SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.

ABSTRACT:

Background

The aim of this study was to describe a case of hereditary spastic paraplegia (HSP) resulting from SPG11 mutations, presenting with a complex phenotype of dopa-responsive dystonia (DRD), diagnosed using whole exome sequencing (WES). HSP resulting from SPG11 typically presents with spasticity, cognitive impairment, and radiological evidence of thin corpus callosum. Initial presentation with DRD has not been previously reported on.

Methods

This 11-year-old boy with delay in fine motor skills, presented at 8 years 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-off phenomenon and l-dopa-induced dyskinesia. Family hist

SUBMITTER: Wijemanne S 

PROVIDER: S-EPMC6183009 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature