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Updated: Jul 10, 2026

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag
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Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson's syndrome

Boyana R Kuzmanova1, Maria R Kuzmanova2, Magdeldin Elgizouli3

  • 1Neurology, Hirslanden Hospital Group, Zurich, Switzerland kuzmanob@gmail.com.

BMJ Case Reports
|February 2, 2026
PubMed

Insights

A novel KIF5A gene variant likely causes a complex neurological disorder including parkinsonism and spastic paraplegia. This finding expands the known spectrum of KIF5A-related neurodegenerative diseases.

Area of Science:

  • Neurogenetics
  • Neurology
  • Molecular Genetics

Background:

  • KIF5A gene mutations are linked to hereditary spastic paraplegia, Charcot-Marie-Tooth disease, and amyotrophic lateral sclerosis.
  • Complex neurological phenotypes present diagnostic challenges.

Purpose of the Study:

  • To report a novel KIF5A variant in a patient with a complex progressive neurological disorder.
  • To discuss the clinical, genetic, and prognostic implications of this KIF5A variant.

Main Methods:

  • Clinical case presentation.
  • Genetic analysis identifying a novel heterozygous variant in the KIF5A gene (c.937G>A, p.Glu313Lys).

Main Results:

  • A male patient in his mid-30s presented with levodopa-responsive parkinsonism, motor fluctuations, gait ataxia, peripheral neuropathy, and spastic paraplegia.
  • A likely pathogenic heterozygous variant, c.937G>A (p.Glu313Lys), was identified in the KIF5A gene.

Conclusions:

  • This case expands the phenotypic spectrum associated with KIF5A mutations.
  • The identified KIF5A variant is likely pathogenic and contributes to a complex neurological disorder.
Keywords:
Brain stem / cerebellumGenetic screening / counsellingMotor neurone diseaseMovement disorders (other than Parkinsons)Muscle disease

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