TY - JOUR
T1 - Expanding phenotype of VRK1 mutations in motor neuron disease
AU - Nguyen, Thy P.
AU - Biliciler, Suur
AU - Wiszniewski, Wojciech
AU - Sheikh, Kazim
N1 - Publisher Copyright:
© 2015 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - All neuromuscular disease
KW - Amyotrophic lateral sclerosis
KW - Anterior nerve cell disease
KW - Motor neuron disease
KW - Neurogenetics
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U2 - 10.1097/CND.0000000000000096
DO - 10.1097/CND.0000000000000096
M3 - Article
C2 - 26583493
AN - SCOPUS:84948449439
SN - 1522-0443
VL - 17
SP - 69
EP - 71
JO - Journal of clinical neuromuscular disease
JF - Journal of clinical neuromuscular disease
IS - 2
ER -