Familial Ossification of the Posterior Longitudinal Ligament found in 4 North American Families

抄録

Background: In Japan, familial studies utilize human leukocyte antigen (HLA) or other genetic markers, morphological/biochemical studies, and plain X-rays to identify simple recessive, simple dominant, and multifactorial modes of genetic inheritance for ossification of the posterior longitudinal ligament (OPLL) [2,3,5-8]. Methods and Results: Two members of four North American Caucasian families presented with OPLL; two sets of brothers, one sister/brother pair, and one father/daughter combination. Each member exhibited radiographic (MR/CT) and surgical confirmation of early and mature OPLL or mature OPLL alone. Patients averaged 50 years of age, and exhibited mild to severe myeloradiculopathy requiring multilevel diskectomies/corpectomies with fusion. Original operations were performed between 1990-1997, and patients were followed an average of 10.25 years (range 7-14 years). Conclusion: It is now recognized that OPLL contributes to myeloradiculopathy in the North American Caucasian population, with evidence for familial inheritance factors and predisposition to this pathologic entity. This is the first report suggesting the inheritance of OPLL with myeloradiculopathy in 4 Caucasian North American Families. The presence of OPLL in one individual family member may presage an increased susceptibility to this disorder in other immediate relatives.