{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T15:40:24Z","timestamp":1791214824375,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2002,5,21]],"date-time":"2002-05-21T00:00:00Z","timestamp":1021939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2002,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. Seven loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have already been mapped on chromosomes 14q, 2p, 15q, 8p, 12q, 19q, and 2q. We report on an Italian family affected by ADPHSP for which we excluded linkage with the known loci and performed a genome\u2010wide search. Linkage analysis and haplotype construction permitted the identification of a novel ADPHSP locus on the long arm of chromosome 9, designated SPG19. The phenotype was characterized by late onset (range, 36\u201355 years) and mild disability, with only 1 patient bound to a wheelchair after 31 years of disease. Urinary disturbances (urgency and\/or incontinence) were always present, even in young patients with a short disease history.<\/jats:p>","DOI":"10.1002\/ana.10204","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:29:46Z","timestamp":1030318186000},"page":"681-685","source":"Crossref","is-referenced-by-count":39,"title":["Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33\u2013q34"],"prefix":"10.1002","volume":"51","author":[{"given":"Enza Maria","family":"Valente","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana","family":"Caputo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarice","family":"Patrono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danilo","family":"Costanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,21]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.10.871"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-199708000-00006"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.7.1274"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-163"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.10.1867"},{"key":"e_1_2_6_7_2","first-page":"188","article-title":"Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q","volume":"56","author":"Fink JK","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/302258"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1086\/302555"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/302783"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/302776"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/15472"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.637"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng758"},{"key":"e_1_2_6_15_2","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham RW","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_16_2","first-page":"1323","article-title":"Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker\u2010sharing statistics","volume":"58","author":"Sobel E","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.2.325"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.8.1844"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/301769"},{"key":"e_1_2_6_20_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/PL00022976","article-title":"A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500kb interval on chromosome 9q34","volume":"3","author":"Blair IP","year":"2000","journal-title":"Neurogenetics"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T23:01:49Z","timestamp":1695855709000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,21]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002,6]]}},"alternative-id":["10.1002\/ana.10204"],"URL":"https:\/\/doi.org\/10.1002\/ana.10204","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,21]]}}}