{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:16:43Z","timestamp":1786119403230,"version":"build-2736575974"},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title\/>\n                    <jats:p>Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/cnd.0b013e3181ae3c06","type":"journal-article","created":{"date-parts":[[2009,8,30]],"date-time":"2009-08-30T03:12:32Z","timestamp":1251601952000},"page":"57-59","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Novel SPG3A and SPG4 Mutations in Two Patients With Silver Syndrome"],"prefix":"10.1097","volume":"11","author":[{"given":"Johnny S","family":"Salameh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anant M","family":"Shenoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-9-20240808","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s11910-996-0011-1","article-title":"Hereditary spastic paraplegia.","volume":"6","author":"Fink","year":"2006","journal-title":"Curr Neurol Neurosci Rep"},{"key":"R2-9-20240808","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias.","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"R3-9-20240808","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 Psychiatric"},{"key":"R4-9-20240808","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1086\/321267","article-title":"The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.","volume":"69","author":"Patel","year":"2001","journal-title":"Am J Hum Genet"},{"key":"R5-9-20240808","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ng1313","article-title":"Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.","volume":"36","author":"Windpassinger","year":"2004","journal-title":"Nat Genet"},{"key":"R6-9-20240808","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1086\/344210","article-title":"A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).","volume":"71","author":"Reid","year":"2002","journal-title":"Am J Hum Genet"},{"key":"R7-9-20240808","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1212\/01.wnl.0000294330.27058.61","article-title":"Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4.","volume":"70","author":"Orlacchio","year":"2008","journal-title":"Neurology"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00131402-200909000-00009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:04:33Z","timestamp":1786039473000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00131402-200909000-00009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0b013e3181ae3c06","relation":{},"ISSN":["1522-0443"],"issn-type":[{"value":"1522-0443","type":"print"}],"subject":[],"published":{"date-parts":[[2009,9]]}}}