Key result
Novel homozygous VRK1 p.W375X mutation linked to recessive dHMN presenting as pure motor axonal neuropathy.
Case Report (n=1)
Identifies a novel VRK1 mutation causing recessive distal hereditary motor neuropathy, expanding the genetic spectrum of the disease.
May support VRK1 inclusion in neuropathy gene panels; extends spectrum but remains hypothesis-generating.
Vaccinia‐related kinase 1 (VRK1) mutations can cause motor phenotypes including axonal sensorimotor neuropathy, distal hereditary motor neuropathy (dHMN), spinal muscular atrophy, and amyotrophic lateral sclerosis. Here, we identify a novel homozygous VRK1 p.W375X mutation causing recessive dHMN. The proband presented with juvenile onset of weakness in the distal lower extremities, slowly progressing to the distal upper limbs, with bilateral pes cavus and no upper motor or sensory neuron involvement. Nerve conduction studies showed a pure motor axonal neuropathy. Our findings extend the ethnic distribution of VRK1 mutations, indicating that these mutations should be included in genetic diagnostic testing for dHMN.
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Feng et al. (2018) conducted a case report in Recessive distal hereditary motor neuropathy (dHMN) (n=1). Homozygous VRK1 p.W375X mutation was evaluated on Clinical phenotype and nerve conduction study findings. A novel homozygous VRK1 p.W375X mutation was identified as the cause of recessive distal hereditary motor neuropathy presenting as a pure motor axonal neuropathy.
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