Niemann-Pick disease Type C (NP-C) is a rare, genetically determined neurological disorder caused by a pathological accumulation of lipids (fat molecules such as cholesterol and gangliosides). This accumulation is the consequence of disturbed function of the NPC12and/or NPC2 proteins, which control lipid transport in cells, in particular those of the central nervous system. As a result, lipids accumulate in toxic quantities, causing structural and functional damage within these cells.
NP-C is an inherited severe and progressive disease, the main characteristic of which is the deterioration of neurological function, with associated symptoms, over the course of the disease. It presents primarily in infants and children, but can also develop during adulthood.
NP-C symptoms are very heterogeneous and they can be visceral, neurological and/or psychiatric. NP-C symptoms can be very different between affected individuals and depending on the age of onset. They comprises difficulties in controlling eye movements, difficulties in swallowing, speech disorders, striking features of posture and gait, sleep disorders, seizures, behavioural disorders, and progressive intellectual retardation, which frequently leads to severe dementia. In some patients, an enlargement of the spleen and/or the liver is observed, particularly during early childhood.
Our educational films provides information about the symptoms of the disease and the diagnostic procedures. Patients, relatives and carers discuss their everyday life and describe their experiences dealing with the disease.
Patterson, M. C., Hendriksz, C. J., Walterfang, M., Sedel, F., Vanier, M. T., & Wijburg, F. (2012). Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Molecular genetics and metabolism,106(3), 330-344.