{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T10:55:45Z","timestamp":1740135345403,"version":"3.37.3"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,12,14]],"date-time":"2019-12-14T00:00:00Z","timestamp":1576281600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. Our aim was to investigate the genetic background and clinical phenotype of spastic paraplegia in large Polish family.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>A 37\u2009years old woman presented with 4-year history of walking difficulties. On neurological examination, she had signs of upper motor lesion in lower extremities. She denied sphincter dysfunction and her cognition was normal. Her family history was positive for individuals with gait problems. The initial diagnosis was familial spastic paraplegia. Genetic testing identified a novel mutation in <jats:italic>SPAST<\/jats:italic> gene. All available family members were examined and had genetic testing. The same mutation in <jats:italic>SPAST<\/jats:italic> gene was identified in other affected family members. All patients caring the mutation presented with different phenotypes.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>This study presents a family with spastic paraplegia due to a novel mutation c.1390G\u203aT(p.Glu464Term) in <jats:italic>SPAST<\/jats:italic> gene. Affected individuals showed a range of phenotypes that varied in their severity. This case report demonstrates, the signs of hereditary spastic paraplegia can be often misdiagnosed with other diseases. Therefore genetic testing should always be considered in patients with lower limb spasticity and positive family history in order to help to establish the correct diagnosis.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12883-019-1561-6","type":"journal-article","created":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T14:53:08Z","timestamp":1576507988000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7480-5723","authenticated-orcid":false,"given":"Aleksandra","family":"Klimkowicz-Mrowiec","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Dziubek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata","family":"Sado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Karpi\u0144ski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Gorzkowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,12,14]]},"reference":[{"key":"1561_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jns.2012.03.025","volume":"318","author":"J Finsterer","year":"2012","unstructured":"Finsterer J, L\u00f6scher W, Quasthoff S, Wanschitz J, Auer-Grumbach M. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci. 2012;318:1\u201318. https:\/\/doi.org\/10.1016\/j.jns.2012.03.025.","journal-title":"J Neurol Sci"},{"key":"1561_CR2","doi-asserted-by":"publisher","first-page":"2471","DOI":"10.1093\/brain\/awv178","volume":"138","author":"JM Solowska","year":"2015","unstructured":"Solowska JM, Baas PW. Hereditary spastic paraplegia SPG4: what is known and not known about the disease. Brain. 2015;138:2471\u201384. https:\/\/doi.org\/10.1093\/brain\/awv178.","journal-title":"Brain"},{"key":"1561_CR3","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1136\/jnnp.2007.128827","volume":"79","author":"A Orlacchio","year":"2008","unstructured":"Orlacchio A, Patrono C, Borreca A, Babalini C, Bernardi G, Kawari T. Spastic paraplegia in Romania: high prevalence of SPG4 mutations. J Neurol Neurosurg Psychiatry. 2008;79:606\u20137. https:\/\/doi.org\/10.1136\/jnnp.2007.128827.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"1561_CR4","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG laboratory quality assurance committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for molecular pathology. Genet Med. 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30 Epub 2015 Mar 5.","journal-title":"Genet Med"},{"key":"1561_CR5","doi-asserted-by":"publisher","first-page":"14412","DOI":"10.1038\/s41598-019-50911-9","volume":"8","author":"VA Kadnikova","year":"2019","unstructured":"Kadnikova VA, Rudenskaya GE, Stepanova AA, Sermyagina IG, Ryzhkova OP. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) genes in Russian patients with hereditary spastic paraplegia. Sci Rep. 2019;8:14412. https:\/\/doi.org\/10.1038\/s41598-019-50911-9.","journal-title":"Sci Rep"},{"key":"1561_CR6","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1001\/jamaneurol.2013.1707","volume":"70","author":"P Coutinho","year":"2013","unstructured":"Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimar\u00e3es J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC. hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. JAMA Neurol. 2013;70:746\u201355. https:\/\/doi.org\/10.1001\/jamaneurol.2013.1707.","journal-title":"JAMA Neurol"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-019-1561-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12883-019-1561-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-019-1561-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T00:03:21Z","timestamp":1607817801000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-019-1561-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["1561"],"URL":"https:\/\/doi.org\/10.1186\/s12883-019-1561-6","relation":{},"ISSN":["1471-2377"],"issn-type":[{"type":"electronic","value":"1471-2377"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"3 October 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 December 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 December 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Written consent was obtained from all study participants patients for genetic testing.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient and all other family members, for publication of this case report and any accompanying images. A copies of the written consents are available for review by the Editor of this journal.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"322"}}