Thoracic ligamentum flavum ossification: a rare cause of spinal cord injury without tomographic evidence of trauma in a Caucasian patient. Case report and literature review

Ricciardi, Guillermo Alejandro; Garfinkel, Ignacio Gabriel; Carrioli, Gabriel Genaro; Ricciardi, Daniel Oscar

doi:10.1038/s41394-021-00422-5

Cited by 3 publications

(1 citation statement)

References 41 publications

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“…The prevalence of OPLL is reported to be significantly higher in East Asian populations (0.4–3.0%) than in other ethnicities (0.01–2.0%) [ 1 – 3 ]. OYL was most prevalent in East Asian populations (16.9–63.9%) [ 4 – 6 ], with the prevalence in Europe and USA limited to case reports [ 7 – 14 ]. Many studies have attempted to identify underlying risk factors of OPLL, and multiple genetic and environmental factors have been suggested as disease-causing or disease-modifying agents, but there is little understanding of factors responsible for the heterotopic ossifications in OPLL and DISH, and few effective therapies preventing the progression of the diseases.…”

Section: Introductionmentioning

confidence: 99%

Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments

Kato,

Braddock,

Ito

2023

Curr Osteoporos Rep

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Purpose of Review The study aims to provide updated information on the genetic factors associated with the diagnoses ‘Diffuse Idiopathic Skeletal Hyperostosis’ (DISH), ‘Ossification of the Posterior Longitudinal Ligament’ (OPLL), and in patients with spinal ligament ossification. Recent Findings Recent studies have advanced our knowledge of genetic factors associated with DISH, OPLL, and other spinal ossification (ossification of the anterior longitudinal ligament [OALL] and the yellow ligament [OYL]). Several case studies of individuals afflicted with monogenic disorders, such as X-linked hypophosphatemia (XLH), demonstrate the strong association of fibroblast growth factor 23-related hypophosphatemia with OPLL, suggesting that pathogenic variants in PHEX, ENPP1, and DMP1 are associated with FGF23-phosphate wasting phenotype and strong genetic factors placing patients at risk for OPLL. Moreover, emerging evidence demonstrates that heterozygous and compound heterozygous ENPP1 pathogenic variants inducing ‘Autosomal Recessive Hypophosphatemic Rickets Type 2’ (ARHR2) also place patients at risk for DISH and OPLL, possibly due to the loss of inhibitory plasma pyrophosphate (PPi) which suppresses ectopic calcification and enthesis mineralization. Summary Our findings emphasize the importance of genetic and plasma biomarker screening in the clinical evaluation of DISH and OPLL patients, with plasma PPi constituting an important new biomarker for the identification of DISH and OPLL patients whose disease course may be responsive to ENPP1 enzyme therapy, now in clinical trials for rare calcification disorders.

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