Monitoring progression of Niemann-Pick type C disease
Thorough physical examinations and assessments should be carried out every 6 to 12 months to monitor neurological function and quality of life in patients with Niemann-Pick type C disease (NP-C).1
Disability rating scales
A number of disability rating scales are available that assess impairments in key parameters of neurological disease progression, response to disease-specific therapy and quantification of overall functional disability.1 An example of a widely-used, specific NP-C disability rating scale is shown in Figure 1. The original scale developed in 2006 featured four assessment domains: ambulation, manipulation, language and swallowing and was further extended in 2010 to also include seizures and ocular movements. This scale can be used to evaluate the severity of disease, as well as monitor NP-C progression, and the effect of treatment, both symptomatic and disease-specific.2,3
Figure 1: Modified disability rating scale (Pineda et al, 2010), extended from original developed by Iturriaga et al in 2006.2,3
Specific neurological examinations include ocular motor assessment, swallowing function, changes in ambulation, cognitive function, psychiatric evaluation and seizure monitoring.1
Please visit educational resources to view a series of films showing how neurological symptoms present in patients with NP-C.
There is early evidence that plasma oxysterols may provide some indication of disease progression but more data is needed, particularly regarding correlation with filipin staining and changes in oxysterol levels during disease-specific therapy.1
Brain imaging can be useful in confirming the presence or progress of neurological disease and response to therapy.1
Video recordings of the clinical examinations can assist in the evaluation of neurological progress during the years of follow-up. A simplified standard video protocol for clinical assessment is shown in Figure 2.1
Figure 2: Simplified standard video protocol for clinical assessment (Patterson et al, 2012)1
- Patterson M, Hendriksz C, Walterfang M, et al, on behalf of the NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab 2012. 106(3):330-344.
- Pineda M, Perez-Poyato M, O’Callaghan M, et al. Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series. Mol Genet Metab 2010;99(4):358-66.
- Itturiaga C, Pineda M, Fernández-Valero EM, et al. Niemann-Pick C disease in Spain: Clinical spectrum and development of a disability scale. J Neurol Sci 2006;249:106.