Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome
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.
Fields of Study & Subjects
Parkinson's Disease Mechanisms and Treatments
Hereditary Neurological Disorders
Neurological disorders and treatments
Publication details
- Journal / source
- BMJ Case Reports
- Volume
- 19
- Issue
- 2
- Pages
- e267762–e267762
- Publication date
- 1 February 2026
- Language
- EN