Menu

rss
J Neurol Neurosurg Psychiatry 76:592-595 doi:10.1136/jnnp.2004.046045
  • Short report

Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 1
Figure 1

 Pathological and neuroimaging manifestations in patients with NPC. (A) Light micrograph of a bone marrow aspirate showing the presence of a foamy histiocyte. (B) Presence of perinuclear non-esterified cholesterol deposits in cultured fibroblasts visualised by fluorescence microscopy after filipin staining. (C) Axial T2-weighted magnetic resonance image showing non-specific hyperintense areas in the white matter.

This Article

  1. Abstract
  2. Full text
  3. PDF

Free sample
This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JNNP.
View free sample issue >>

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Related article: Clinical features of dopamine agonist withdrawal syndrome in a movement disorders clinic >>