Clinical, Radiographic, and Genetic Analyses in a Population-Based Cohort of Adult Spinal Deformity in the Older Population

Abstract

Objective: This study aimed to identify the sagittal parameters associated with health-related quality of life and genetic variations that increase the risk of adult spinal deformity (ASD) onset in the older population.Methods: We recruited 120 participants who had a sagittal vertical axis > 50 mm in a sagittal imbalance study. Sagittal radiographic parameters, cross-sectional area, and intramuscular fatty infiltration using the Goutallier classification in the paraspinal lumbar muscles were evaluated. Functional scales included the self-reported Oswestry Disability Index (ODI), 36-item Short Form Health Survey (SF-36), and visual analogue scales (VAS) for back and leg pain. We performed whole-exome sequencing and an exome-wide association study using the 100 control subjects and 63 individuals with severe phenotypes of sagittal imbalance.Results: Pelvic incidence minus lumbar lordosis (PI–LL) mismatch was negatively associated with the SF-36 and positively correlated with ODI and VAS for back and leg pain. PI–LL was related to the quality and size of the paraspinal muscles, especially the multifidus muscle. We identified common individual variants that reached exome-wide significance using single-variant analysis. The most significant single-nucleotide polymorphism was rs78773460, situated in an exon of the SVIL gene (odds ratio, 9.61; p = 1.15 × 10-9).Conclusion: Older age, higher body mass index, and a more significant PI–LL mismatch were associated with unfavorable results on functional scales. We found a genetic variation in the SVIL gene, which has been associated with the integrity of the cytoskeleton and the development of skeletal muscles, in severe ASD phenotypes. Our results help to elucidate the pathogenesis of ASD.

Genetic Odyssey to Ossification of the Posterior Longitudinal Ligament in the Cervical Spine: A Systematic Review

“…One is named idiopathic OPLL, which may be triggered by mechanical stress, comorbid diseases, and specific nutritional patterns. Mechanical stress to the cervical spine is usually focused on low cervical spine, high mobile segments [ 49 , 50 ]. Segmental OPLL usually occur at the segments, but continuous OPLL usually involve upper cervical spine.…”

“…Mechanical stress to the cervical spine is usually focused on low cervical spine, high mobile segments. 49,50 Segmental OPLL usually occur at the segments, but continuous OPLL usually involve upper cervical spine. Segmental or localized OPLL may be developed by this mechanism.…”

Prospective Cohort Study with a 2-Year Follow-up of Clinical Results, Fusion Rate, and Muscle Bulk for Uniportal Full Endoscopic Posterolateral Transforaminal Lumbar Interbody Fusion

“…Kim et al [11][12][13] and Wu et al [14] published several reports on uniportal endoscopic posterolateral transforaminal lumbar interbody fusion (EPTLIF) applications on various degenerative conditions using large diameter stenosis endoscope. Psoas and paraspinal muscle cross-sectional area is correlated to lower back pain [15,16]. EPTLIF is a relatively new technique with only a short-term follow-up study available.…”

Comparative Cohort Study Of Paraspinal Muscle Volume Change Between Uniportal Full Endoscopic And Minimamally Invasive Open Posterolateral Transforaminal Lumbar Interbody Fusion

“…[19][20][21][22] Paraspinal muscle bulk has shown to have important correlation to prevention of disc degeneration and had been used as a surrogate marker for prognosis in back pain management. [23][24][25][26] There were limited literature on comparative study on paraspinal muscle bulk in patients who had undergone Endo-TLIF as compared to minimally invasive open TLIF. We hypothesized that Endo-TLIF being a minimally invasive procedure with soft tissue preservation can conserve paraspinal and psoas muscle bulk better than minimally invasive open TLIF.…”