35","author":"G Aghakhanyan","year":"2014","unstructured":"Aghakhanyan G, Martinuzzi A, Frijia F, Vavla M, Hlavata H, Baratto A, Martino N, Paparella G, Montanaro D. Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices. Ajnr Am J Neuroradiol. 2014;35:1533\u20138.","journal-title":"Ajnr Am J Neuroradiol"},{"key":"665_CR17","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1038\/72769","volume":"24","author":"JC Engert","year":"2000","unstructured":"Engert JC, Berube P, Mercier J, Dor\u00e9 C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melan\u00e7on SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. ARSACS, a\u00a0spastic ataxia common in northeastern Quebec, is caused by mutations in a\u00a0new gene encoding an 11.5-kb ORF. Nat Genet. 2000;24:120\u20135.","journal-title":"Nat Genet"},{"key":"665_CR18","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1017\/S0317167100024793","volume":"5","author":"JP Bouchard","year":"1978","unstructured":"Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci. 1978;5:61\u20139.","journal-title":"Can J Neurol Sci"},{"key":"665_CR19","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1212\/WNL.62.1.10","volume":"62","author":"CM Gomez","year":"2004","unstructured":"Gomez CM. ARSACS goes global. Neurology. 2004;62:10\u20131.","journal-title":"Neurology"},{"key":"665_CR20","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1590\/S0004-282X2009000600036","volume":"67","author":"EK Embirucu","year":"2009","unstructured":"Embiru\u00e7u EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias. 20 types and counting. Arq Neuropsiquiatr. 2009;67:1143\u201356.","journal-title":"Arq. Neuropsiquiatr."},{"key":"665_CR21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/14734220701230466","volume":"6","author":"Y Takiyama","year":"2007","unstructured":"Takiyama Y. Sacsinopathies: sacsin-related ataxia. Cerebellum. 2007;6:1\u20137.","journal-title":"Cerebellum"},{"key":"665_CR22","doi-asserted-by":"publisher","first-page":"1606","DOI":"10.3174\/ajnr.A0603","volume":"28","author":"MH Martin","year":"2007","unstructured":"Martin MH, Bouchard JP, Sylvain M, St-Onge O, Truchon S. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a\u00a0report of MR imaging in 5 patients. AJNR Am J Neuroradiol. 2007;28:1606\u20138.","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"665_CR23","doi-asserted-by":"publisher","first-page":"1790","DOI":"10.1212\/WNL.0b013e3181a60a9a","volume":"72","author":"P VanDamme","year":"2009","unstructured":"Van Damme P, Demaerel P, Spileers W, Robberecht W. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neurology. 2009;72:1790.","journal-title":"Neurology"},{"key":"665_CR24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10048-009-0196-y","volume":"11","author":"M Anheim","year":"2010","unstructured":"Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M. Epidemiological, clinical, paraclinical and molecular study of a\u00a0cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, eastern France: implications for clinical management. Neurogenetics. 2010;11:1\u201312.","journal-title":"Neurogenetics"},{"key":"665_CR25","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1212\/WNL.0b013e3181d7d8a0","volume":"74","author":"A Terracciano","year":"2010","unstructured":"Terracciano A, Foulds NC, Ditchfield A, Bunyan DJ, Crolla JA, Huang S, Santorelli FM, Hammans SR. Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay. Neurology. 2010;74:1152\u20134.","journal-title":"Neurology"},{"key":"665_CR26","series-title":"Handbook of clinical neurology","first-page":"451","volume-title":"Hereditary neuropathies and spinocerebellar atrophies","author":"JP Bouchard","year":"1991","unstructured":"Bouchard JP. Reccesive spastic ataxia of Charlevoix-Saguenay. In: de Jong JMBV, editor. Hereditary neuropathies and spinocerebellar atrophies. Handbook of clinical neurology. Amsterdam: Elsevier; 1991. pp. 451\u20139."},{"key":"665_CR27","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1212\/WNL.0b013e3181f4d86c","volume":"75","author":"J Baets","year":"2010","unstructured":"Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P. Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology. 2010;75:1181\u20138.","journal-title":"Neurology"},{"key":"665_CR28","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1186\/1750-1172-8-41","volume":"15","author":"M Synofzik","year":"2013","unstructured":"Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Sch\u00fcle R, Haack TB, Sch\u00f6ning M, Biskup S, Rudnik-Sch\u00f6neborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Kr\u00fcger S, Kreuz F, Bauer P, Sch\u00f6ls L. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis. 2013;15:41.","journal-title":"Orphanet J Rare Dis"},{"key":"665_CR29","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, Minati L, Fattori F, Erbetta A, Uziel G, D\u2019Arrigo S, Tessa A, Ciano C, Santorelli FM, Savoiardo M, Mariotti C. Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. Eur J Neurol. 2013;20:138\u201346.","journal-title":"Eur J Neurol"},{"key":"665_CR30","volume-title":"The central nervous system: structure and function","author":"P Brodal","year":"2003","unstructured":"Brodal P. The central nervous system: structure and function. Oxford: Oxford University Press; 2003."},{"key":"665_CR31","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, Marin MA, Pablo LE, Tessa A, Barrena MR, Santorelli FM, Nesti C, Modrego P, Tintor\u00e9 M, Berciano J. New findings in the ataxia of Charlevoix-Saguenay. J\u00a0Neurol. 2012;259:869\u201378.","journal-title":"J Neurol"},{"key":"665_CR32","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, Pablo L, Santorelli FM, Benavente I, Modrego P, Tintor\u00e9 M, Berciano J. Is the ataxia of Charlevoix-Saguenay a\u00a0developmental disease? Med Hypotheses. 2011;77:347\u201352.","journal-title":"Med Hypotheses"},{"key":"665_CR33","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1055\/s-0033-1335435","volume":"185","author":"K Goller","year":"2013","unstructured":"Goller K, Reihle C, Meckel S. Infantile ascending hereditary spastic paralysis (IAHSP): MRI findings in a\u00a015-year-old girl. Rofo. 2013;185:768\u20139.","journal-title":"Rofo"}],"container-title":["Clinical Neuroradiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00062-018-0665-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00062-018-0665-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00062-018-0665-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,26]],"date-time":"2019-08-26T16:08:33Z","timestamp":1566835713000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00062-018-0665-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,29]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["665"],"URL":"https:\/\/doi.org\/10.1007\/s00062-018-0665-5","relation":{},"ISSN":["1869-1439","1869-1447"],"issn-type":[{"value":"1869-1439","type":"print"},{"value":"1869-1447","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,29]]},"assertion":[{"value":"22 October 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 January 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical guidelines"}},{"value":"F.\u00a0Wagner, D.S.\u00a0Titelbaum, R.\u00a0Engisch, E.K.\u00a0Coskun and J.L.\u00a0Waugh declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Written informed consent was obtained from both patients.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical standards"}}]}}