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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.
Classification of evidence: This study provides Class IV evidence that AL improves cerebellar symptoms and quality of life in patients with NP-C.
GLOSSARY
- AL=
- acetyl-dl-leucine;
- IQR=
- interquartile range;
- mDRS=
- modified Disability Rating Scale;
- MoCA=
- Montreal Cognitive Assessment;
- 9HPT=
- 9-Hole Peg Test;
- NP-C=
- Niemann-Pick type C;
- PSPV=
- peak slow-phase velocity;
- SARA=
- Scale for the Assessment and Rating of Ataxia;
- SCAFI=
- Spinocerebellar Ataxia Functional Index;
- VAS=
- visual analog scale
Footnotes
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Supplemental data at Neurology.org
- Received March 11, 2015.
- Accepted in final form June 24, 2015.
- © 2015 American Academy of Neurology
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