Treatment

New Diagnostic Tool and Treatment Recommendations for NPC

New Diagnostic Tool and Treatment Recommendations for NPC

As part of the international NPC Guidelines working group, A/Prof Mark Walterfang has been involved in two new publications summarising the state-of-the-art in diagnosis and management of Niemann-Pick type C (NPC) disease. The first describes a “suspicion index” to assist clinicians in detecting patients who may have NPC, and allows for the ranking of symptoms to produce an overall illness score and then suggests pathways to diagnosis. The second is a thorough review and update regarding current diagnostic and management issues for clinicians treating patients with NPC, including multidisciplinary management, experimental treatments, and illness monitoring.

These two papers can be found
here and here.

Wijburg et al.
Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology 78: 1560-1567, 2012.

Patterson et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update.
Mol Genet Metab 106: 330-344, 2012.