Original ArticlesNeurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid: Early Versus Late DiagnosisYahalom, Gilad MD*†; Tsabari, Rakefet MD†‡; Molshatzki, Noa MSc‡; Ephraty, Lilach MD*†; Cohen, Hofit MD§∥; Hassin-Baer, Sharon MD*†∥Author Information *The Parkinson Disease and Movement Disorders Clinic, †Department of Neurology and Sagol Neuroscience Center, ‡Stroke Center, and §The Bert W. Strassburger Lipid Center, Chaim Sheba Medical Center, Tel-Hashomer, Israel; and ∥Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Conflicts of Interest and Source of Funding: The authors have no conflicts of interest to declare. Address correspondence and reprint requests to Sharon Hassin-Baer, MD, The Parkinson Disease and Movement Disorders Clinic, Department of Neurology and Sagol Neuroscience Center, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel; E-mail: email@example.com Clinical Neuropharmacology: May/June 2013 - Volume 36 - Issue 3 - p 78-83 doi: 10.1097/WNF.0b013e318288076a Buy Metrics Abstract Objective To present the long-term neurological outcome of Jewish Israeli patients with cerebrotendinous xanthomatosis (CTX) after several years of chenodeoxycholic acid (CDCA) treatment. Methods A cross sectional observational study of all patients with a diagnosis of CTX followed in a referral outpatient clinic during the years 2003–2012. Results Eighteen patients (10 men) from 11 families were enrolled. Sixteen patients were included in the analysis (2 patients had low compliance for treatment). The mean ± SD age at last evaluation was 35.0 ± 9.2 years (range, 16–45 years). After their diagnosis, at age 22.6 ± 10.8 years, all patients were treated with CDCA. Patients who started treatment after the age of 25 years had worse outcome and were significantly more limited in ambulation (P = 0.004) and more cognitively impaired (P = 0.047). Five patients who started treatment after 25 years of age continued to deteriorate despite CDCA treatment. Conclusions Beginning CDCA treatment as early as possible is crucial to preventing neurological damage and deterioration in CTX. After significant neurological pathology is established, the effect of treatment is limited and deterioration may continue. © 2013 by Lippincott Williams & Wilkins.