4.3 Article

Effects of brain derived neurotrophic factor Va166Met polymorphism in patients with cervical spondylotic myelopathy

Journal

JOURNAL OF CLINICAL NEUROSCIENCE
Volume 24, Issue -, Pages 117-121

Publisher

ELSEVIER SCI LTD
DOI: 10.1016/j.jocn.2015.07.016

Keywords

BDNF; Cervical genetics; Cervical myelopathy; CSM; Genetic component of CSM; Myelopathy; Va166Met

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Cervical spondylotic myelopathy (CSM) is the leading cause of spinal cord related disability in the elderly. It results from degenerative narrowing of the spinal canal, which causes spinal cord compression. This leads to gait instability, loss of dexterity, weakness, numbness and urinary dysfunction. There has been indirect data that implicates a genetic component to CSM. Such a finding may contribute to the variety in presentation and outcome in this patient population. The Va166Met polymorphism, a mutation in the brain derived neurotrophic factor (BDNF) gene, has been implicated in a number of brain and psychological conditions, and here we investigate its role in CSM. Ten subjects diagnosed with CSM were enrolled in this prospective study. Baseline clinical evaluation using the modified Japanese Orthopaedic Association (mJOA) scale, Nurick and 36-Item Short Form Health Survey (SF-36) were collected. Each subject underwent objective testing with gait kinematics, as well as hand functioning using the Purdue Peg Board. Blood samples were analyzed for the BDNF Va166Met mutation. The prevalence of the Va166Met mutation in this study was 60% amongst CSM patients compared to 32% in the general population. Individuals with abnormal Met allele had worse baseline mJOA and Nurick scores. Moreover, baseline gait kinematics and hand functioning testing were worse compared to their wild type counterpart. BDNF Va166Met mutation has a higher prevalence in CSM compared to the general population. Those with BDNF mutation have a worse clinical presentation compared to the wild type counterpart. These findings suggest implication of the BDNF mutation in the development and severity of CSM. (C) 2015 Elsevier Ltd. All rights reserved.

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