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Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome
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Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome
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Journal Article
Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome
2026
Overview
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.
Publisher
BMJ Publishing Group Ltd,BMJ Publishing Group LTD
Subject
/ Amyotrophic lateral sclerosis
/ Antiparkinson Agents - therapeutic use
/ Ataxia
/ Dopamine
/ Gait
/ Genetic screening / counselling
/ Humans
/ Male
/ Movement disorders (other than Parkinsons)
/ Mutation
/ Parkinson Disease - drug therapy
/ Parkinson Disease - genetics
/ Parkinsonian Disorders - drug therapy
/ Parkinsonian Disorders - genetics
/ Patients
/ Posture
/ Proteins
