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Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and…

Overview of attention for article published in Journal of Medical Case Reports, September 2016
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Title
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report
Published in
Journal of Medical Case Reports, September 2016
DOI 10.1186/s13256-016-1038-9
Pubmed ID
Authors

Jean-Marie Cuisset, S. Sukno, A. Trauffler, P. Latour, D. Dobbelaere, L. Michaud, L. Vallée

Abstract

Niemann-Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be effective in the treatment of progressive neurological manifestations in pediatric and adult patients with Niemann-Pick disease type C, and has been used in that indication in Europe since 2010. We describe the case of a 16-year-old white French boy with late-infantile-onset Niemann-Pick disease type C who had the unusual presentation of early-onset behavioral disturbance and learning difficulties (aged 5) alongside epileptic seizures. Over time he developed characteristic, progressive vertical ophthalmoplegia, ataxic gait, and cerebellar syndrome; at age 10 he was diagnosed as having Niemann-Pick disease type C based on filipin staining and genetic analysis (heterozygous I1061T/R934X NPC1 mutations). He was commenced on miglustat therapy aged 11 and over the course of approximately 3 years he showed a global improvement as well as improved cognitive and ambulatory function. During this period he remained seizure free on antiepileptic therapy, using valproate and lamotrigine. Miglustat improved the neurological status of our patient, including seizure control. Based on our findings in this patient and previous published data, we discuss the importance of effective seizure control in neurological improvement in Niemann-Pick disease type C, and the relevance of cerebellar involvement as a possible link between these clinical phenomena. Thus the therapeutic efficacy of miglustat could be hypothesized as a substrate reduction effect on Purkinje cells.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 49 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 49 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 7 14%
Student > Bachelor 7 14%
Student > Doctoral Student 5 10%
Other 5 10%
Researcher 5 10%
Other 10 20%
Unknown 10 20%
Readers by discipline Count As %
Medicine and Dentistry 15 31%
Biochemistry, Genetics and Molecular Biology 5 10%
Pharmacology, Toxicology and Pharmaceutical Science 4 8%
Nursing and Health Professions 3 6%
Neuroscience 3 6%
Other 8 16%
Unknown 11 22%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 May 2017.
All research outputs
#19,648,216
of 24,164,942 outputs
Outputs from Journal of Medical Case Reports
#2,354
of 4,239 outputs
Outputs of similar age
#262,827
of 340,254 outputs
Outputs of similar age from Journal of Medical Case Reports
#43
of 92 outputs
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