{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T11:03:47Z","timestamp":1783595027163,"version":"3.55.0"},"publisher-location":"Cham","reference-count":30,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783030602031","type":"print"},{"value":"9783030602048","type":"electronic"}],"license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020]]},"DOI":"10.1007\/978-3-030-60204-8_9","type":"book-chapter","created":{"date-parts":[[2021,1,8]],"date-time":"2021-01-08T11:12:58Z","timestamp":1610104378000},"page":"105-115","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Developmental and Degenerative Cerebellar Pathologies in Peroxisomal \u03b2-Oxidation Deficiency"],"prefix":"10.1007","author":[{"given":"Stephanie","family":"De Munter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myriam","family":"Baes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,9]]},"reference":[{"key":"9_CR1","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1016\/j.bbamcr.2015.11.015","volume":"1863","author":"HR Waterham","year":"2016","unstructured":"Waterham HR, Ferdinandusse S, Wanders RJ (2016) Human disorders of peroxisome metabolism and biogenesis. Biochim Biophys Acta 1863:922\u2013933","journal-title":"Biochim Biophys Acta"},{"key":"9_CR2","doi-asserted-by":"publisher","first-page":"663","DOI":"10.1111\/bpa.12290","volume":"25","author":"S De Munter","year":"2015","unstructured":"De Munter S, Verheijden S, Regal L, Baes M (2015) Peroxisomal disorders: a review on cerebellar pathologies. Brain Pathol 25:663\u2013678","journal-title":"Brain Pathol"},{"key":"9_CR3","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1186\/s13023-015-0368-9","volume":"10","author":"FC Klouwer","year":"2015","unstructured":"Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT (2015) Zellweger spectrum disorders: clinical overview and management approach. Orphanet J Rare Dis 10:151","journal-title":"Orphanet J Rare Dis"},{"key":"9_CR4","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1007\/s10545-005-7059-y","volume":"28","author":"PL Faust","year":"2005","unstructured":"Faust PL, Banka D, Siriratsivawong R, Ng VG, Wikander TM (2005) Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain. J Inherit Metab Dis 28:369\u2013383","journal-title":"J Inherit Metab Dis"},{"key":"9_CR5","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.1212\/WNL.0b013e31825182dc","volume":"78","author":"MS van der Knaap","year":"2012","unstructured":"van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topcu M, Wanders RJ, Waterham HR, Ferdinandusse S (2012) MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology 78:1304\u20131308","journal-title":"Neurology"},{"key":"9_CR6","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1186\/1750-1172-8-174","volume":"8","author":"AM Bams-Mengerink","year":"2013","unstructured":"Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT (2013) The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis 8:174","journal-title":"Orphanet J Rare Dis"},{"key":"9_CR7","doi-asserted-by":"publisher","first-page":"1897","DOI":"10.1093\/hmg\/ddp110","volume":"18","author":"A Teigler","year":"2009","unstructured":"Teigler A, Komljenovic D, Draguhn A, Gorgas K, Just WW (2009) Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum. Hum Mol Genet 18:1897\u20131908","journal-title":"Hum Mol Genet"},{"key":"9_CR8","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1016\/B978-0-444-59565-2.00028-9","volume":"113","author":"P Aubourg","year":"2013","unstructured":"Aubourg P, Wanders R (2013) Peroxisomal disorders. Handb Clin Neurol 113:1593\u20131609","journal-title":"Handb Clin Neurol"},{"key":"9_CR9","doi-asserted-by":"publisher","first-page":"2863","DOI":"10.1194\/jlr.R005959","volume":"51","author":"PP Van Veldhoven","year":"2010","unstructured":"Van Veldhoven PP (2010) Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism. J Lipid Res 51:2863\u20132895","journal-title":"J Lipid Res"},{"key":"9_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/cne.21448","volume":"505","author":"B Ahlemeyer","year":"2007","unstructured":"Ahlemeyer B, Neubert I, Kovacs WJ, Baumgart-Vogt E (2007) Differential expression of peroxisomal matrix and membrane proteins during postnatal development of mouse brain. J Comp Neurol 505:1\u201317","journal-title":"J Comp Neurol"},{"key":"9_CR11","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/(SICI)1097-0029(19990615)45:6<383::AID-JEMT5>3.0.CO;2-7","volume":"45","author":"M Itoh","year":"1999","unstructured":"Itoh M, Suzuki Y, Takashima S (1999) A novel peroxisomal enzyme, D-3-hydroxyacyl-CoA dehydratase\/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein: its expression in the developing human brain. Microsc Res Tech 45:383\u2013388","journal-title":"Microsc Res Tech"},{"key":"9_CR12","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1016\/j.bbadis.2012.03.012","volume":"1822","author":"S Kemp","year":"2012","unstructured":"Kemp S, Berger J, Aubourg P (2012) X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta 1822:1465\u20131474","journal-title":"Biochim Biophys Acta"},{"key":"9_CR13","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1111\/neup.12230","volume":"36","author":"K Ogaki","year":"2016","unstructured":"Ogaki K, Koga S, Aoki N, Lin W, Suzuki K, Ross OA, Dickson DW (2016) Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review. Neuropathology 36:64\u201376","journal-title":"Neuropathology"},{"key":"9_CR14","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1002\/ana.20702","volume":"59","author":"S Ferdinandusse","year":"2006","unstructured":"Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gartner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT (2006) Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol 59:92\u2013104","journal-title":"Ann Neurol"},{"key":"9_CR15","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1002\/humu.20535","volume":"28","author":"S Ferdinandusse","year":"2007","unstructured":"Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, L IJ, Moser AB, Wanders RJ, Waterham HR (2007) Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat 28:904\u2013912","journal-title":"Hum Mutat"},{"key":"9_CR16","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.pediatrneurol.2018.09.001","volume":"90","author":"A Farkas","year":"2019","unstructured":"Farkas A, Al-Ramadhani R, McDonald K, Jordan M, Joyner D (2019) Unusual clinical course and imaging of D-bifunctional protein deficiency, a rare leukodystrophy. Pediatr Neurol 90:70\u201371","journal-title":"Pediatr Neurol"},{"key":"9_CR17","doi-asserted-by":"publisher","first-page":"16329","DOI":"10.1074\/jbc.M001994200","volume":"275","author":"M Baes","year":"2000","unstructured":"Baes M, Huyghe S, Carmeliet P, Declercq PE, Collen D, Mannaerts GP, Van Veldhoven PP (2000) Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids. J Biol Chem 275:16329\u201316336","journal-title":"J Biol Chem"},{"key":"9_CR18","doi-asserted-by":"publisher","first-page":"1321","DOI":"10.2353\/ajpath.2006.041220","volume":"168","author":"S Huyghe","year":"2006","unstructured":"Huyghe S, Schmalbruch H, Hulshagen L, Veldhoven PV, Baes M, Hartmann D (2006) Peroxisomal multifunctional protein-2 deficiency causes motor deficits and glial lesions in the adult central nervous system. Am J Pathol 168:1321\u20131334","journal-title":"Am J Pathol"},{"key":"9_CR19","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.nbd.2013.06.006","volume":"58","author":"S Verheijden","year":"2013","unstructured":"Verheijden S, Bottelbergs A, Krysko O, Krysko DV, Beckers L, De Munter S, Van Veldhoven PP, Wyns S, Kulik W, Nave KA, Ramer MS, Carmeliet P, Kassmann CM, Baes M (2013) Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation. Neurobiol Dis 58:258\u2013269","journal-title":"Neurobiol Dis"},{"key":"9_CR20","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1111\/bpa.12586","volume":"28","author":"S De Munter","year":"2018","unstructured":"De Munter S, Bamps D, Malheiro AR, Kumar Baboota R, Brites P, Baes M (2018) Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency. Brain Pathol 28:631\u2013643","journal-title":"Brain Pathol"},{"key":"9_CR21","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ymgme.2010.02.003","volume":"100","author":"O Krysko","year":"2010","unstructured":"Krysko O, Bottelbergs A, Van Veldhoven P, Baes M (2010) Combined deficiency of peroxisomal beta-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia. Mol Genet Metab 100:71\u201376","journal-title":"Mol Genet Metab"},{"key":"9_CR22","doi-asserted-by":"publisher","first-page":"1606","DOI":"10.1002\/glia.22831","volume":"63","author":"S Verheijden","year":"2015","unstructured":"Verheijden S, Beckers L, Casazza A, Butovsky O, Mazzone M, Baes M (2015) Identification of a chronic non-neurodegenerative microglia activation state in a mouse model of peroxisomal beta-oxidation deficiency. Glia 63:1606\u20131620","journal-title":"Glia"},{"key":"9_CR23","doi-asserted-by":"publisher","first-page":"136","DOI":"10.3389\/fncel.2018.00136","volume":"12","author":"L Beckers","year":"2018","unstructured":"Beckers L, Stroobants S, D'Hooge R, Baes M (2018) Neuronal dysfunction and behavioral abnormalities are evoked by neural cells and aggravated by inflammatory microglia in peroxisomal beta-oxidation deficiency. Front Cell Neurosci 12:136","journal-title":"Front Cell Neurosci"},{"key":"9_CR24","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.nbd.2016.06.012","volume":"94","author":"S De Munter","year":"2016","unstructured":"De Munter S, Verheijden S, Vanderstuyft E, Malheiro AR, Brites P, Gall D, Schiffmann SN, Baes M (2016) Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency. Neurobiol Dis 94:157\u2013168","journal-title":"Neurobiol Dis"},{"key":"9_CR25","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1146\/annurev.neuro.30.051606.094309","volume":"31","author":"KA Nave","year":"2008","unstructured":"Nave KA, Trapp BD (2008) Axon-glial signaling and the glial support of axon function. Annu Rev Neurosci 31:535\u2013561","journal-title":"Annu Rev Neurosci"},{"key":"9_CR26","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0086679","volume":"9","author":"H Fujita","year":"2014","unstructured":"Fujita H, Aoki H, Ajioka I, Yamazaki M, Abe M, Oh-Nishi A, Sakimura K, Sugihara I (2014) Detailed expression pattern of aldolase C (Aldoc) in the cerebellum, retina and other areas of the CNS studied in Aldoc-Venus knock-in mice. PLoS One 9:e86679","journal-title":"PLoS One"},{"key":"9_CR27","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1038\/nrn3886","volume":"16","author":"NL Cerminara","year":"2015","unstructured":"Cerminara NL, Lang EJ, Sillitoe RV, Apps R (2015) Redefining the cerebellar cortex as an assembly of non-uniform Purkinje cell microcircuits. Nat Rev Neurosci 16:79\u201393","journal-title":"Nat Rev Neurosci"},{"key":"9_CR28","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/623257","volume":"2012","author":"A Zarrouk","year":"2012","unstructured":"Zarrouk A, Vejux A, Nury T, El Hajj HI, Haddad M, Cherkaoui-Malki M, Riedinger JM, Hammami M, Lizard G (2012) Induction of mitochondrial changes associated with oxidative stress on very long chain fatty acids (C22:0, C24:0, or C26:0)-treated human neuronal cells (SK-NB-E). Oxidative Med Cell Longev 2012:623257","journal-title":"Oxidative Med Cell Longev"},{"key":"9_CR29","doi-asserted-by":"publisher","first-page":"1776","DOI":"10.1194\/jlr.M900047-JLR200","volume":"50","author":"Y Sugiura","year":"2009","unstructured":"Sugiura Y, Konishi Y, Zaima N, Kajihara S, Nakanishi H, Taguchi R, Setou M (2009) Visualization of the cell-selective distribution of PUFA-containing phosphatidylcholines in mouse brain by imaging mass spectrometry. J Lipid Res 50:1776\u20131788","journal-title":"J Lipid Res"},{"key":"9_CR30","doi-asserted-by":"publisher","first-page":"948","DOI":"10.1007\/s13361-015-1146-6","volume":"26","author":"K Skraskova","year":"2015","unstructured":"Skraskova K, Khmelinskii A, Abdelmoula WM, De Munter S, Baes M, McDonnell L, Dijkstra J, Heeren RM (2015) Precise anatomic localization of accumulated lipids in Mfp2 deficient murine brains through automated registration of SIMS images to the Allen brain Atlas. J Am Soc Mass Spectrom 26:948\u2013957","journal-title":"J Am Soc Mass Spectrom"}],"container-title":["Advances in Experimental Medicine and Biology","Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-030-60204-8_9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,1,8]],"date-time":"2021-01-08T12:36:02Z","timestamp":1610109362000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-030-60204-8_9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"ISBN":["9783030602031","9783030602048"],"references-count":30,"URL":"https:\/\/doi.org\/10.1007\/978-3-030-60204-8_9","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]},"assertion":[{"value":"9 January 2021","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}