Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C
✍ Scribed by Elleder, M. ;Jir�sek, A. ;Vlk, J.
- Publisher
- Springer-Verlag
- Year
- 1983
- Tongue
- English
- Weight
- 713 KB
- Volume
- 401
- Category
- Article
- ISSN
- 0174-7398
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract We report on a patient with adult‐onset Niemann‐Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the __NPC1__ gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. Filipin staining, single photon emission computed tomography
## Abstract Niemann–Pick disease type C (NPC) is a progressive neurodegenerative disorder for which there is no effective treatment other than supportive therapy. Recently, the oral medication miglustat has been offered as a possible therapy aimed at reducing pathological substrate accumulation. Th
Niemann-Pick type C (NPC) disease develops as a result of mutations in the NPC1 gene that encodes a protein involved in the net movement of unesterified cholesterol from the late endosomal/lysosomal compartment to the metabolically active pool of sterol in the cytosol of virtually every cell in the