{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T04:37:06Z","timestamp":1718426226633},"reference-count":8,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,7,12]],"date-time":"2012-07-12T00:00:00Z","timestamp":1342051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">SPG<\/jats:styled-content>10 is a rare form of autosomic dominant hereditary spastic paraplegia (<jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>) caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>5A<\/jats:italic> gene, which may be involved in axonal transport.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the characteristics of a French family with a novel missense mutation c.580\u00a0G&gt;C in exon 7 of the <jats:italic><jats:styled-content style=\"fixed-case\">KIF<\/jats:styled-content>5A<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband and his sister presented with an adult onset <jats:styled-content style=\"fixed-case\">HSP<\/jats:styled-content>, a sensory spinal cord\u2010like syndrome, dysautonomia, and severe axonal polyneuropathy. Contrary to the proband, his sister presented a secondary improvement in spasticity and walking. In the proband, <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> findings consisted in spinal cord atrophy and symmetric cerebral demyelination, whereas the skin biopsy suggested a defect in the number of vesicles and synaptophysin density at the pre\u2010synaptic membrane.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study extends the phenotype of <jats:styled-content style=\"fixed-case\">SPG<\/jats:styled-content>10 and argues for abnormalities in the axonal vesicular transport.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1468-1331.2012.03803.x","type":"journal-article","created":{"date-parts":[[2012,7,13]],"date-time":"2012-07-13T08:20:34Z","timestamp":1342167634000},"page":"398-401","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Novel <scp>SPG<\/scp>10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality"],"prefix":"10.1111","volume":"20","author":[{"given":"N.","family":"Collongues","sequence":"first","affiliation":[{"name":"Department of Neurology University of Strasbourg Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Depienne","sequence":"additional","affiliation":[{"name":"Department of Genetics, APHP Groupe Hospitalier Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"Centre de Recherche de l'Institut du Cerveau et de la Moelle \u00e9pini\u00e8re INSERM\/UPMC 975 CNRS 7225 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Boehm","sequence":"additional","affiliation":[{"name":"INSERM U666 Strasbourg France"},{"name":"Department of Histology University of Strasbourg Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Echaniz\u2010Laguna","sequence":"additional","affiliation":[{"name":"Department of Neurology University of 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