{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T08:38:33Z","timestamp":1782549513853,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Describe the main features of subjects with SPG7 mutations associated with movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sixteen affected subjects from 11 families were identified. Male sex predominated (10 of 16) and the mean age at onset was 41.25\u2009\u00b1\u200916.1\u2009years. A cerebellar syndrome was the most frequent clinical movement disorder phenotype (7 of 16); however, parkinsonism (2 of 16), dystonia (1 of 16), and mixed phenotypes between them were also seen. The \u201cears of the lynx\u201d sign was found in four subjects. A total of nine SPG7 variants were found, of which the most frequent was the c.1529C\u2009&gt;\u2009T (p.Ala510Val).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case series expands the motor phenotype associated with SPG7 mutations. Clinicians must consider this entity in single or familial cases with combined movement disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13437","type":"journal-article","created":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T10:23:50Z","timestamp":1647080630000},"page":"522-529","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia"],"prefix":"10.1002","volume":"9","author":[{"given":"Michel","family":"S\u00e1enz\u2010Farret","sequence":"first","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto  Toronto Ontario Canada"},{"name":"Krembil Brain Institute  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Kalia","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto  Toronto Ontario Canada"},{"name":"Krembil Brain Institute  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas","family":"Cunha","sequence":"additional","affiliation":[{"name":"Neurology Department Coimbra Hospital and Universitary Centre  Coimbra Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rio","family":"Sousa","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greg","family":"Kuhlman","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Ganos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Charit\u00e9 University Medicine Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato P.","family":"Munhoz","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5346-0180","authenticated-orcid":false,"given":"Alfonso","family":"Fasano","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto  Toronto Ontario Canada"},{"name":"Krembil Brain Institute  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Eduardo","family":"Pi\u00f1a\u2010Avil\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Civil de Guadalajara \u201cFray Antonio Alcalde\u201d  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4319-5875","authenticated-orcid":false,"given":"Carlos","family":"Z\u00fa\u00f1iga\u2010Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Movement Disorders and Neurodegenerative Diseases Unit Hospital Civil de Guadalajara \u201cFray Antonio Alcalde\u201d  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-019-0930-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01896.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28528"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27812"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws224"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50967"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051076"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12580"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000552"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.1109"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12711"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-021-02345-y"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0153283"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.12.004"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu060"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2021.118062"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000007606"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13437","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.13437","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13437","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:51:08Z","timestamp":1760964668000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/mdc3.13437"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13437","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"2021-11-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}