{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:25:46Z","timestamp":1791293146410,"version":"4.1.0"},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1093\/brain\/aws240","type":"journal-article","created":{"date-parts":[[2012,10,13]],"date-time":"2012-10-13T05:03:04Z","timestamp":1350104584000},"page":"2980-2993","source":"Crossref","is-referenced-by-count":161,"title":["Spastic paraplegia gene 7 in patients with spasticity and\/or optic neuropathy"],"prefix":"10.1093","volume":"135","author":[{"given":"Stephan","family":"Klebe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Depienne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Gerber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georges","family":"Challe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Charles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle","family":"Fedirko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Lejeune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Cottineau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F.","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Ferrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guilhem","family":"Sole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Dest\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Mayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Fontaine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me de","family":"Seze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Clanet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Ollagnon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Busson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Cazeneuve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josseline","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Michel","family":"Rozet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2012,10,11]]},"reference":[{"key":"key\n\t\t\t\t20170522085849_aws240-B1","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/humu.20682","article-title":"A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia","volume":"29","author":"Arnoldi","year":"2008","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170522085849_aws240-B2","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1083\/jcb.200304112","article-title":"Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia","volume":"163","author":"Atorino","year":"2003","journal-title":"J Cell Biol"},{"key":"key\n\t\t\t\t20170522085849_aws240-B3","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.molcel.2009.07.018","article-title":"An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases","volume":"35","author":"Augustin","year":"2009","journal-title":"Mol Cell"},{"key":"key\n\t\t\t\t20170522085849_aws240-B4","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1006\/geno.1999.5818","article-title":"Identification and characterization of AFG3L2, a novel paraplegin-related gene","volume":"59","author":"Banfi","year":"1999","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170522085849_aws240-B5","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/nrn2990","article-title":"Hereditary spastic paraplegias: membrane traffic and the motor pathway","volume":"12","author":"Blackstone","year":"2011","journal-title":"Nat Rev Neurosci"},{"key":"key\n\t\t\t\t20170522085849_aws240-B6","first-page":"617","article-title":"Functional evaluation of paraplegin mutations by a yeast complementation assay","volume":"31","author":"Bonn","year":"2010","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170522085849_aws240-B7","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1212\/01.wnl.0000319700.11606.21","article-title":"Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes","volume":"71","author":"Brugman","year":"2008","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522085849_aws240-B8","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1002\/humu.21342","article-title":"Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias","volume":"31","author":"Cagnoli","year":"2010","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170522085849_aws240-B9","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S0092-8674(00)81203-9","article-title":"Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease","volume":"93","author":"Casari","year":"1998","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522085849_aws240-B10","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1086\/301930","article-title":"A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3","volume":"63","author":"De Michele","year":"1998","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170522085849_aws240-B11","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1097\/WCO.0b013e3282f190ba","article-title":"Hereditary spastic paraplegias: an update","volume":"20","author":"Depienne","year":"2007","journal-title":"Curr Opin Neurol"},{"key":"key\n\t\t\t\t20170522085849_aws240-B12","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/ng.544","article-title":"Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28","volume":"42","author":"Di Bella","year":"2010","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170522085849_aws240-B13","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1038\/ejhg.2010.40","article-title":"Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation","volume":"18","author":"Edener","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20170522085849_aws240-B14","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1212\/01.wnl.0000201185.91110.15","article-title":"Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia","volume":"66","author":"Elleuch","year":"2006","journal-title":"Neurology"},{"issue":"Pt 1","key":"key\n\t\t\t\t20170522085849_aws240-B15","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1093\/brain\/awn269","article-title":"Visual system involvement in patients with Friedreich's ataxia","volume":"132","author":"Fortuna","year":"2009","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522085849_aws240-B16","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1002\/humu.21542","article-title":"REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction","volume":"32","author":"Goizet","year":"2011","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170522085849_aws240-B17","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.ajhg.2009.03.003","article-title":"TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy","volume":"84","author":"Hanein","year":"2009","journal-title":"Ame J Hum Genet"},{"issue":"Pt 6","key":"key\n\t\t\t\t20170522085849_aws240-B18","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1093\/brain\/awl012","article-title":"Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3","volume":"129","author":"Klebe","year":"2006","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522085849_aws240-B19","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1128\/MCB.01470-06","article-title":"Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia","volume":"27","author":"Koppen","year":"2007","journal-title":"Mol Cell Biol"},{"key":"key\n\t\t\t\t20170522085849_aws240-B20","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/S0968-0004(99)01541-8","article-title":"AAA proteases: cellular machines for degrading membrane proteins","volume":"25","author":"Langer","year":"2000","journal-title":"Trends Biochem Sci"},{"key":"key\n\t\t\t\t20170522085849_aws240-B21","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1016\/S1097-2765(00)80242-7","article-title":"Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface","volume":"5","author":"Leonhard","year":"2000","journal-title":"Mol Cell"},{"issue":"Pt 4","key":"key\n\t\t\t\t20170522085849_aws240-B22","doi-asserted-by":"crossref","first-page":"e169","DOI":"10.1093\/brain\/awq306","article-title":"Heterozygous OPA1 mutations in Behr syndrome","volume":"134","author":"Marelli","year":"2011","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522085849_aws240-B23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.bbabio.2009.07.013","article-title":"Emerging roles of mitochondrial proteases in neurodegeneration","volume":"1797","author":"Martinelli","year":"2010","journal-title":"Biochim Biophys Acta"},{"key":"key\n\t\t\t\t20170522085849_aws240-B24","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1212\/WNL.56.4.467","article-title":"Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England","volume":"56","author":"McDermott","year":"2001","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522085849_aws240-B25","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.cell.2005.08.003","article-title":"The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria","volume":"123","author":"Nolden","year":"2005","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522085849_aws240-B26","doi-asserted-by":"crossref","first-page":"e1002325","DOI":"10.1371\/journal.pgen.1002325","article-title":"Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases","volume":"7","author":"Pierson","year":"2011","journal-title":"PLoS Genet"},{"issue":"Pt 1","key":"key\n\t\t\t\t20170522085849_aws240-B27","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awr323","article-title":"The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype","volume":"135","author":"Rouzier","year":"2012","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522085849_aws240-B28","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.molmed.2006.04.002","article-title":"Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia","volume":"12","author":"Rugarli","year":"2006","journal-title":"Trends Mol Med"},{"key":"key\n\t\t\t\t20170522085849_aws240-B29","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1016\/S1474-4422(08)70258-8","article-title":"Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms","volume":"7","author":"Salinas","year":"2008","journal-title":"Lancet Neurol"},{"key":"key\n\t\t\t\t20170522085849_aws240-B30","article-title":"SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V","author":"Sanchez-Ferrero","year":"2012","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20170522085849_aws240-B31","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.resmic.2009.09.005","article-title":"AAA proteases in mitochondria: diverse functions of membrane-bound proteolytic machines","volume":"160","author":"Tatsuta","year":"2009","journal-title":"Res Microbiol"},{"key":"key\n\t\t\t\t20170522085849_aws240-B32","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1007\/s00415-008-0858-y","article-title":"Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene","volume":"255","author":"Tzoulis","year":"2008","journal-title":"J Neurol"},{"key":"key\n\t\t\t\t20170522085849_aws240-B33","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/mds.22949","article-title":"A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects","volume":"25","author":"Warnecke","year":"2010","journal-title":"Mov Disord"},{"key":"key\n\t\t\t\t20170522085849_aws240-B34","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1212\/01.wnl.0000266667.91074.fe","article-title":"A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation","volume":"69","author":"Warnecke","year":"2007","journal-title":"Neurology"},{"issue":"Pt 5","key":"key\n\t\t\t\t20170522085849_aws240-B35","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":"key\n\t\t\t\t20170522085849_aws240-B36","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/eye.2011.2","article-title":"Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations","volume":"25","author":"Yu-Wai-Man","year":"2011","journal-title":"Eye (Lond)"},{"key":"key\n\t\t\t\t20170522085849_aws240-B37","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.preteyeres.2010.11.002","article-title":"Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies","volume":"30","author":"Yu-Wai-Man","year":"2011","journal-title":"Prog Retin Eye Res"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/135\/10\/2980\/17346881\/aws240.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,4]],"date-time":"2019-07-04T13:12:51Z","timestamp":1562245971000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/aws240"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":37,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2012,10,11]]},"published-print":{"date-parts":[[2012,10]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/aws240","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10]]}}}