Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C

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Authors	VOLNÝ Ondřej JAHNOVÁ Helena BAREŠ Martin
Year of publication	2016
Type	Article in Periodical
Magazine / Source	Basal Ganglia
MU Faculty or unit	Faculty of Medicine
Citation
Doi	http://dx.doi.org/10.1016/j.baga.2016.02.003
Field	Neurology, neurosurgery, neurosciences
Keywords	Adult onset; Disease modifying therapy; Miglustat; Niemann-Pick type C
Description	We present a case report of a patient with adult-onset Niemann-Pick disease type C (NPC), emphasizing an interdisciplinary approach to diagnosis and treatment. The patient is a compound heterozygote for two different mutations in the NPC1 gene, described for the first time in a Czech NPC cohort.