{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:44:22Z","timestamp":1761007462410,"version":"build-2065373602"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,12,20]],"date-time":"2007-12-20T00:00:00Z","timestamp":1198108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2008,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated <jats:italic>spastic paraplegia 15<\/jats:italic> (<jats:italic>SPG15<\/jats:italic>), located in a 16\u2010Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the <jats:italic>SPG15<\/jats:italic> locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin <jats:italic>corpus callosum<\/jats:italic> is not a constant feature in this entity. \u00a9 2007 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21848","type":"journal-article","created":{"date-parts":[[2007,12,20]],"date-time":"2007-12-20T16:52:01Z","timestamp":1198169521000},"page":"429-433","source":"Crossref","is-referenced-by-count":16,"title":["Spastic paraplegia 15: Linkage and clinical description of three Tunisian families"],"prefix":"10.1002","volume":"23","author":[{"given":"Amir","family":"Boukhris","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imed","family":"Feki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elodie","family":"Denis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Imed","family":"Miladi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexis","family":"Brice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chokri","family":"Mhiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,20]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.69.2.150"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.10.871"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92879-9"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-996-0011-1"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/510782"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1980"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1959.03840020007002"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.9.1230"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/75514"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000201185.91110.15"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl012"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/379522"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000262043.53386.22"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.63.5.628"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-007-0097-x"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.21848","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.21848","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T13:35:40Z","timestamp":1760967340000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.21848"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,20]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,2,15]]}},"alternative-id":["10.1002\/mds.21848"],"URL":"https:\/\/doi.org\/10.1002\/mds.21848","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"type":"print","value":"0885-3185"},{"type":"electronic","value":"1531-8257"}],"subject":[],"published":{"date-parts":[[2007,12,20]]}}}