In the connective tissue disorders cohort (approximately 800 subject enrolled in protocol 2003-086), complications such as degenerative disc disease in the spine, bone density loss, osteoarthritis, chronic pain and musculoskeletal impairment appear at a much younger age than found in the general population. The diagnostic studies to identify these abnormalities include bone densitometry (DEXA), MRI of the spine, questionnaires on pain and quality of life, and assessment of musculoskeletal disability during the study visits. We have also found an increased incidence of acquired connective tissue disorders such as rheumatoid arthritis and systemic lupus in this population. These findings are thought to be related to abnormal organization of extracellular matrix structural proteins and increased immunogenicity of the abnormally formed matrix. Determination of the secondary intracellular derangements that occur due to abnormal extracellular signals may lead to treatment strategies in these disorders, as well as benefit the aging population that suffer from similar conditions.
|Milhorat, Thomas H; Bolognese, Paolo A; Nishikawa, Misao et al. (2009) Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale. Surg Neurol 72:20-35|