{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:44:13Z","timestamp":1762098253403,"version":"3.37.3"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,12,22]],"date-time":"2005-12-22T00:00:00Z","timestamp":1135209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Nervous and Mental Disorders from Ministry of Health, Labor and Welfare","award":["16B-1"],"award-info":[{"award-number":["16B-1"]}]},{"name":"NIH","award":["R01 NS27042"],"award-info":[{"award-number":["R01 NS27042"]}]},{"name":"National Institute for Child Health and Development","award":["P01 HD38420"],"award-info":[{"award-number":["P01 HD38420"]}]},{"name":"New York State Office of Mental Retardation and Developmental Disabilities"},{"DOI":"10.13039\/100012465","name":"Nemours Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012465","id-type":"DOI","asserted-by":"crossref"}]},{"name":"PMD Foundation"},{"name":"Kylan Hunter Foundation"},{"DOI":"10.13039\/100000097","name":"NIH National Center for Research Resources","doi-asserted-by":"crossref","award":["1P20RR020173"],"award-info":[{"award-number":["1P20RR020173"]}],"id":[{"id":"10.13039\/100000097","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To report an association between spastic paraplegia type 2 with axonal peripheral neuropathy and apparent proteolipid protein gene (<jats:italic>PLP1<\/jats:italic>) silencing in a family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Pulsed\u2010field gel electrophoresis, custom array comparative genomic hybridization, and semi\u2010quantitative multiplex polymerase chain reaction analyses were used to examine the <jats:italic>PLP1<\/jats:italic> genomic region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Electrodiagnostic studies and a sural nerve biopsy showed features of a dystrophic axonal neuropathy. Molecular studies identified a small duplication downstream of <jats:italic>PLP1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>We propose the duplication to result in <jats:italic>PLP1<\/jats:italic> gene silencing by virtue of a position effect. Our observations suggest that genomic rearrangements that do not include <jats:italic>PLP1<\/jats:italic> coding sequences should be considered as yet another potential mutational mechanism underlying <jats:italic>PLP1<\/jats:italic>\u2010related dysmyelinating disorders. Ann Neurol 2005<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.20732","type":"journal-article","created":{"date-parts":[[2005,12,22]],"date-time":"2005-12-22T20:46:43Z","timestamp":1135284403000},"page":"398-403","source":"Crossref","is-referenced-by-count":74,"title":["Spastic paraplegia type 2 associated with axonal neuropathy and apparent <i>PLP1<\/i> position effect"],"prefix":"10.1002","volume":"59","author":[{"given":"Jennifer A.","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo E.","family":"Madrid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Sperle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolyn M.","family":"Ritterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace 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