Session Information
Date: Thursday, June 8, 2017
Session Title: Dystonia
Session Time: 1:15pm-2:45pm
Location: Exhibit Hall C
Objective: The first two Korean patients in siblings of adolescent/adult onset NP-C were evaluated for the efficacy of miglustat.
Background:
Niemann-Pick disease type C (NP-C) is a rare autosomal recessively inherited lysosomal storage disorder characterized by progressive neurological symptoms. Miglustat has been known to improve or stabilize the neurological symptoms in NP-C.
Methods:
The first patient (case 1) developed delusion and abnormal posturing on both hands at the age of 18. All symptoms were gradually aggravated. At the age of 24, he became completely dependent on caregivers and wheelchair bound. The second patient (case 2) was the younger sister of case 1. Her symptoms began with dystonia in the right hand at 19 years old and were milder than her brother. NPC1 gene sequencing revealed a compound heterozygote mutation which was already known as a genetic cause of NP-C, one in exon 9 (c.1552C>T [R518W]) and one in exon 18 (c.2780C>T [A927V]). Both patients were evaluated for dystonia and ataxia using the Dystonia Movement Scale (DMS, maximum score 120) and Scale for the assessment and rating of ataxia (SARA, maximum score 37) before and 18 months after the administration of miglustat. 600mg of miglustat a day was given to both patients.
Results: The baseline scores of DMS were 74 and 29 for case 1 and 2, respectively. They changed to 96 and 27 after the administration of miglustat for 18 months. The baseline scores of SARA were 26.5 and 13. They changed to 39 and 14. After miglustat therapy, the case 1 worsened for both dystonia and ataxia. However, the case 2 demonstrated a stabilization of her symptoms.
Conclusions:
Our results suggest that miglustat treatment can halt the disease progression at least for a period of time in the early stage of the illness. The earlier detection of the condition seemed to be important for the better efficacy of miglustat in NP-C.
To cite this abstract in AMA style:
J.W. Kim, S.-Y. Lee, R. Kim. Efficacy of miglustat in Korean patients with Niemann-Pick disease type C [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/efficacy-of-miglustat-in-korean-patients-with-niemann-pick-disease-type-c/. Accessed May 16, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/efficacy-of-miglustat-in-korean-patients-with-niemann-pick-disease-type-c/