Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches
โ Scribed by Anton I. Rosenbaum; Frederick R. Maxfield
- Book ID
- 111184216
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 227 KB
- Volume
- 116
- Category
- Article
- ISSN
- 0022-3042
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## Abstract We report on a patient with adultโonset NiemannโPick 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 Spiral analysis is a computerized method of analyzing upper limb motor physiology through the quantification of spiral drawing. The objective of this study was to determine whether spirals drawn by patients with NiemannโPick disease type C (NPC) could be distinguished from those of cont