What question did this study set out to answer?

February 5, 2026BMJ Case Reports0 citations

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome

BKBoyana R KuzmanovaHirslanden Private Hospital Group MKMaria R KuzmanovaUniversity Hospital of Zurich MEMagdeldin ElgizouliUniversity of Zurich

Key Points

To investigate a novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome.
Genetic analysis conducted to identify mutations in the KIF5A gene.
Case analysis of a male patient with neurological symptoms.
Assessment of the clinical presentation and motor reactions to levodopa.
Identified a novel heterozygous variant c.937G>A (p.Glu313Lys) in the KIF5A gene.
The variant is classified as likely pathogenic.
The patient's symptoms included parkinsonism, gait ataxia, and spastic paraplegia.

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.

AIに質問

Bookmark

View Full Paper

Cite This Study

Kuzmanova et al. (Sun,) studied this question.

synapsesocial.com/papers/6984346ff1d9ada3c1fb28be https://doi.org/https://doi.org/10.1136/bcr-2025-267762

AIに質問

Bookmark

View Full Paper