{
  "abstract": "We present the case of a male in his mid-30s with a progressive complex neurological phenotype primarily characterised by levodopa-responsive parkinsonism with motor fluctuations as well as gait ataxia, peripheral neuropathy and finally also spastic paraplegia. Genetic analysis identified a novel heterozygous variant in the KIF5A gene: c.937G>A (p.Glu313Lys). This variant is genetically classified as likely pathogenic. Other pathogenic mutations in the KIF5A gene are associated with hereditary spastic paraplegia type 10, Charcot-Marie-Tooth disease type 2 and amyotrophic lateral sclerosis. We discuss the clinical, genetic and prognostic implications of this finding.",
  "authors": [
    {
      "affiliations": [
        "Neurology, Hirslanden Hospital Group, Zurich, Switzerland"
      ],
      "name": "Boyana R Kuzmanova"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, University Hospital Zurich, Zürich, Switzerland"
      ],
      "name": "Maria R Kuzmanova"
    },
    {
      "affiliations": [
        "University of Zurich Institute of Medical Genetics, Schwerzenbach, Zurich, Switzerland"
      ],
      "name": "Magdeldin Elgizouli"
    },
    {
      "affiliations": [
        "University of Zurich Institute of Medical Genetics, Schwerzenbach, Zurich, Switzerland"
      ],
      "name": "Benjamin Tatrai"
    },
    {
      "affiliations": [
        "Hôpital Fribourgeois Site de Meyriez-Murten, Murten, Fribourg, Switzerland"
      ],
      "name": "J Carsten Möller"
    }
  ],
  "title": "Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome",
  "uid": "99a30f6f-5659-5559-8226-e684ddde1e82"
}