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Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease
Authors:I Lopes-Cendes  P Maciel  S Kish  C Gaspar  Y Robitaille  HB Clark  AH Koeppen  M Nance  L Schut  I Silveira  P Coutinho  J Sequeiros  GA Rouleau
Affiliation:Department of Medicine, Medical College of Georgia, Augusta, USA.
Abstract:Glucocorticoids (GC) are widely used for anti-inflammatory and immunosuppressive therapy. Thirty to 50% of GC-treated patients develop osteoporosis. Potential mechanisms of GC-induced osteoporosis (GC-OP) include abnormalities in calcium balance, vitamin D metabolism, parathyroid hormone release and activity, prostaglandin E2 and cytokine synthesis, interference with c-fos and p-53 expression in osteoblasts, and hypogonadism. Early diagnosis and detection of patients at risk are accomplished with rapid, safe and non-invasive bone density measurements. Preventive measures include maintaining a positive calcium balance, vitamin D supplementation (if indicated) and treatment of hypogonadism. The shortest duration and the smallest doses possible of GC for a particular condition are advisable. For high-risk patients and those with established GC-OP calcitonin or bisphosphonate therapy is recommended.
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