{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T17:42:33Z","timestamp":1648662153966},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T00:00:00Z","timestamp":1392163200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1007\/s00415-014-7247-5","type":"journal-article","created":{"date-parts":[[2014,2,11]],"date-time":"2014-02-11T02:30:57Z","timestamp":1392085857000},"page":"747-751","source":"Crossref","is-referenced-by-count":4,"title":["Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1"],"prefix":"10.1007","volume":"261","author":[{"given":"Roberto","family":"Di Fabio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Marcotulli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Tessa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Leonardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenia","family":"Storti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Pierelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Casali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,2,12]]},"reference":[{"key":"7247_CR1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2012.03.025","volume":"318","author":"J Finsterer","year":"2012","unstructured":"Finsterer J, L\u00f6scher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G (2012) Hereditary spastic paraplegias\u00a0with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 318:1\u201318","journal-title":"J Neurol Sci"},{"key":"7247_CR2","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.ajhg.2007.10.001","volume":"82","author":"MK Tsaousidou","year":"2008","unstructured":"Tsaousidou MK, Ouahchi K, Warner TT et al (2008) Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 82:510\u2013515","journal-title":"Am J Hum Genet"},{"key":"7247_CR3","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/j.1399-0004.2011.01624.x","volume":"81","author":"A Arnoldi","year":"2012","unstructured":"Arnoldi A, Crimella C, Tenderini E et al (2012) Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet 81:150\u2013157","journal-title":"Clin Genet"},{"key":"7247_CR4","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1093\/brain\/awp073","volume":"132","author":"C Goizet","year":"2009","unstructured":"Goizet C, Boukhris A, Durr A et al (2009) CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 132:1589\u20131600","journal-title":"Brain"},{"key":"7247_CR5","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1055\/s-0031-1299787","volume":"31","author":"R Sch\u00fcle","year":"2011","unstructured":"Sch\u00fcle R, Sch\u00f6ls L (2011) Genetics of hereditary spastic paraplegias. Semin Neurol 31:484\u2013493","journal-title":"Semin Neurol"},{"key":"7247_CR6","doi-asserted-by":"crossref","unstructured":"Racis L, Tessa A, Di Fabio R et al (2014) The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy. J Neurol 261:52\u201359","DOI":"10.1007\/s00415-013-7151-4"},{"key":"7247_CR7","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.nmd.2008.10.009","volume":"19","author":"R Biancheri","year":"2009","unstructured":"Biancheri R, Ciccolella M, Rossi A et al (2009) White matter lesions in spastic paraplegia with mutations in SPG5\/CYP7B1. Neuromuscul Disord 19:62\u201365","journal-title":"Neuromuscul Disord"},{"key":"7247_CR8","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.clinph.2010.10.025","volume":"122","author":"F Manganelli","year":"2011","unstructured":"Manganelli F, Pisciotta C, Dubbioso R et al (2011) Electrophysiological characterisation in hereditary spastic paraplegia type 5. Clin Neurophysiol 122:819\u2013822","journal-title":"Clin Neurophysiol"},{"key":"7247_CR9","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1111\/j.1468-1331.2008.02332.x","volume":"15","author":"A Damasceno","year":"2008","unstructured":"Damasceno A, Fran\u00e7a MC Jr, Nucci A (2008) Chronic acquired sensory neuron diseases. Eur J Neurol 15:1400\u20131405","journal-title":"Eur J Neurol"},{"key":"7247_CR10","doi-asserted-by":"crossref","first-page":"3614","DOI":"10.1093\/brain\/aws298","volume":"135","author":"VC Neeve","year":"2012","unstructured":"Neeve VC, Samuels DC, Bindoff LA et al (2012) What is influencing the phenotype of the common homozygous polymerase-\u03b3 mutation p.Ala467Thr? Brain 135:3614\u20133626","journal-title":"Brain"},{"key":"7247_CR11","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1515\/BC.2009.035","volume":"390","author":"JM Dietschy","year":"2009","unstructured":"Dietschy JM (2009) Central nervous system: cholesterol turnover, brain development and neurodegeneration. Biol Chem 390:287\u2013293","journal-title":"Biol Chem"},{"key":"7247_CR12","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1194\/jlr.M002543","volume":"51","author":"R Sch\u00fcle","year":"2010","unstructured":"Sch\u00fcle R, Siddique T, Deng HX et al (2010) Marked accumulation of 27-hydroxycholesterol in\u00a0SPG5\u00a0patients with hereditary spastic paresis. J Lipid Res 51:819\u2013823","journal-title":"J Lipid Res"},{"key":"7247_CR13","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.redox.2012.12.001","volume":"1","author":"G Poli","year":"2013","unstructured":"Poli G, Biasi F, Leonarduzzi G (2013) Oxysterols in the pathogenesis of major chronic diseases. Redox Biol 1:125\u2013130","journal-title":"Redox Biol"},{"key":"7247_CR14","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1194\/jlr.M014548","volume":"52","author":"M Shafaati","year":"2011","unstructured":"Shafaati M, Marutle A, Pettersson H et al (2011) Marked accumulation of 27-hydroxycholesterol in the brains of Alzheimer\u2019s patients with the Swedish APP 670\/671 mutation. J Lipid Res 52:1004\u20131010","journal-title":"J Lipid Res"},{"key":"7247_CR15","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1212\/01.WNL.0000069920.42968.8D","volume":"61","author":"PA Wilkinson","year":"2003","unstructured":"Wilkinson PA, Crosby AH, Turner C et al (2003) A clinical and genetic study of SPG5 linked autosomal recessive hereditary\u00a0spastic\u00a0paraplegia. Neurology 61:235\u2013238","journal-title":"Neurology"},{"key":"7247_CR16","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1002\/ajmg.b.30518","volume":"144B","author":"S Klebe","year":"2007","unstructured":"Klebe S, Durr A, Bouslam N et al (2007) Spastic paraplegia 5: locus refinement, candidate gene and clinical description. Am J Med Genet B Neuropsychiatr Genet 144B:854\u2013861","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"7247_CR17","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1097\/MOL.0b013e328362df13","volume":"24","author":"I Bj\u00f6rkhem","year":"2013","unstructured":"Bj\u00f6rkhem I (2013) Cerebrotendinous xanthomatosis. Curr Opin Lipidol 24:283\u2013287","journal-title":"Curr Opin Lipidol"},{"key":"7247_CR18","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1007\/s00415-009-5109-3","volume":"256","author":"C Criscuolo","year":"2009","unstructured":"Criscuolo C, Filla A, Coppola G et al (2009) Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study. J Neurol 256:1252\u20131257","journal-title":"J Neurol"},{"key":"7247_CR19","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1001\/jamaneurol.2013.1956","volume":"70","author":"JL Loureiro","year":"2013","unstructured":"Loureiro JL, Brand\u00e3o E, Ruano L et al (2013) Autosomal dominant spastic paraplegias: a review of 89 families resulting from a Portuguese survey. JAMA Neurol 70:481\u2013487","journal-title":"JAMA Neurol"},{"key":"7247_CR20","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1093\/ptj\/67.2.206","volume":"67","author":"RW Bohannon","year":"1987","unstructured":"Bohannon RW, Smith MB (1987) Interrater reliability of a\u00a0modified\u00a0Ashworth\u00a0scale\u00a0of muscle spasticity. Phys Ther 67:206\u2013207","journal-title":"Phys Ther"},{"key":"7247_CR21","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","volume":"67","author":"R Sch\u00fcle","year":"2006","unstructured":"Sch\u00fcle R, Holland-Letz T, Klimpe S et al (2006) The\u00a0Spastic\u00a0Paraplegia\u00a0Rating\u00a0Scale\u00a0(SPRS): a\u00a0reliable\u00a0and\u00a0valid\u00a0measure\u00a0of disease severity. Neurology 67:430\u2013434","journal-title":"Neurology"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-014-7247-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-014-7247-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-014-7247-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T10:19:06Z","timestamp":1565173146000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-014-7247-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,12]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["7247"],"URL":"https:\/\/doi.org\/10.1007\/s00415-014-7247-5","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,12]]}}}