TY - JOUR
T1 - Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
AU - Stelten, Bianca M.L.
AU - Huidekoper, Hidde H.
AU - van de Warrenburg, Bart P.C.
AU - Brilstra, Eva H.
AU - Hollak, Carla E.M.
AU - Haak, Harm R.
AU - Kluijtmans, Leo A.J.
AU - Wevers, Ron A.
AU - Verrips, Aad
N1 - Funding Information:
B. Stelten and H. Huidekoper report no disclosures relevant to the manuscript. B. van de Warrenburg receives research support from Radboud University Medical Center, ZonMW, Hersenstichting, and Bioblast Pharma. E. Brilstra reports no disclosures relevant to the manuscript. C. Hollak is involved in premarketing research with Sanofi/Genzyme, Protalix and Idorsia. H. Haak, L. Kluijtmans, and R. Wevers report no disclosures relevant to the manuscript. A. Verrips receives honoraria from serving as a consultant for Leadiant Biosciences, Inc (United States) and Leadiant Biosciences Ltd (United Kingdom). Leadiant Biosciences produces CDCA but was not involved in this study in any way. Go to Neurology.org/N for full disclosures.
Publisher Copyright:
© 2018 American Academy of Neurology.
PY - 2019/1/8
Y1 - 2019/1/8
N2 - To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX).MethodsIn this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch patients with CTX. Age at diagnosis was correlated with clinical characteristics and with the course of modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS) scores at follow-up.ResultsMedian follow-up time was 8 years (6 months-31.5 years). Patients diagnosed and treated before the age of 24 years had a significantly better outcome at follow-up. When considering only patients with a good treatment adherence (n = 43), neurologic symptoms, if present, disappeared in all patients who were diagnosed before the age of 24 and treated since. Furthermore, treatment prevented the development of new neurologic symptoms during follow-up. In contrast, 61% of the patients diagnosed and treated after the age of 24 showed deterioration of the neurologic symptoms, with parkinsonism as a treatment-resistant feature. There was an improvement or stabilization in favor of patients diagnosed and treated before the age of 24 compared to those treated after the age of 24: 100% vs 58% for mRS scores and 100% vs 50% for EDSS scores, respectively.ConclusionsTreatment start at an early age can reverse and even prevent the development of neurologic symptoms in CTX. This study emphasizes the importance of early diagnosis in CTX and provides a rationale to include CTX in newborn screening programs.
AB - To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX).MethodsIn this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch patients with CTX. Age at diagnosis was correlated with clinical characteristics and with the course of modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS) scores at follow-up.ResultsMedian follow-up time was 8 years (6 months-31.5 years). Patients diagnosed and treated before the age of 24 years had a significantly better outcome at follow-up. When considering only patients with a good treatment adherence (n = 43), neurologic symptoms, if present, disappeared in all patients who were diagnosed before the age of 24 and treated since. Furthermore, treatment prevented the development of new neurologic symptoms during follow-up. In contrast, 61% of the patients diagnosed and treated after the age of 24 showed deterioration of the neurologic symptoms, with parkinsonism as a treatment-resistant feature. There was an improvement or stabilization in favor of patients diagnosed and treated before the age of 24 compared to those treated after the age of 24: 100% vs 58% for mRS scores and 100% vs 50% for EDSS scores, respectively.ConclusionsTreatment start at an early age can reverse and even prevent the development of neurologic symptoms in CTX. This study emphasizes the importance of early diagnosis in CTX and provides a rationale to include CTX in newborn screening programs.
UR - http://www.scopus.com/inward/record.url?scp=85059926700&partnerID=8YFLogxK
U2 - 10.1212/WNL.0000000000006731
DO - 10.1212/WNL.0000000000006731
M3 - Article
C2 - 30530799
AN - SCOPUS:85059926700
SN - 0028-3878
VL - 92
SP - e83-e95
JO - Neurology
JF - Neurology
IS - 2
ER -