{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T15:26:52Z","timestamp":1792682812196,"version":"4.5.0"},"reference-count":97,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:00:00Z","timestamp":1701993600000},"content-version":"am","delay-in-days":372,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.ymgme.2021.06.006","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T08:49:25Z","timestamp":1624524565000},"page":"436-444","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["Childhood-onset hereditary spastic paraplegia and its treatable mimics"],"prefix":"10.1016","volume":"137","author":[{"given":"Darius","family":"Ebrahimi-Fakhari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Saffari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip L.","family":"Pearl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2021.06.006_bb0005","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1016\/S1474-4422(19)30235-2","article-title":"Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches","volume":"18","author":"Shribman","year":"2019","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0010","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/mdc3.12184","article-title":"An update on the hereditary spastic paraplegias: new genes and new disease models","volume":"2","author":"Kumar","year":"2015","journal-title":"Mov. Disord. Clin. Pract."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0015","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/B978-0-444-64076-5.00041-7","article-title":"Hereditary spastic paraplegia","volume":"148","author":"Blackstone","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0020","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/brain\/awp056","article-title":"Prevalence of hereditary ataxia and spastic paraplegia in Southeast Norway: a population-based study","volume":"132","author":"Erichsen","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0025","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1001\/jamaneurol.2013.1707","article-title":"Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study","volume":"70","author":"Coutinho","year":"2013","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0030","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.conb.2018.04.025","article-title":"Converging cellular themes for the hereditary spastic paraplegias","volume":"51","author":"Blackstone","year":"2018","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0035","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1002\/mds.27568","article-title":"Movement disorders in treatable inborn errors of metabolism","volume":"34","author":"Ebrahimi-Fakhari","year":"2019","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0040","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/mds.27140","article-title":"International parkinson's disease movement disorders society task force on rare movement, treatable inherited rare movement disorders","volume":"33","author":"Jinnah","year":"2018","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0045","doi-asserted-by":"crossref","first-page":"3112","DOI":"10.1093\/brain\/awx273","article-title":"Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial","volume":"140","author":"Schols","year":"2017","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0050","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1093\/brain\/awp073","article-title":"CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5","volume":"132","author":"Goizet","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0055","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/acn3.51019","article-title":"Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5","volume":"7","author":"Chou","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0060","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1194\/jlr.M002543","article-title":"Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis","volume":"51","author":"Schule","year":"2010","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0065","doi-asserted-by":"crossref","first-page":"117211","DOI":"10.1016\/j.jns.2020.117211","article-title":"Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5","volume":"419","author":"Prestsaeter","year":"2020","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0070","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1093\/brain\/awx297","article-title":"Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5","volume":"141","author":"Marelli","year":"2018","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0075","doi-asserted-by":"crossref","first-page":"e2679","DOI":"10.1212\/WNL.0000000000007606","article-title":"Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7","volume":"92","author":"Coarelli","year":"2019","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0080","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1038\/ejhg.2015.240","article-title":"SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases","volume":"24","author":"Choquet","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0085","doi-asserted-by":"crossref","first-page":"2994","DOI":"10.1093\/brain\/aws224","article-title":"Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort","volume":"135","author":"van Gassen","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0090","doi-asserted-by":"crossref","first-page":"2980","DOI":"10.1093\/brain\/aws240","article-title":"Spastic paraplegia gene 7 in patients with spasticity and\/or optic neuropathy","volume":"135","author":"Klebe","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0095","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1093\/brain\/awh125","article-title":"A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia","volume":"127","author":"Wilkinson","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0100","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/mds.26944","article-title":"Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways","volume":"32","author":"Synofzik","year":"2017","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0105","doi-asserted-by":"crossref","DOI":"10.1002\/mds.28519","article-title":"Brain damage and gene expression across hereditary spastic paraplegia subtypes","author":"Servelhere","year":"2021","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0110","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1093\/brain\/awu060","article-title":"Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance","volume":"137","author":"Pfeffer","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0115","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000122","article-title":"Clinical and genetic study of hereditary spastic paraplegia in Canada","volume":"3","author":"Chrestian","year":"2017","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0120","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.ymgme.2021.06.006_bb0125","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.ymgme.2021.06.006_bb0130","doi-asserted-by":"crossref","first-page":"992","DOI":"10.1016\/j.ajhg.2008.03.004","article-title":"Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome","volume":"82","author":"Hanein","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0135","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000098","article-title":"Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)","volume":"2","author":"Hirst","year":"2016","journal-title":"Neurol. Genet."},{"issue":"4","key":"10.1016\/j.ymgme.2021.06.006_bb0140","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1002\/mds.28487","article-title":"Expanding the spectrum of AP5Z1-related hereditary spastic paraplegia (HSP-SPG48): a multicenter study on a rare disease","volume":"36","author":"Breza","year":"2021","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0145","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.ymgme.2021.06.006_bb0150","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.ymgme.2021.06.006_bb0155","first-page":"2929","article-title":"Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia","volume":"143","author":"Ebrahimi-Fakhari","year":"2020","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0160","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3174\/ajnr.A5935","article-title":"\u201cEars of the Lynx\u201d MRI sign is associated with SPG11 and SPG15 hereditary spastic paraplegia","volume":"40","author":"Pascual","year":"2019","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0165","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1093\/brain\/awv371","article-title":"Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism","volume":"139","author":"Ebrahimi-Fakhari","year":"2016","journal-title":"Brain"},{"issue":"1","key":"10.1016\/j.ymgme.2021.06.006_bb0170","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/jimd.12084","article-title":"Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy","volume":"43","author":"Teinert","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0175","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.nbd.2019.03.026","article-title":"A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five","volume":"127","author":"Khundadze","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0180","doi-asserted-by":"crossref","first-page":"5249","DOI":"10.1172\/JCI77598","article-title":"Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation","volume":"124","author":"Chang","year":"2014","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0185","first-page":"1","article-title":"Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation","volume":"9","author":"Khundadze","year":"2021","journal-title":"Autophagy"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0190","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.ymgme.2012.05.020","article-title":"Neurotransmitter abnormalities and response to supplementation in SPG11","volume":"107","author":"Vanderver","year":"2012","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0195","doi-asserted-by":"crossref","first-page":"E1251","DOI":"10.1002\/humu.21205","article-title":"Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)","volume":"31","author":"Dick","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0200","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1093\/brain\/awz102","article-title":"FAHN\/SPG35: a narrow phenotypic spectrum across disease classifications","volume":"142","author":"Rattay","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0205","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s10048-018-0538-8","article-title":"Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review","volume":"19","author":"Mari","year":"2018","journal-title":"Neurogenetics"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0210","doi-asserted-by":"crossref","first-page":"9741","DOI":"10.1523\/JNEUROSCI.0458-08.2008","article-title":"Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration","volume":"28","author":"Zoller","year":"2008","journal-title":"J. Neurosci."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0215","series-title":"GeneReviews((R)), Seattle (WA)","article-title":"AP-4-associated hereditary spastic paraplegia","author":"Ebrahimi-Fakhari","year":"2018"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0220","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/j.ajhg.2011.04.019","article-title":"Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature","volume":"88","author":"Abou Jamra","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0225","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1136\/jmg.2010.082263","article-title":"Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability","volume":"48","author":"Moreno-De-Luca","year":"2011","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0230","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.ajhg.2009.06.004","article-title":"Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy","volume":"85","author":"Verkerk","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0235","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/ajmg.a.38561","article-title":"CureSpg, clinical and genetic characterization of AP4B1-associated SPG47","volume":"176","author":"Ebrahimi-Fakhari","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0240","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1093\/hmg\/ddz310","article-title":"Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking","volume":"29","author":"Behne","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0245","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000544","article-title":"Blended phenotype of silver-russell syndrome and SPG50 caused by maternal isodisomy of chromosome 7","volume":"7","author":"Ziegler","year":"2021","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0250","doi-asserted-by":"crossref","first-page":"3958","DOI":"10.1038\/s41467-018-06172-7","article-title":"AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A","volume":"9","author":"Davies","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0255","series-title":"AP-4 Mediates Vesicular Transport of the 2-AG Endocannabinoid Producing Enzyme DAGLB, bioRxiv","author":"Davies","year":"2020"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0260","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1007363","article-title":"Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome","volume":"14","author":"De Pace","year":"2018","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0265","first-page":"1","article-title":"Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome","author":"Ivankovic","year":"2019","journal-title":"Autophagy"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0270","doi-asserted-by":"crossref","first-page":"E10697","DOI":"10.1073\/pnas.1717327114","article-title":"AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation","volume":"114","author":"Mattera","year":"2017","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"5","key":"10.1016\/j.ymgme.2021.06.006_bb0275","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1002\/mds.27655","article-title":"Genetic mimics of cerebral palsy","volume":"34","author":"Pearson","year":"2019","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0280","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/j.pediatrneurol.2012.03.016","article-title":"Clinical features and neurologic progression of hyperargininemia","volume":"46","author":"Carvalho","year":"2012","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0285","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.spen.2017.03.016","article-title":"\u201cCerebral palsy\u201d in a patient with arginase deficiency","volume":"26","author":"Jichlinski","year":"2018","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0290","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1001\/archpedi.1969.02100030085009","article-title":"Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation","volume":"117","author":"Shih","year":"1969","journal-title":"Am. J. Dis. Child"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0295","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/s13023-015-0242-9","article-title":"The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","volume":"10","author":"Martinelli","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0300","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1212\/WNL.57.5.911","article-title":"Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","volume":"57","author":"Salvi","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0305","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/j.cca.2012.03.015","article-title":"Long-term follow-up of four patients affected by HHH syndrome","volume":"413","author":"Kim","year":"2012","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0310","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1136\/jmg.2008.059097","article-title":"Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15","volume":"45","author":"Debray","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0315","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1186\/1750-1172-7-32","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders","volume":"7","author":"Haberle","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0320","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ymgme.2010.01.003","article-title":"Clinical issues and frequent questions about biotinidase deficiency","volume":"100","author":"Wolf","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0325","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000525","article-title":"Biotinidase deficiency: a treatable cause of hereditary spastic paraparesis","volume":"6","author":"Radelfahr","year":"2020","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0330","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ymgme.2015.08.012","article-title":"Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss","volume":"116","author":"Wolf","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0335","doi-asserted-by":"crossref","first-page":"7779","DOI":"10.1016\/S0021-9258(20)89518-0","article-title":"Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis","volume":"266","author":"Cali","year":"1991","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0340","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1007\/s10545-017-0093-8","article-title":"Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)","volume":"40","author":"Salen","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0345","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1186\/s13023-014-0179-4","article-title":"Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management","volume":"9","author":"Nie","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0350","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1001\/archneur.59.4.527","article-title":"Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations","volume":"59","author":"Moghadasian","year":"2002","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0355","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/s10545-013-9674-3","article-title":"A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis","volume":"37","author":"Mignarri","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0360","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1007\/s00415-017-8440-0","article-title":"The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression","volume":"264","author":"Mignarri","year":"2017","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0365","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.biochi.2013.11.023","article-title":"Pathophysiology of X-linked adrenoleukodystrophy","volume":"98","author":"Berger","year":"2014","journal-title":"Biochimie"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0370","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/mdc3.12858","article-title":"X-linked adrenoleukodystrophy mimicking hereditary spastic paraplegia","volume":"7","author":"Ciarlariello","year":"2020","journal-title":"Mov. Disord. Clin. Pract."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0375","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1065","article-title":"Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy","volume":"8","author":"Luo","year":"2020","journal-title":"Mol. Genet. Genomic. Med."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0380","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.ejmg.2013.04.008","article-title":"Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia","volume":"56","author":"Zhan","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0385","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1056\/NEJMoa1700554","article-title":"Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy","volume":"377","author":"Eichler","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0390","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1016\/B978-0-444-59565-2.00051-4","article-title":"Monoamine neurotransmitter deficiencies","volume":"113","author":"Pearl","year":"2013","journal-title":"Handb. Clin. Neurol."},{"issue":"Suppl. 6","key":"10.1016\/j.ymgme.2021.06.006_bb0395","doi-asserted-by":"crossref","first-page":"S32","DOI":"10.1002\/ana.10630","article-title":"Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease)","volume":"54","author":"Segawa","year":"2003","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0400","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1001\/archneurol.2012.574","article-title":"Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs","volume":"69","author":"Tadic","year":"2012","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0405","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.parkreldis.2020.03.019","article-title":"Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset","volume":"74","author":"Wassenberg","year":"2020","journal-title":"Parkinsonism Relat. Disord."},{"issue":"1","key":"10.1016\/j.ymgme.2021.06.006_bb0410","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/cge.13955","article-title":"GCH1 mutations in hereditary spastic paraplegia","volume":"100","author":"Varghaei","year":"2021","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0415","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1007\/s00415-014-7265-3","article-title":"GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia","volume":"261","author":"Fan","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0420","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.pediatrneurol.2004.03.017","article-title":"Misdiagnoses in children with dopa-responsive dystonia","volume":"31","author":"Jan","year":"2004","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0425","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1212\/WNL.0b013e3181bacf59","article-title":"SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum","volume":"73","author":"Goizet","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0430","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1002\/acn3.51007","article-title":"Expansion of the genetic landscape of ERLIN2-related disorders","volume":"7","author":"Srivastava","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0435","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1086\/379522","article-title":"Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia","volume":"73","author":"Simpson","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0440","doi-asserted-by":"crossref","first-page":"3618","DOI":"10.1093\/brain\/awt270","article-title":"Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis","volume":"136","author":"Harlalka","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0445","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ajhg.2013.05.006","article-title":"Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia","volume":"93","author":"Boukhris","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0450","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.ajhg.2012.11.001","article-title":"Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia","volume":"91","author":"Tesson","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0455","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ajhg.2012.11.021","article-title":"Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia","volume":"92","author":"Martin","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0460","series-title":"Clinical, Neuroimaging and Molecular Spectrum of <em>TECPR2<\/em>\u2212Associated Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability, medRxiv","author":"Neuser","year":"2020"},{"key":"10.1016\/j.ymgme.2021.06.006_bb0465","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1007\/s00415-019-09466-y","article-title":"Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants","volume":"266","author":"Nicita","year":"2019","journal-title":"J. Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0470","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1136\/jmedgenet-2012-101212","article-title":"A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)","volume":"49","author":"Shimazaki","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0475","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S1474-4422(07)70177-1","article-title":"Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study","volume":"6","author":"Mahmood","year":"2007","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.ymgme.2021.06.006_bb0480","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/S0140-6736(00)02629-5","article-title":"Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy","volume":"356","author":"Shapiro","year":"2000","journal-title":"Lancet"},{"issue":"6","key":"10.1016\/j.ymgme.2021.06.006_bb0485","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1002\/humu.24206","article-title":"Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability","volume":"42","author":"Neuser","year":"2021","journal-title":"Hum Mutat."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719221007356?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719221007356?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:54:17Z","timestamp":1761090857000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719221007356"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":97,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["S1096719221007356"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2021.06.006","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Childhood-onset hereditary spastic paraplegia and its treatable mimics","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2021.06.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}