{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:07:31Z","timestamp":1790687251068,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,3,4]],"date-time":"2011-03-04T00:00:00Z","timestamp":1299196800000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2011,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background:<\/jats:bold> Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the <jats:italic>SPG11<\/jats:italic> gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> We describe one Italian autosomal recessive hereditary spastic paraplegia with thin corpus callosum patient who unusually presented at onset, 16 years, with parkinsonism\u2010like features, responsive to dopaminergic therapy. Then the clinical picture evolved and became more complex. A brain magnetic resonance imaging scan showed thin corpus callosum and hyperintense T<jats:sub>2<\/jats:sub>\u2010weighted lesions in periventricular regions, and the <jats:sup>123<\/jats:sup>I\u2010ioflupane single\u2010photon emission coupled tomography was abnormal.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> Genetic analysis detected two novel mutations, a c.3664insT variant in compound heterozygosity with a c.6331insG mutation, in <jats:italic>SPG11<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Discussion:<\/jats:bold> This case confirms the high genetic and clinical heterogeneity associated with <jats:italic>SPG11<\/jats:italic> mutations. It also offers further evidence that parkinsonism may initiate autosomal recessive hereditary spastic paraplegia with thin corpus callosum and that parkinsonian symptoms can have variable dopaminergic response in these patients. \u00a9 2011 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23552","type":"journal-article","created":{"date-parts":[[2011,3,4]],"date-time":"2011-03-04T08:30:30Z","timestamp":1299227430000},"page":"553-556","source":"Crossref","is-referenced-by-count":68,"title":["Novel mutations in <i>SPG11<\/i> cause hereditary spastic paraplegia associated with early\u2010onset levodopa\u2010responsive Parkinsonism"],"prefix":"10.1002","volume":"26","author":[{"given":"Arianna","family":"Guidubaldi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Piano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo 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