Expanding phenotype of VRK1 mutations in motor neuron disease

Thy P. Nguyen, Suur Biliciler, Wojciech Wiszniewski, Kazim Sheikh

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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. Methods and Results: We report a single case of a patient with earlyonset 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 wholeexome sequencing, a VRK1 mutation was identified. Conclusions and Relevance: 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.

Original languageEnglish (US)
Pages (from-to)69-71
Number of pages3
JournalJournal of clinical neuromuscular disease
Volume17
Issue number2
DOIs
StatePublished - 2015

Keywords

  • All neuromuscular disease
  • Amyotrophic lateral sclerosis
  • Anterior nerve cell disease
  • Motor neuron disease
  • Neurogenetics

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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