ossification of the posterior longitudinal ligament of the spine

ossification of the posterior longitudinal ligament of the spine

A common (up to 4% in Asians) autosomal recessive myelopathy (OMIM:602475), which can cause spinal-cord compression leading to tetraparesis.
 
Imaging
Dagger sign is typically seen in T4-T7.

Molecular pathology
OPLL is cause by:
(1) A defect of COL6A1, which encodes collagen VI, a cell binding collagen; and
(2) Loss of function mutations in ENPP1, which encodes a transmembrane glycoprotein that regulates soft tissue calcium and bone and joint cartilage mineralisation by generating pyrophosphate (PPi), a physiological inhibitor of hydroxyapatite crystal formation and a suppressor of chondrogenesis.
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References in periodicals archive ?
Ossification of the posterior longitudinal ligament of the spine (OPLL; MIM 602475) is an intractable spinal disease.
1998) Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine.
1999) Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL).
2003) Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.
and Japan Collaborative Epidemiological Study Group for Evaluation of Ossification of the Posterior Longitudinal Ligament of the Spine Risk (2004) High body mass index after age 20 and diabetes mellitus are independent risk factors for ossification of the posterior longitudinal ligament of the spine in Japanese subjects: a case-control study in multiple hospitals.
1989) Genetic studies on ossification of the posterior longitudinal ligament of the spine.
1998) Genetic mapping of ossification of the posterior longitudinal ligament of the spine.
2002) Large-scale screening for candidate genes of ossification of the posterior longitudinal ligament of the spine.
2013) A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine.
2002) Association of bone metabolism regulatory factor gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity.
and Japan Collaborative Epidemiological Study Group for Evaluation of Ossification of the Posterior Longitudinal Ligament of the Spine Risk (2008) FokI variant of vitamin D receptor gene and factors related to atherosclerosis associated with ossification of the posterior longitudinal ligament of the spine: a multi-hospital case-control study.
2008) Association of bone morphogenetic protein-2 gene polymorphisms with susceptibility to ossification of the posterior longitudinal ligament of the spine and its severity in Chinese patients.