Research
Research has been ongoing to better understand the disease and treatments for it. Pathology
The loss of myelin in the central nervous system is considered to be a main pathogenic factor. Research uses animal models carrying the underlying mutation for Niemann–Pick disease, e.g. a mutation in the NPC1 gene as seen in Niemann-Pick type C disease. In this model, the expression of myelin gene regulatory factor (MRF) has been shown to be significantly decreased. MRF is a transcription factor of critical importance in the development and maintenance of myelin sheaths. A perturbation of oligodendrocyte maturation and the myelination process might, therefore, be an underlying mechanism of the neurological deficits.Curiously, in 2011 fibroblast cells derived from patients with Niemann-Pick type C1 disease were shown to be resistant to Ebola virus because of mutations in the NPC1 protein, which is needed for viral escape from the vesicular compartment.Other studies have uncovered small molecules which inhibit the receptor and may be a potential therapeutic strategy. Treatments under investigation
Experimental use of arimoclomol
In 2014 the European Medicines Agency (EMA) granted orphan drug designation to arimoclomol for the treatment of Niemann-Pick type C. This was followed in 2015 by the U.S. Food & Drug Administration (FDA). Dosing in a placebo-controlled phase II/III clinical trial to investigate treatment for Niemann-Pick type C (for patients with both type C1 and C2) using arimoclomol began in 2016. Experimental use of 2-hydroxypropyl-β-cyclodextrin
Researchers at the University of Arizona first proposed the use of 2-hydroxypropyl-β-cyclodextrins for the treatment of Niemann-Pick Type C1 in 2001.
Symptoms are burning sensation in soles, sometime ankles and legs in many patients. Tingling sensation and pin prick sensations are also common. Sweating of legs and soles is seen. In some case hypertrophy of one of the legs is seen mainly in tropical region where external temperature is also higher. Eponym
Termed Grierson-Gopalan syndrome after Coluther Gopalan and J. Grierson. See also
Erythromelalgia
Small fiber peripheral neuropathy
Tarsal tunnel syndrome
Chemotherapy-induced acral erythema

References


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