Open AccessA novel VRK1 mutation associated with recessive distal hereditary motor neuropathy
Author(s) -
Feng ShuYan,
Li LiuYi,
Feng ShuMan,
Zou ZhangYu
Publication year - 2019
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.701
Subject(s) - medicine , hereditary motor and sensory neuropathy , pes cavus , proband , amyotrophic lateral sclerosis , weakness , mutation , anatomy , pathology , genetics , gene , disease , surgery , biology , complication
Vaccinia‐related kinase 1 ( VRK 1 ) 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 VRK 1 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 VRK 1 mutations, indicating that these mutations should be included in genetic diagnostic testing for dHMN .