1. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
- Author
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Ron A. Wevers, Bianca M L Stelten, Bart P.C. van de Warrenburg, Leo A. J. Kluijtmans, Hidde H. Huidekoper, Harm R. Haak, Aad Verrips, Carla E. M. Hollak, Eva H. Brilstra, Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Interne Geneeskunde, RS: CAPHRI - R1 - Ageing and Long-Term Care, and Pediatrics
- Subjects
Male ,Pediatrics ,Time Factors ,TENDON XANTHOMAS ,Cohort Studies ,Disability Evaluation ,0302 clinical medicine ,Modified Rankin Scale ,030212 general & internal medicine ,Young adult ,Child ,BILE-ACIDS ,Parkinsonism ,Age Factors ,Disease Management ,Xanthomatosis, Cerebrotendinous ,Middle Aged ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,Cholestanol ,Cholestanetriol 26-Monooxygenase/genetics ,Treatment Outcome ,Cholestanol/blood ,Child, Preschool ,Cholestanetriol 26-Monooxygenase ,Female ,CHENODEOXYCHOLIC ACID ,Cohort study ,Adult ,medicine.medical_specialty ,Mutation/genetics ,Adolescent ,Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0] ,Cerebrotendinous Xanthomatosis ,03 medical and health sciences ,Young Adult ,Cerebrotendinous/blood ,Xanthomatosis ,medicine ,Humans ,Preschool ,Newborn screening ,Expanded Disability Status Scale ,business.industry ,Infant, Newborn ,Infant ,Retrospective cohort study ,Newborn ,medicine.disease ,DIARRHEA ,Xanthomatosis, Cerebrotendinous/blood ,Mutation ,Nervous System Diseases/etiology ,Neurology (clinical) ,CTX ,Nervous System Diseases ,business ,FOLLOW-UP ,030217 neurology & neurosurgery - Abstract
ObjectiveTo 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.
- Published
- 2019
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