{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:40:43Z","timestamp":1790786443604,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,4,28]],"date-time":"2015-04-28T00:00:00Z","timestamp":1430179200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Caroline Weiss Law Fund"},{"DOI":"10.13039\/100000861","name":"Burroughs Welcome Fund Career Award","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000861","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2015,6]]},"abstract":"Abstract<\/jats:title>\n \n Background: The aim of this study was to describe a case of hereditary spastic paraplegia (\n HSP<\/jats:styled-content>\n ) resulting from\n \n SPG<\/jats:styled-content>\n 11\n <\/jats:italic>\n mutations, presenting with a complex phenotype of dopa\u2010responsive dystonia (\n DRD<\/jats:styled-content>\n ), diagnosed using whole exome sequencing (\n WES<\/jats:styled-content>\n ).\n HSP<\/jats:styled-content>\n resulting from\n \n SPG<\/jats:styled-content>\n 11\n <\/jats:italic>\n typically presents with spasticity, cognitive impairment, and radiological evidence of thin corpus callosum. Initial presentation with\n DRD<\/jats:styled-content>\n has not been previously reported on. Methods: This 11\u2010year\u2010old boy with delay in fine motor skills, presented at 8\u00a0years of age with progressive, generalized dystonia with diurnal variation, bradykinesia, and stiff gait. There was marked improvement in dystonia with levodopa, but he soon developed wearing\u2010off phenomenon and\n l<\/jats:sc>\n \u2010dopa\u2010induced dyskinesia. Family history was unremarkable. Results: Brain\n MRI<\/jats:styled-content>\n showed thinning of the anterior corpus callosum with periventricular white matter changes.\n 123<\/jats:sup>\n I\u2010ioflupane single\u2010photon emission coupled tomography showed bilateral severe presynaptic dopamine deficiency.\n WES<\/jats:styled-content>\n identified transheterozygous allelic variants in the\n \n SPG<\/jats:styled-content>\n 11\n <\/jats:italic>\n on chromosome 15, including a truncating\n STOP<\/jats:styled-content>\n mutation (p.E1630X) and a second heterozygous coding variant (p.L2300R). Dystonia improved with globus pallidus internus (\n GP<\/jats:styled-content>\n i)\n DBS<\/jats:styled-content>\n surgery. Conclusions: HSP resulting from\n \n SPG<\/jats:styled-content>\n 11\n <\/jats:italic>\n should be considered in the differential diagnosis of a patient presenting with\n DRD<\/jats:styled-content>\n , parkinsonism, and spasticity. This case expands the\n HSP<\/jats:styled-content>\n genotype and phenotype.\n GP<\/jats:styled-content>\n i\n DBS<\/jats:styled-content>\n may be a therapeutic option in selected patients.\n <\/jats:p>","DOI":"10.1002\/mdc3.12144","type":"journal-article","created":{"date-parts":[[2015,4,28]],"date-time":"2015-04-28T07:05:05Z","timestamp":1430204705000},"page":"149-154","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["\n SPG<\/scp>\n 11\n <\/i>\n Mutations Associated With a Complex Phenotype Resembling Dopa\u2010Responsive Dystonia"],"prefix":"10.1002","volume":"2","author":[{"given":"Subhashie","family":"Wijemanne","sequence":"first","affiliation":[{"name":"Parkinson's Disease Center and Movement Disorders Clinic Department of Neurology Baylor College of Medicine Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua M.","family":"Shulman","sequence":"additional","affiliation":[{"name":"Parkinson's Disease Center and Movement Disorders Clinic Department of Neurology Baylor College of Medicine Houston Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA"},{"name":"Department of Neuroscience Baylor College of Medicine Houston Texas USA"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joohi","family":"Jimenez\u2010Shahed","sequence":"additional","affiliation":[{"name":"Parkinson's Disease Center and Movement Disorders Clinic Department of Neurology Baylor College of Medicine Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Curry","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital Houston Texas 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