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Article

<i> <scp>SPG</scp> 11 </i> Mutations Associated With a Complex Phenotype Resembling Dopa‐Responsive Dystonia

28 Apr 2015

Abstract excerpt

Abstract Background: The aim of this study was to describe a case of hereditary spastic paraplegia ( HSP ) resulting from SPG 11 mutations, presenting with a complex phenotype of dopa‐responsive dystonia ( DRD ), diagnosed using whole exome sequencing ( WES ). HSP resulting from SPG 11 typically presents with spasticity, cognitive impairment, and radiological evidence of thin corpus callosum. Initial presentation...

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PMID: 30363882
DOI: 10.1002/mdc3.12144

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