Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C
| Authors | |
|---|---|
| Year of publication | 2016 |
| Type | Article in Periodical |
| Magazine / Source | Basal Ganglia |
| MU Faculty or unit | |
| 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. |