{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:36:53Z","timestamp":1791329813607,"version":"4.3.1"},"reference-count":36,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["neurology.org"],"crossmark-restriction":true},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1996,4]]},"DOI":"10.1212\/wnl.46.4.1112","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:19:17Z","timestamp":1336915157000},"page":"1112-1117","update-policy":"https:\/\/doi.org\/10.1212\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":55,"title":["Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia"],"prefix":"10.1212","volume":"46","author":[{"given":"F.","family":"Cambi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.-M.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Cordray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. R.","family":"Fain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. D.","family":"Keppen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. F.","family":"Barker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_1_2_2","first-page":"1","volume":"1","year":"1983","unstructured":"Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.","journal-title":"Lancet"},{"key":"e_1_3_1_3_2","unstructured":"Harding AE. The hereditary ataxias and related disorders. Clinical neurology and neurosurgery monographs vol 6 chaps 12-14. New York: Churchill Livingstone 1984:174-211."},{"key":"e_1_3_1_4_2","first-page":"2","volume":"36","year":"1989","unstructured":"Gutman DH, Fishbeck KH, Kamholz J. Complicated hereditary spastic paraparesis with cerebral white matter lesions. Am J Med Genet 1989;36:251-257.","journal-title":"Am J Med Genet"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02898.x"},{"key":"e_1_3_1_6_2","first-page":"8","volume":"14","year":"1962","unstructured":"Johnston AW, McKusick VA. A sex-linked recessive form of spastic paraplegia. Am J Hum Genet 1962;14:83-96.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_7_2","unstructured":"Thurmon TF Walker BA Scott CI Abbott MH. Birth defects. Original article series VII. Baltimore: Williams & Wilkins 1971:219-221."},{"key":"e_1_3_1_8_2","first-page":"2","volume":"13","year":"1976","unstructured":"Zastz M, Penha-Serrano C, Otto PA. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 1976;13:217-222.","journal-title":"J Med Genet"},{"key":"e_1_3_1_9_2","first-page":"9","volume":"41","year":"1987","unstructured":"Keppen LD, Leppert MF, O'Connell P, et al. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987;41:933-943.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_10_2","first-page":"6","volume":"52","year":"1995","unstructured":"Cambi F, Tartaglino L, Lublin FD, McCarren D. X-linked pure familial spastic paraparesis: characterization of a large kindred with magnetic resonance imaging studies. Arch Neurol 1995;52:665-669.","journal-title":"Arch Neurol"},{"key":"e_1_3_1_11_2","first-page":"4","volume":"7","year":"1994","unstructured":"Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet 1994;7:402-407.","journal-title":"Nature Genet"},{"key":"e_1_3_1_12_2","first-page":"4","volume":"7","year":"1994","unstructured":"Vits L, Van Camp G, Coucke P, et al. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature Genet 1994;7:408-413.","journal-title":"Nature Genet"},{"key":"e_1_3_1_13_2","first-page":"2","volume":"6","year":"1994","unstructured":"Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet 1994;6:257-262.","journal-title":"Nature Genet"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-3"},{"key":"e_1_3_1_15_2","first-page":"6","volume":"19","year":"1990","unstructured":"Trofatter JA, Pratt VM, Dlouhy SR, Hodes ME. Ahall polymorphism in human X-linked proteolipid protein gene (PLP). Nucleic Acids Res 1990;19:6057.","journal-title":"Nucleic Acids Res"},{"key":"e_1_3_1_16_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1420"},{"key":"e_1_3_1_17_2","first-page":"1","volume":"51","year":"1992","unstructured":"Doll R, Natowicz MR, Schiffmann R, Smith FI. Molecular diagnostics for myelin proteolipid gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;51:161-169.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_18_2","first-page":"4","volume":"45","year":"1989","unstructured":"Gencic S, Abuelo D, Ambler M, Hudson LD. Pelizaeus-Merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 1989;45:435-442.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_19_2","first-page":"2","volume":"67","year":"1994","unstructured":"Willard HF, Cremers F, Mandell JL, Monaco AP, Nelson DL, Schlessinger D. Report and abstracts of the Fifth International Workshop on Human X chromosome mapping. Cytogenet Cell Genet 1994;67:295-358.","journal-title":"Cytogenet Cell Genet"},{"key":"e_1_3_1_20_2","first-page":"2","volume":"9","year":"1995","unstructured":"Fain PR, Kort EN, Chance PF, Nguyen K, Econs MJ, Barker DF. A 2D crossover-based map of the human X chromosome as a model for map integration. Nature Genet 1995;9:261-265.","journal-title":"Nature Genet"},{"key":"e_1_3_1_21_2","first-page":"5","volume":"84","year":"1987","unstructured":"Nave KA, Lai C, Bloom FE, Milner RJ. Splice site selection in the gene for proteolipid protein (PLP) gene transcript and primary structure of the DM20 protein of CNS myelin. Proc Natl Acad Sci. USA 1987;84:5665-5669.","journal-title":"USA"},{"key":"e_1_3_1_22_2","first-page":"3","volume":"18","year":"1987","unstructured":"Macklin WB, Campagnoni CW, Deininger PL, Gardinier MV. Structure and expression of the mouse myelin proteolipid protein gene. J Neurosci Res 1987;18:383-394.","journal-title":"J Neurosci Res"},{"key":"e_1_3_1_23_2","first-page":"2","volume":"120","year":"1991","unstructured":"Popot J-L, Pham Dinh D, Dautigny A. Major myelin proteolipid: the 4-alfa-helix topology. J Membr Biol 1991;120:233-246.","journal-title":"J Membr Biol"},{"key":"e_1_3_1_24_2","first-page":"7","volume":"358","year":"1992","unstructured":"Schneider A, Montague P, Griffiths I, et al. A mutation of the proteolipid protein gene uncoupling hypomyelination from glial cell death. Nature 1992;358:758-761.","journal-title":"Nature"},{"key":"e_1_3_1_25_2","first-page":"A","volume":"51","year":"1992","unstructured":"Bridge PJ, Wilkins PJ. The role of proteolipid protein gene mutations in Pelizaeus-Merzbacher disease [abstract]. Am J Hum Genet 1992;51:A209.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_26_2","first-page":"7","volume":"88","year":"1991","unstructured":"Pham-Dinh D, Popot J-I, Boespflug-Tanguy O, et al. Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc Natl Acad Sci USA 1991;88:7562-7566.","journal-title":"Proc Natl Acad Sci USA"},{"key":"e_1_3_1_27_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.1.1"},{"key":"e_1_3_1_28_2","first-page":"7","volume":"374","year":"1993","unstructured":"Otterbach B, Stoffel W, Ramaekers V. A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease. Biol Chem Hoppe Seyler 1993;374:75-83.","journal-title":"Biol Chem Hoppe Seyler"},{"key":"e_1_3_1_29_2","first-page":"8","volume":"51","year":"1992","unstructured":"Strautnieks S, Rutland P, Winter RM, Baraitser M, Malcolm S. Pelizaeus-Merzbacher disease: detection of mutations Thr181-Pro and leu223-Pro in the proteolipid protein gene, and prenatal diagnosis. Am J Hum Genet 1992;51:871-878.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_1_30_2","first-page":"4","volume":"11","year":"1993","unstructured":"Yan Y, Lagenauer C, Narayanan V. Molecular cloning of M6: identification of a PLP\/DM20 gene family. Neuron 1993;11:423-431.","journal-title":"Neuron"},{"key":"e_1_3_1_31_2","first-page":"2","volume":"3","year":"1994","unstructured":"Fransen E, Scrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PG. X-linked Hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Hum Mol Genet 1994;3:2255-2256.","journal-title":"Hum Mol Genet"},{"key":"e_1_3_1_32_2","first-page":"2","volume":"58","year":"1992","unstructured":"Ikenaka K, Kagawa T, Mikoshiba K. Selective expression of DM-20, an alternatively spliced myelin proteolipid protein gene product, in developing nervous system and nonglial cells. J Neurochem 1992;58:2248-2253.","journal-title":"J Neurochem"},{"key":"e_1_3_1_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.490330102"},{"key":"e_1_3_1_34_2","first-page":"2","volume":"77","year":"1987","unstructured":"Cremers FP, Pfeiffer RA, van de Pol TJ, et al. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-22 region. Hum Genet 1987;77:23-27.","journal-title":"Hum Genet"},{"key":"e_1_3_1_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-3"},{"key":"e_1_3_1_36_2","first-page":"3","volume":"14","year":"1993","unstructured":"Hodes ME, Pratt VM, Dlouhy SR. Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 1993;14:383-394.","journal-title":"Dev Neurosci"},{"key":"e_1_3_1_37_2","first-page":"4","volume":"55","year":"1994","unstructured":"Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group. Am J Hum Genet 1994;55:461-467.","journal-title":"Am J Hum Genet"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.46.4.1112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T13:39:17Z","timestamp":1711546757000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.46.4.1112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,4]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1996,4]]}},"alternative-id":["10.1212\/WNL.46.4.1112"],"URL":"https:\/\/doi.org\/10.1212\/wnl.46.4.1112","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,4]]}}}