Adult Niemann-Pick disease—a case report
✍ Scribed by W. C. Chan; K. S. Lai; D. Todd
- Publisher
- John Wiley and Sons
- Year
- 1977
- Tongue
- English
- Weight
- 500 KB
- Volume
- 121
- Category
- Article
- ISSN
- 0022-3417
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✦ Synopsis
A case is presented of the rare adult form of Niemann-Pick disease occurring in a Cantonese. The diagnosis was verified by biochemical analysis of the affected tissues.
📜 SIMILAR VOLUMES
Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, wh
## 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