title: Effects of brain derived neurotrophic factor Val66Met polymorphism in patients with cervical spondylotic myelopathy.
abstract: 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 Val66Met 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 Val66Met mutation. The prevalence of the Val66Met 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 Val66Met 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.
authors.affiliation: Department of Neurosurgery, Carver College of Medicine, The University of Iowa, 200 Hawkins Drive, Iowa City, IA 52245, USA. Electronic address: kingsley-abode-iyamah@uiowa.edu.
authors.forename: Kingsley O
authors.initials: KO
authors.lastname: Abode-Iyamah
authors.affiliation: Department of Bioengineering, The University of Iowa, Iowa City, IA, USA.
authors.forename: Kirsten E
authors.initials: KE
authors.lastname: Stoner
authors.affiliation: Department of Neurosurgery, Carver College of Medicine, The University of Iowa, 200 Hawkins Drive, Iowa City, IA 52245, USA.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Grossbach
authors.affiliation: Department of Neurosurgery, Carver College of Medicine, The University of Iowa, 200 Hawkins Drive, Iowa City, IA 52245, USA.
authors.forename: Stephanus V
authors.initials: SV
authors.lastname: Viljoen
authors.affiliation: Department of Physical Therapy and Rehabilitation Science, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
authors.forename: Colleen L
authors.initials: CL
authors.lastname: McHenry
authors.affiliation: Department of Physical Therapy and Rehabilitation Science, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Petrie
authors.affiliation: Department of Neurosurgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
authors.forename: Nader S
authors.initials: NS
authors.lastname: Dahdaleh
authors.affiliation: Department of Bioengineering, The University of Iowa, Iowa City, IA, USA.
authors.forename: Nicole M
authors.initials: NM
authors.lastname: Grosland
authors.affiliation: Department of Bioengineering, The University of Iowa, Iowa City, IA, USA; Department of Veterans Affairs, VA Medical Center, Iowa City, IA, USA.
authors.forename: Richard K
authors.initials: RK
authors.lastname: Shields
authors.affiliation: Department of Neurosurgery, Carver College of Medicine, The University of Iowa, 200 Hawkins Drive, Iowa City, IA 52245, USA.
authors.forename: Matthew A
authors.initials: MA
authors.lastname: Howard
mesh_terms: D000368:Aged; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D002574:Cervical Vertebrae; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011446:Prospective Studies; D013117:Spinal Cord Compression / Q000209:etiology; D013118:Spinal Cord Diseases / Q000209:etiology / Q000235:genetics*; D055009:Spondylosis / Q000150:complications / Q000235:genetics*
chemical_list: D019208:Brain-Derived Neurotrophic Factor; C579455:BDNF protein, human
keywords: BDNF; CSM; Cervical genetics; Cervical myelopathy; Genetic component of CSM; Myelopathy; Val66Met