Table 1.

Main clinical manifestations observed in different types of NPC (partly on the basis of Vanier 2010)

Type NPC	Early infantile	Late infantile	Juvenile	Adult
Systemic involvement	Hepatosplenomegaly May regress with age Absent in ~15% of cases
Neurological involvement	- Delay in motor milestones - Hypotonia - VSGP	- Gait problems - Clumsiness - Speech delay - Cataplexy - VSGP	- School problems - Ataxia - Seizures - Cataplexy - VSGP	- Psychiatric problems - Ataxia - Dystonia - Dementia - VSGP