{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T01:09:06Z","timestamp":1772759346794,"version":"3.50.1"},"reference-count":38,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[1999,2,1]],"date-time":"1999-02-01T00:00:00Z","timestamp":917827200000},"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":5282,"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":[[1999,2]]},"DOI":"10.1086\/302258","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"563-569","source":"Crossref","is-referenced-by-count":80,"title":["Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8q"],"prefix":"10.1016","volume":"64","author":[{"given":"Peter","family":"Hedera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shirley","family":"Rainier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Alvarado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinping","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffery","family":"Williamson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brith","family":"Otterud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Leppert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John K.","family":"Fink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/302258_bib1","series-title":"The genetics of neurological disorders","first-page":"275","article-title":"Spastic paraplegia\/HSP","author":"Baraitser","year":"1990"},{"key":"10.1086\/302258_bib2","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jnnp.37.1.8","article-title":"Strumpell's familial spastic paraplegia: genetics and neuropathology","volume":"37","author":"Behan","year":"1974","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/302258_bib3","doi-asserted-by":"crossref","first-page":"5759","DOI":"10.1073\/pnas.78.9.5759","article-title":"Polymorphic DNA region adjacent to the 5\u2032 end of the human insulin gene","volume":"78","author":"Bell","year":"1981","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302258_bib4","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1212\/WNL.37.6.910","article-title":"The autosomal dominant form of \u201cpure\u201d familial spastic paraplegia","volume":"37","author":"Boustany","year":"1987","journal-title":"Neurology"},{"key":"10.1086\/302258_bib5","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1001\/archneur.1995.00540310035013","article-title":"X-linked pure familial spastic paraparesis: characterization of a large kindred with magnetic resonance imaging studies","volume":"52","author":"Cambi","year":"1995","journal-title":"Arch Neurol"},{"key":"10.1086\/302258_bib6","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1212\/WNL.23.11.1160","article-title":"Sphincter involvement in hereditary spastic paraplegia","volume":"23","author":"Cartlidge","year":"1973","journal-title":"Neurology"},{"key":"10.1086\/302258_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\/302258_bib8","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":"10.1086\/302258_bib9","first-page":"A169","article-title":"A new pure hereditary spastic paraplegia kindred maps to the proteolipid protein gene locus","volume":"61","author":"Dube","year":"1997","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302258_bib10","first-page":"A185","article-title":"Autosomal dominant familial spastic paraplegia: linkage analysis and evidence for linkage to chromosome 2p","volume":"55","author":"Figlewicz","year":"1994","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302258_bib14","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1097\/00019052-199708000-00006","article-title":"Advances in hereditary spastic paraplegia","volume":"10","author":"Fink","year":"1997","journal-title":"Curr Opin Neurol"},{"key":"10.1086\/302258_bib11","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\/302258_bib12","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1212\/WNL.45.2.325","article-title":"Autosomal dominant hereditary spastic paraparesis, type I: clinical and genetic analysis of a large North American family","volume":"45","author":"Fink","year":"1995","journal-title":"Neurology"},{"key":"10.1086\/302258_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\/302258_bib15","first-page":"183","article-title":"Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity","volume":"56","author":"Gispert","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302258_bib16","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\/302258_bib17","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\/302258_bib18","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\/302258_bib19","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1093\/hmg\/3.10.1867","article-title":"Linkage of the late onset autosomal dominant familial spastic paraplegia to chromosome 2p markers","volume":"3","author":"Hentati","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302258_bib20","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1136\/jnnp.40.10.1003","article-title":"Strumpell's pure familial spastic paraplegia: case study and review of the literature","volume":"40","author":"Holmes","year":"1977","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/302258_bib21","first-page":"933","article-title":"Etiological heterogeneity in X-linked spastic paraplegia","volume":"41","author":"Keppen","year":"1987","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302258_bib22","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/ng0794-351","article-title":"The rumpshaker mutation in spastic paraplegia","volume":"7","author":"Kobayashi","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302258_bib23","first-page":"482","article-title":"Multipoint 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\/302258_bib24","first-page":"A217","article-title":"Linkage and heterogeneity in hereditary spastic paraparesis","volume":"57","author":"Lennon","year":"1995","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302258_bib25","series-title":"Mendelian inheritance in man","first-page":"1189","article-title":"Spastic paraplegia, hereditary","author":"McKusick","year":"1988"},{"key":"10.1086\/302258_bib26","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000022798","article-title":"Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21","volume":"48","author":"Nance","year":"1998","journal-title":"Hum Hered"},{"key":"10.1086\/302258_bib27","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1136\/jnnp.64.1.61","article-title":"Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study","volume":"64","author":"Nielsen","year":"1998","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/302258_bib28","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\/302258_bib29","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1126\/science.1439770","article-title":"A comprehensive genetic linkage map of the human genome","volume":"258","author":"NIH\/CEPH Collaborative Mapping Group","year":"1992","journal-title":"Science"},{"key":"10.1086\/302258_bib30","first-page":"22","article-title":"Hereditary (familial) spastic paraplegia: report of six cases in one family","volume":"48","author":"Philipp","year":"1949","journal-title":"NZ Med J"},{"key":"10.1086\/302258_bib31","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\/302258_bib32","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/00005053-191608000-00004","article-title":"Family spastic paralysis","volume":"44","author":"Rhein","year":"1914","journal-title":"J Nerv Ment Dis"},{"key":"10.1086\/302258_bib33","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1136\/jnnp.26.6.516","article-title":"Hereditary spastic paraplegia","volume":"26","author":"Roe","year":"1963","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1086\/302258_bib34","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1600-0404.1990.tb04484.x","article-title":"A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease)","volume":"82","author":"Scheltens","year":"1990","journal-title":"Acta Neurol Scand"},{"key":"10.1086\/302258_bib35","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1001\/archneurpsyc.1956.02330200038005","article-title":"Hereditary (familial) spastic paraplegia: further clinical and pathologic observations","volume":"75","author":"Schwarz","year":"1956","journal-title":"AMA Arch Neurol Psychiatry"},{"key":"10.1086\/302258_bib36","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/j.1399-0004.1974.tb00647.x","article-title":"Hereditary spastic paraplegia in western Norway","volume":"6","author":"Skre","year":"1974","journal-title":"Clin Genet"},{"key":"10.1086\/302258_bib37","series-title":"Handbook of clinical neurology. Vol 22: System disorders and atrophies. part II","first-page":"420","article-title":"Familial spastic paraplegia","author":"Sutherland","year":"1975"},{"key":"10.1086\/302258_bib38","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.13.3.217","article-title":"X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg","volume":"13","author":"Zatz","year":"1976","journal-title":"J Med Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707617625?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707617625?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:24:05Z","timestamp":1555003445000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707617625"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,2]]},"references-count":38,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1999,2]]}},"alternative-id":["S0002929707617625"],"URL":"https:\/\/doi.org\/10.1086\/302258","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1999,2]]}}}