{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T10:07:11Z","timestamp":1782986831498,"version":"3.54.5"},"reference-count":12,"publisher":"Cold Spring Harbor Laboratory","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p>Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the <jats:italic>SPG20<\/jats:italic> gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families with a genetically confirmed diagnosis have been reported. Here we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the <jats:italic>SPG20<\/jats:italic> gene, c.1369C&gt;T (p.Arg457*), in the three affected boys.<\/jats:p>","DOI":"10.1101\/mcs.a001537","type":"journal-article","created":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T01:12:14Z","timestamp":1491354734000},"page":"a001537","source":"Crossref","is-referenced-by-count":20,"title":["<i>SPG20<\/i> mutation in three siblings with familial hereditary spastic paraplegia"],"prefix":"10.1101","volume":"3","author":[{"given":"Leila","family":"Dardour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filip","family":"Roelens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Race","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Souche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maureen","family":"Holvoet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2017,4,4]]},"reference":[{"key":"2021112506121616000_3.4.a001537.1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050403"},{"key":"2021112506121616000_3.4.a001537.2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.4.520"},{"key":"2021112506121616000_3.4.a001537.3","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/S1090-3798(98)80038-X","article-title":"Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome","volume":"2","year":"1998","journal-title":"Eur J Paediatr Neurol"},{"key":"2021112506121616000_3.4.a001537.4","doi-asserted-by":"crossref","first-page":"1780","DOI":"10.1002\/ajmg.a.37658","article-title":"Three cases of Troyer syndrome in two families of Filipino descent","volume":"170","year":"2016","journal-title":"Am J Med Genet A"},{"key":"2021112506121616000_3.4.a001537.5","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470230025003"},{"key":"2021112506121616000_3.4.a001537.6","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/S0303-8467(96)00596-3","article-title":"Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity?","volume":"99","year":"1997","journal-title":"Clin Neurol Neurosurg"},{"key":"2021112506121616000_3.4.a001537.7","doi-asserted-by":"crossref","unstructured":"Fink JK . 2000. Last Update: 2014. Hereditary spastic paraplegia overview. GeneReviews. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1509\/ .","DOI":"10.1016\/B978-0-12-801238-3.05591-4"},{"key":"2021112506121616000_3.4.a001537.8","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.46"},{"key":"2021112506121616000_3.4.a001537.9","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/ng937","article-title":"SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia","volume":"31","year":"2002","journal-title":"Nat Genet"},{"key":"2021112506121616000_3.4.a001537.10","first-page":"1105","article-title":"Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia","volume":"251","year":"2004","journal-title":"J Neurol"},{"key":"2021112506121616000_3.4.a001537.11","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_580"},{"key":"2021112506121616000_3.4.a001537.12","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.mcp.2015.05.006","article-title":"Recurrent null mutation in SPG20 leads to Troyer syndrome","volume":"29","year":"2015","journal-title":"Mol Cell Probes"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a001537","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T14:12:31Z","timestamp":1637849551000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a001537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,4]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2017,7,5]]},"published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1101\/mcs.a001537"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a001537","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,4]]}}}