title: Acetyl-dl-leucine in Niemann-Pick type C: A case series.
abstract: OBJECTIVE
  To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease.
  
  
  METHODS
  Twelve patients with NP-C disease were treated with AL 3 g/d for 1 week and then with 5 g/d for 3 weeks with a subsequent washout period of 1 month. The Scale for the Assessment and Rating of Ataxia (SARA), the Spinocerebellar Ataxia Functional Index (SCAFI), the modified Disability Rating Scale (mDRS), EuroQol 5Q-5D-5L, and the visual analog scale (VAS) were administered. Measurements took place at baseline, after 1 month of therapy, and after 1 month of washout.
  
  
  RESULTS
  The SARA score changed from the baseline (median [±SD, interquartile range]) of 10.8 (11.2, 8-24.6) to 7.0 (10.7, 5.6-19.6) on medication (difference: 3.8 points) and 10.5 (11.5, 7.1-23.9) after washout (difference: 3.5 points) (p = 0.000412; post hoc p = 0.003 between baseline and on medication, and on medication and washout p = 0.005). The SCAFI subscore 9-Hole Peg Test for dominant hand, mDRS score, and VAS score also improved on medication. No side effects except transient dizziness in one patient were reported.
  
  
  CONCLUSIONS
  Treatment with AL improved ataxic symptoms in patients with NP-C without relevant side effects, thus showing a reasonable risk-benefit profile.
  
  
  METHODS
  This study provides Class IV evidence that AL improves cerebellar symptoms and quality of life in patients with NP-C.
authors.affiliation: From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia. Tatiana.Bremova@med.uni-muenchen.de.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Bremova
authors.affiliation: From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
authors.forename: Věra
authors.initials: V
authors.lastname: Malinová
authors.affiliation: From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
authors.forename: Yasmina
authors.initials: Y
authors.lastname: Amraoui
authors.affiliation: From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
authors.forename: Eugen
authors.initials: E
authors.lastname: Mengel
authors.affiliation: From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
authors.forename: Jörg
authors.initials: J
authors.lastname: Reinke
authors.affiliation: From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
authors.forename: Miriam
authors.initials: M
authors.lastname: Kolníková
authors.affiliation: From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.
authors.forename: Michael
authors.initials: M
authors.lastname: Strupp
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D007930:Leucine / Q000031:analogs & derivatives* / Q000627:therapeutic use; D008297:Male; D052556:Niemann-Pick Disease, Type C / Q000175:diagnosis* / Q000188:drug therapy* / Q000523:psychology; D011788:Quality of Life / Q000523:psychology; D055815:Young Adult
chemical_list: D007930:Leucine; C088117:acetylleucine