title: Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.
abstract: OBJECTIVE
  In the past decade, hereditary forms of motor neuron disease (spinal muscular atrophy and/or amyotrophic lateral sclerosis) are increasingly identified. As advanced genetic testing is performed, molecular diagnosis can be obtained. Identifying new gene mutations can lead to further understanding of disease.
  
  
  RESULTS
  We report a single case of a patient with early-onset amyotrophic lateral sclerosis, evaluated at University of Texas Health Houston Science Center from 2011-2014. Initial genetic testing did not reveal an etiology in this patient. Through whole-exome sequencing, a VRK1 mutation was identified.
  
  
  CONCLUSIONS
  We identify a possible new cause of hereditary amyotrophic lateral sclerosis, VRK1 mutation. This case report also expands the phenotypic spectrum of this mutation in neurologic diseases.
authors.affiliation: *Department of Neurology, University of Texas Health Science Center at Houston, Houston, TX; and †Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
authors.forename: Thy P
authors.initials: TP
authors.lastname: Nguyen
authors.forename: Suur
authors.initials: S
authors.lastname: Biliciler
authors.forename: Wojciech
authors.initials: W
authors.lastname: Wiszniewski
authors.forename: Kazim
authors.initials: K
authors.lastname: Sheikh
mesh_terms: D000328:Adult; D019295:Computational Biology; D005820:Genetic Testing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D016472:Motor Neuron Disease / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D017346:Protein Serine-Threonine Kinases; C109890:VRK1 protein, human