Abstract | OBJECTIVE: 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. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that AL improves cerebellar symptoms and quality of life in patients with NP-C.
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Authors | Tatiana Bremova, Věra Malinová, Yasmina Amraoui, Eugen Mengel, Jörg Reinke, Miriam Kolníková, Michael Strupp |
Journal | Neurology
(Neurology)
Vol. 85
Issue 16
Pg. 1368-75
(Oct 20 2015)
ISSN: 1526-632X [Electronic] United States |
PMID | 26400580
(Publication Type: Journal Article, Observational Study, Research Support, Non-U.S. Gov't)
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Copyright | © 2015 American Academy of Neurology. |
Chemical References |
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Topics |
- Adolescent
- Adult
- Female
- Humans
- Leucine
(analogs & derivatives, therapeutic use)
- Male
- Niemann-Pick Disease, Type C
(diagnosis, drug therapy, psychology)
- Quality of Life
(psychology)
- Young Adult
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