{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T06:47:10Z","timestamp":1777445230840,"version":"3.51.4"},"reference-count":35,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2001,7,1]],"date-time":"2001-07-01T00:00:00Z","timestamp":993945600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4401,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2001,7]]},"DOI":"10.1086\/321267","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T17:30:38Z","timestamp":1027704638000},"page":"209-215","source":"Crossref","is-referenced-by-count":70,"title":["The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype"],"prefix":"10.1016","volume":"69","author":[{"given":"H.","family":"Patel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.E.","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.T.","family":"Warner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.S.","family":"Houlston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Patton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Jeffery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.H.","family":"Crosby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/321267_bib3","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S0092-8674(00)81271-4","article-title":"The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria","volume":"85","author":"Arlt","year":"1996","journal-title":"Cell"},{"key":"10.1086\/321267_bib4","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/s003350010078","article-title":"Chromosomal localization of CCS, the copper chaperone for Cu\/Zn superoxide dismutase","volume":"11","author":"Bartnikas","year":"2000","journal-title":"Mamm Genome"},{"key":"10.1086\/321267_bib5","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/sj.ejhg.5200185","article-title":"Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance","volume":"6","author":"Byrne","year":"1998","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/321267_bib6","doi-asserted-by":"crossref","first-page":"23625","DOI":"10.1074\/jbc.273.37.23625","article-title":"The copper chaperone CCS directly interacts with copper\/zinc superoxide dismutase","volume":"273","author":"Casareno","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1086\/321267_bib7","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":"10.1086\/321267_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/1096-8628(20000904)94:1<1::AID-AJMG1>3.0.CO;2-V","article-title":"Novel syndromic form of X-linked complicated spastic paraplegia","volume":"94","author":"Claes","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1086\/321267_bib9","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1159\/000472212","article-title":"Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees","volume":"4","author":"De Jonghe","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"10.1086\/321267_bib10","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1126\/science.8351519","article-title":"Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase","volume":"261","author":"Deng","year":"1993","journal-title":"Science"},{"key":"10.1086\/321267_bib11","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1212\/WNL.44.7.1274","article-title":"The phenotype of \u201cpure\u201d autosomal dominant spastic paraplegia","volume":"44","author":"D\u00fcrr","year":"1994","journal-title":"Neurology"},{"key":"10.1086\/321267_bib12","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1212\/WNL.46.6.1507","article-title":"Hereditary spastic paraplegia: advances in genetic research","volume":"46","author":"Fink","year":"1996","journal-title":"Neurology"},{"key":"10.1086\/321267_bib13","first-page":"188","article-title":"Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q","volume":"56","author":"Fink","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321267_bib14","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1086\/302776","article-title":"A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34","volume":"66","author":"Fontaine","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321267_bib15","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1002\/ajmg.1320450610","article-title":"Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder","volume":"45","author":"Gigli","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1086\/321267_bib16","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jnnp.44.10.871","article-title":"Hereditary \u201cpure\u201d spastic paraplegia: a clinical and genetic study of 22 families","volume":"44","author":"Harding","year":"1981","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/321267_bib17","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1055\/s-2008-1041143","article-title":"Hereditary spastic paraplegias","volume":"13","author":"Harding","year":"1993","journal-title":"Semin Neurol"},{"key":"10.1086\/321267_bib18","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1093\/hmg\/3.9.1569","article-title":"Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p","volume":"3","author":"Hazan","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/321267_bib19","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/ng1093-163","article-title":"Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q","volume":"5","author":"Hazan","year":"1993","journal-title":"Nat Genet"},{"key":"10.1086\/321267_bib20","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1086\/302258","article-title":"Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q","volume":"64","author":"Hedera","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321267_bib21","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1093\/hmg\/3.8.1263","article-title":"Linkage of \u2018pure\u2019 autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity","volume":"3","author":"Hentati","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/321267_bib22","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng0794-402","article-title":"X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene","volume":"7","author":"Jouet","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/321267_bib23","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","article-title":"Strategies for multilocus linkage analysis in humans","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/321267_bib24","first-page":"482","article-title":"Multilocus linkage analysis in humans: detection of linkage and estimation of recombination","volume":"37","author":"Lathrop","year":"1985","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321267_bib25","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1212\/WNL.53.1.50","article-title":"Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-q15","volume":"53","author":"Martinez Murrilo","year":"1999","journal-title":"Neurology"},{"key":"10.1086\/321267_bib26","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1136\/jnnp.69.2.150","article-title":"Hereditary spastic paraparesis: a review of new developments","volume":"69","author":"McDermott","year":"2000","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/321267_bib27","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1093\/hmg\/6.11.1811","article-title":"CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24","volume":"6","author":"Nielsen","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/321267_bib28","doi-asserted-by":"crossref","unstructured":"Patel H, Hart PE, Warner T, Allen I, Phillimore HE, Silver JR, Wood NW, Jeffery S, Patton MA, Crosby AH. Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. Am J Med Genet (in press).","DOI":"10.1002\/1096-8628(20010722)102:1<68::AID-AJMG1411>3.0.CO;2-R"},{"key":"10.1086\/321267_bib29","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jnnp.56.2.175","article-title":"Hereditary \u201cpure\u201d spastic paraplegia: a study of nine families","volume":"56","author":"Polo","year":"1993","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/321267_bib30","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1086\/302783","article-title":"A locus for autosomal dominant \u201cpure\u201d hereditary spastic paraplegia maps to chromosome 19q13","volume":"66","author":"Reid","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321267_bib31","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1086\/302555","article-title":"A new locus for autosomal dominant \u201cpure\u201d hereditary spastic paraplegia mapping to chromosome 12q13 and evidence of further genetic heterogeneity","volume":"65","author":"Reid","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321267_bib32","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","article-title":"Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis","volume":"362","author":"Rosen","year":"1993","journal-title":"Nature"},{"key":"10.1086\/321267_bib33","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng0394-257","article-title":"X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic at the proteolipid protein locus","volume":"6","author":"Saugier-Veber","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/321267_bib34","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000154222","article-title":"Avoiding recomputation in linkage analysis","volume":"44","author":"Sch\u00e4ffer","year":"1994","journal-title":"Hum Hered"},{"key":"10.1086\/321267_bib35","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1086\/302241","article-title":"Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy","volume":"64","author":"Seri","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/321267_bib36","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1136\/jnnp.29.2.135","article-title":"Familial spastic paraplegia with amyotrophy of the hands","volume":"29","author":"Silver","year":"1966","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/321267_bib37","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1086\/303017","article-title":"A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28","volume":"67","author":"Vazza","year":"2000","journal-title":"Am J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707614608?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707614608?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:52:16Z","timestamp":1555005136000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707614608"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,7]]},"references-count":35,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2001,7]]}},"alternative-id":["S0002929707614608"],"URL":"https:\/\/doi.org\/10.1086\/321267","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2001,7]]}}}