{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T15:58:05Z","timestamp":1791302285036,"version":"4.1.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,7]]},"DOI":"10.1093\/brain\/awu121","type":"journal-article","created":{"date-parts":[[2014,5,15]],"date-time":"2014-05-15T23:34:24Z","timestamp":1400196864000},"page":"1907-1920","source":"Crossref","is-referenced-by-count":157,"title":["Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48"],"prefix":"10.1093","volume":"137","author":[{"given":"Viviana","family":"Pensato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Castellotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Gellera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Ciano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Nanetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Salsano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Piscosquito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Sarto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marica","family":"Eoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Soliveri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Lamperti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Chiapparini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Di Bella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Mariotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,5,15]]},"reference":[{"key":"key\n\t\t\t\t20170425182308_awu121-B1","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":"key\n\t\t\t\t20170425182308_awu121-B2","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1007\/s00415-009-0083-3","article-title":"SPG11 spastic paraplegia. A new cause of juvenile parkinsonism","volume":"256","author":"Anheim","year":"2009","journal-title":"J Neurol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B3","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1001\/archneur.65.3.393","article-title":"Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity","volume":"65","author":"Boukhris","year":"2008","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B4","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1111\/j.1399-0004.2009.01176.x","article-title":"Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity","volume":"75","author":"Boukhris","year":"2009","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t20170425182308_awu121-B5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2013.02.026","article-title":"A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review","volume":"329","author":"Cao","year":"2013","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20170425182308_awu121-B6","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\t20170425182308_awu121-B7","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1136\/jmg.2008.063321","article-title":"Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum","volume":"46","author":"Crimella","year":"2009","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t20170425182308_awu121-B8","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s10048-007-0095-z","article-title":"SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation","volume":"8","author":"Del Bo","year":"2007","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170425182308_awu121-B9","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","article-title":"Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425182308_awu121-B10","doi-asserted-by":"crossref","first-page":"E500","DOI":"10.1002\/humu.20945","article-title":"Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion","volume":"30","author":"Denora","year":"2009","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t20170425182308_awu121-B11","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.jns.2008.09.039","article-title":"Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26\/SPG15 in the Italian population","volume":"277","author":"Denora","year":"2009","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20170425182308_awu121-B12","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1212\/01.wnl.0000319610.29522.8a","article-title":"A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23","volume":"71","author":"Dick","year":"2008","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170425182308_awu121-B13","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":"key\n\t\t\t\t20170425182308_awu121-B14","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ajhg.2008.10.010","article-title":"Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia","volume":"83","author":"Edvardson","year":"2008","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425182308_awu121-B15","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s10048-007-0097-x","article-title":"Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families","volume":"8","author":"Elleuch","year":"2007","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170425182308_awu121-B16","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1007\/s00401-013-1115-8","article-title":"Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms","volume":"126","author":"Fink","year":"2013","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2012.03.025","article-title":"Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance","volume":"318","author":"Finsterer","year":"2012","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20170425182308_awu121-B18","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":"key\n\t\t\t\t20170425182308_awu121-B19","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":"key\n\t\t\t\t20170425182308_awu121-B20","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20170425182308_awu121-B21","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1038\/15472","article-title":"Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia","volume":"23","author":"Hazan","year":"1999","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20170425182308_awu121-B22","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":"key\n\t\t\t\t20170425182308_awu121-B23","doi-asserted-by":"crossref","first-page":"2558","DOI":"10.1091\/mbc.E13-03-0170","article-title":"Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15","volume":"24","author":"Hirst","year":"2013","journal-title":"Mol Biol Cell"},{"key":"key\n\t\t\t\t20170425182308_awu121-B24","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/ana.22122","article-title":"Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)","volume":"68","author":"Kruer","year":"2010","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B25","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.jns.2008.07.038","article-title":"Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum","volume":"275","author":"Liao","year":"2008","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20170425182308_awu121-B26","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1007\/s00415-013-7216-4","article-title":"SPG15: a cause of juvenile atypical levodopa responsive parkinsonism","volume":"261","author":"Mallaret","year":"2014","journal-title":"J Neurol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B27","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/0022-510X(95)00028-Z","article-title":"Familial spastic paraplegia with mental impairment and thin corpus callosum","volume":"131","author":"Nakamura","year":"1995","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20170425182308_awu121-B28","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1126\/science.1247363","article-title":"Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders","volume":"343","author":"Novarino","year":"2014","journal-title":"Science"},{"issue":"Pt 2","key":"key\n\t\t\t\t20170425182308_awu121-B29","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1093\/brain\/awp325","article-title":"SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis","volume":"133","author":"Orlacchio","year":"2010","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425182308_awu121-B30","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1002\/mds.23221","article-title":"Early-onset L-dopa responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations","volume":"25","author":"Pais\u00e1n-Ruiz","year":"2010","journal-title":"Mov Disord"},{"key":"key\n\t\t\t\t20170425182308_awu121-B31","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1038\/ejhg.2011.222","article-title":"Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration","volume":"20","author":"Pierson","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20170425182308_awu121-B32","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/j.1468-1331.2008.02367.x","article-title":"Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity","volume":"16","author":"Pippucci","year":"2009","journal-title":"Eur J Neurol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B33","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/mds.23472","article-title":"Atypical juvenile parkinsonism in a consanguineous SPG15 family","volume":"26","author":"Schicks","year":"2011","journal-title":"Mov Disord"},{"key":"key\n\t\t\t\t20170425182308_awu121-B34","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1055\/s-0031-1299787","article-title":"Genetics of hereditary spastic paraplegias","volume":"31","author":"Sch\u00fcle","year":"2011","journal-title":"Semin Neurol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B35","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1136\/jnnp.2008.167528","article-title":"Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia","volume":"80","author":"Sch\u00fcle","year":"2009","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"key\n\t\t\t\t20170425182308_awu121-B36","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/j.ajhg.2012.10.017","article-title":"Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia","volume":"91","author":"Schuurs-Hoeijmakers","year":"2012","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20170425182308_awu121-B37","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":"key\n\t\t\t\t20170425182308_awu121-B38","doi-asserted-by":"crossref","first-page":"e1000408","DOI":"10.1371\/journal.pbio.1000408","article-title":"A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia","volume":"8","author":"S\u0142abicki","year":"2010","journal-title":"PLoS Biol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B39","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"},{"issue":"Pt 3","key":"key\n\t\t\t\t20170425182308_awu121-B40","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1093\/brain\/awm293","article-title":"Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration","volume":"131","author":"Stevanin","year":"2008","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170425182308_awu121-B41","doi-asserted-by":"crossref","first-page":"e127","DOI":"10.1111\/j.1468-1331.2012.03838.x","article-title":"Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation","volume":"19","author":"Tonelli","year":"2012","journal-title":"Eur J Neurol"},{"key":"key\n\t\t\t\t20170425182308_awu121-B42","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1002\/mds.21942","article-title":"Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum","volume":"23","author":"Zhang","year":"2008","journal-title":"Mov Disord"}],"container-title":["Brain"],"original-title":[],"language":"en","deposited":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T09:18:32Z","timestamp":1498123112000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article-lookup\/doi\/10.1093\/brain\/awu121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,15]]},"references-count":42,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2014,5,15]]},"published-print":{"date-parts":[[2014,7]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awu121","relation":{},"ISSN":["1460-2156","0006-8950"],"issn-type":[{"value":"1460-2156","type":"electronic"},{"value":"0006-8950","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5,15]]}}}